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<!--
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UID=57875
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ConceptID=C0162154
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Atrophic scars</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57875</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0162154</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Atrophic scarring; Thin, atrophic scars</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Atrophic scar (409766009); Atrophic scar (239172000)</td></tr>
|
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<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
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<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001075">HP:0001075</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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||
<div class="portlet_content ln">Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="TLline">Atrophic scars</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/871273" ref="tree=MeSH" title="MedGen record for Abnormality of the integument">Abnormality of the integument</a></span><ul><li><span class="TLline"><a href="/medgen/1845238" ref="tree=MeSH" title="MedGen record for Abnormality of the skin">Abnormality of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/869110" ref="tree=MeSH" title="MedGen record for Abnormal skin morphology">Abnormal skin morphology</a></span><ul><li><span class="TLline"><a href="/medgen/208858" ref="tree=MeSH" title="MedGen record for Localized skin lesion">Localized skin lesion</a></span><ul><li><span class="TLline"><a href="/medgen/870295" ref="tree=MeSH" title="MedGen record for Aplasia/Hypoplasia of the skin">Aplasia/Hypoplasia of the skin</a></span><ul><li><span class="TLline"><a href="/medgen/101793" ref="tree=MeSH" title="MedGen record for Dermal atrophy">Dermal atrophy</a></span><ul><li><span class="matched_ds">Atrophic scars</span><ul><li><span class="TLline"><a href="/medgen/342099" ref="tree=MeSH" title="MedGen record for Cigarette-paper scars">Cigarette-paper scars</a></span></li><li><span class="TLline"><a href="/medgen/1378808" ref="tree=MeSH" title="MedGen record for Widened atrophic scar">Widened atrophic scar</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
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</div>
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||
<div class="portlet mgSection" id="ID_112">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat">
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||
<div class="divPopper rprt" id="rdis_38194"><div><strong>Epidermolysis bullosa simplex 1A, generalized severe</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>38194</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0079295</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/38194">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_36311"><div><strong>Recessive dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36311</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0079474</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36311">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_36328"><div><strong>Junctional epidermolysis bullosa gravis of Herlitz</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>36328</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0079683</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Junctional epidermolysis bullosa (JEB) is characterized by fragility of the skin and mucous membranes, manifest by blistering with little or no trauma. Blistering may be severe and granulation tissue can form on the skin around the oral and nasal cavities, fingers and toes, and internally around the upper airway. Blisters generally heal with no significant scarring. Broad classification of JEB includes JEB generalized severe and JEB generalized intermediate. In JEB generalized severe, blisters are present at birth or become apparent in the neonatal period. Congenital malformations of the urinary tract and bladder may also occur. In JEB generalized intermediate, the phenotype may be mild with blistering localized to hands, feet, knees, and elbows with or without renal or ureteral involvement. Some individuals never blister after the newborn period. Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/36328">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_120628"><div><strong>Ehlers-Danlos syndrome, classic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120628</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0268336</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Classic Ehlers-Danlos syndrome (cEDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and generalized joint hypermobility (GJH). The skin is soft, velvety, or doughy to the touch. In addition, the skin is hyperextensible, meaning that it extends easily and snaps back after release. The skin is fragile, as manifested by splitting of the dermis following relatively minor trauma, especially over pressure points (knees, elbows) and areas prone to trauma (shins, forehead, chin). Wound healing is poor, and stretching, thinning, and pigmentation of scars is characteristic, leading to the presence of atrophic and/or hemosiderotic scars. Easy bruising is also a hallmark of cEDS. GJH is present in most but not all affected individuals, evidenced by the presence of a Beighton score of five or greater, either on examination or historically. Joint instability complications may comprise sprains and dislocations/subluxations. Mild muscle hypotonia with delayed motor development, fatigue and muscle cramps, and some skeletal morphologic alterations (scoliosis, pectus deformities, genus/hallux valgus, pes planus) are regularly observed. While aortic root dilatation and mitral valve prolapse are seen in cEDS, they are rarely clinically significant. Arterial aneurysm and rupture have been reported in a few individuals with cEDS.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_76449"><div><strong>Sneddon syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>76449</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0282492</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Sneddon syndrome is a noninflammatory arteriopathy characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood (summary by Bras et al., 2014). Livedo reticularis occurs also with polyarteritis nodosa, systemic lupus erythematosus, and central thrombocythemia, any one of which may be accompanied by cerebrovascular accidents (Bruyn et al., 1987).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/76449">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_98154"><div><strong>Pretibial dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98154</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432321</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/98154">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_140935"><div><strong>Generalized dominant dystrophic epidermolysis bullosa</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140935</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0432322</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/140935">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_336244"><div><strong>Ehlers-Danlos syndrome due to tenascin-X deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>336244</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1848029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The clinical features of TNXB-related classical-like Ehlers-Danlos syndrome (clEDS) strongly resemble those seen in classic EDS (cEDS). Affected individuals have generalized joint hypermobility, hyperextensible skin, and easy bruising, but do not have atrophic scarring, as is seen in cEDS. There are also several other distinguishing clinical findings including anomalies of feet and hands, edema in the legs in the absence of cardiac failure, mild proximal and distal muscle weakness, and axonal polyneuropathy. Vaginal, uterine, and/or rectal prolapse can also occur. Tissue fragility with resulting rupture of the trachea, esophagus, and small and large bowel has been reported. Vascular fragility causing a major event occurs in a minority of individuals. Significant variability in the severity of musculoskeletal symptoms and their effect on day-to-day function between unrelated affected individuals as well as among affected individuals in the same family has been reported. Fatigue has been reported in more than half of affected individuals. The severity of symptoms in middle-aged individuals can range from joint hypermobility without complications to being wheelchair-bound as a result of severe and painful foot deformities and fatigue.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/336244">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_343607"><div><strong>Transient bullous dermolysis of the newborn</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>343607</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851573</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dystrophic epidermolysis bullosa (DEB) is a genetic skin disorder affecting skin and nails that usually presents at birth. DEB is divided into two major types depending on inheritance pattern: recessive dystrophic epidermolysis bullosa (RDEB) and dominant dystrophic epidermolysis bullosa (DDEB). Each type is further divided into multiple clinical subtypes. Absence of a known family history of DEB does not preclude the diagnosis. Clinical findings in severe generalized RDEB include skin fragility manifest by blistering with minimal trauma that heals with milia and scarring. Blistering and erosions affecting the whole body may be present in the neonatal period. Oral involvement may lead to mouth blistering, fusion of the tongue to the floor of the mouth, and progressive diminution of the size of the oral cavity. Esophageal erosions can lead to webs and strictures that can cause severe dysphagia. Consequently, malnutrition and vitamin and mineral deficiency may lead to growth restriction in young children. Corneal erosions can lead to scarring and loss of vision. Blistering of the hands and feet followed by scarring fuses the digits into "mitten" hands and feet, with contractures and pseudosyndactyly. The lifetime risk of aggressive squamous cell carcinoma is higher than 90%. In contrast, the blistering in the less severe forms of RDEB may be localized to hands, feet, knees, and elbows with or without involvement of flexural areas and the trunk, and without the mutilating scarring seen in severe generalized RDEB. In DDEB, blistering is often mild and limited to hands, feet, knees, and elbows, but nonetheless heals with scarring. Dystrophic nails, especially toenails, are common and may be the only manifestation of DDEB.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/343607">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_342092"><div><strong>Ehlers-Danlos syndrome type 7B</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342092</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1851801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nBleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/342092">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_356497"><div><strong>Ehlers-Danlos syndrome, musculocontractural type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>356497</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1866294</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bleeding problems are common in the vascular type of Ehlers-Danlos syndrome and are caused by unpredictable tearing (rupture) of blood vessels and organs. These complications can lead to easy bruising, internal bleeding, a hole in the wall of the intestine (intestinal perforation), or stroke. During pregnancy, women with vascular Ehlers-Danlos syndrome may experience rupture of the uterus. Additional forms of Ehlers-Danlos syndrome that involve rupture of the blood vessels include the kyphoscoliotic, classical, and classical-like types.\n\nOther types of Ehlers-Danlos syndrome have additional signs and symptoms. The cardiac-valvular type causes severe problems with the valves that control the movement of blood through the heart. People with the kyphoscoliotic type experience severe curvature of the spine that worsens over time and can interfere with breathing by restricting lung expansion. A type of Ehlers-Danlos syndrome called brittle cornea syndrome is characterized by thinness of the clear covering of the eye (the cornea) and other eye abnormalities. The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and myopathic forms of Ehlers-Danlos syndrome. The periodontal type causes abnormalities of the teeth and gums.\n\nMany people with the Ehlers-Danlos syndromes have soft, velvety skin that is highly stretchy (elastic) and fragile. Affected individuals tend to bruise easily, and some types of the condition also cause abnormal scarring. People with the classical form of Ehlers-Danlos syndrome experience wounds that split open with little bleeding and leave scars that widen over time to create characteristic "cigarette paper" scars. The dermatosparaxis type of the disorder is characterized by loose skin that sags and wrinkles, and extra (redundant) folds of skin may be present.\n\nAn unusually large range of joint movement (hypermobility) occurs in most forms of Ehlers-Danlos syndrome, and it is a hallmark feature of the hypermobile type. Infants and children with hypermobility often have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking. The loose joints are unstable and prone to dislocation and chronic pain. In the arthrochalasia type of Ehlers-Danlos syndrome, infants have hypermobility and dislocations of both hips at birth.\n\nThe various forms of Ehlers-Danlos syndrome have been classified in several different ways. Originally, 11 forms of Ehlers-Danlos syndrome were named using Roman numerals to indicate the types (type I, type II, and so on). In 1997, researchers proposed a simpler classification (the Villefranche nomenclature) that reduced the number of types to six and gave them descriptive names based on their major features. In 2017, the classification was updated to include rare forms of Ehlers-Danlos syndrome that were identified more recently. The 2017 classification describes 13 types of Ehlers-Danlos syndrome.\n\nEhlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/356497">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_397792"><div><strong>Ehlers-Danlos syndrome, dermatosparaxis type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>397792</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2700425</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Dermatosparaxis (meaning 'tearing of skin') is an autosomal recessive disorder of connective tissue resulting from deficiency of procollagen peptidase, an enzyme that aids in the processing of type I procollagen. The disorder and the responsible biochemical defect was first observed in cattle (Lapiere et al., 1971). Lapiere and Nusgens (1993) reviewed the discovery of dermatosparaxis in cattle, the elucidation of the disorder, its occurrence in other animals, and the delayed recognition of the disorder in the human.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/397792">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_462437"><div><strong>Aneurysm-osteoarthritis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>462437</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3151087</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, and cervical spine malformation and/or instability), craniofacial features (hypertelorism, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/462437">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482790"><div><strong>Ehlers-Danlos syndrome, kyphoscoliotic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482790</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3281160</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness (typically improving during childhood), progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment. Most affected children achieve independent walking between ages two and four years. A decline of motor function in adulthood may be seen, but affected individuals are likely to be able to participate in activities of daily living in adulthood and maintain independent walking. Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma, insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy. Rarer findings may include bifid uvula with submucous or frank cleft palate, speech/language delay without true cognitive impairment, and rectal prolapse.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482790">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815540"><div><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815540</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809210</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815540">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_815800"><div><strong>Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815800</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Epidermolysis bullosa simplex (EBS) is characterized by fragility of the skin (and mucosal epithelia in some instances) that results in non-scarring blisters and erosions caused by minor mechanical trauma. EBS is distinguished from other types of epidermolysis bullosa (EB) or non-EB skin fragility syndromes by the location of the blistering in relation to the dermal-epidermal junction. In EBS, blistering occurs within basal keratinocytes. The severity of blistering ranges from limited to hands and feet to widespread involvement. Additional features can include hyperkeratosis of the palms and soles (keratoderma), nail dystrophy, milia, and hyper- and/or hypopigmentation. Rare EBS subtypes have been associated with additional clinical features including pyloric atresia, muscular dystrophy, cardiomyopathy, and/or nephropathy.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/815800">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_816175"><div><strong>Ehlers-Danlos syndrome, musculocontractural type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816175</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3809845</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The musculocontractural type of Ehlers-Danlos syndrome (EDSMC2) is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay (summary by Muller et al., 2013). For a discussion of genetic heterogeneity of the musculocontractural type of Ehlers-Danlos syndrome, see EDSMC1 (601776).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/816175">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_907426"><div><strong>Bethlem myopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>907426</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4225313</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Bethlem myopathy-2 (BTHLM2) is characterized by congenital hypotonia and myopathy. Motor development is delayed, but muscle strength improves with age, and patients are able to achieve ambulation. Proximal joint contractures that improve over time, as well as joint hyperlaxity, are also present. Muscle biopsy shows mild variability in fiber diameter, without degeneration or regeneration (Zou et al., 2014; Hicks et al., 2014). For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1 (158810).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/907426">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_929458"><div><strong>Ehlers-Danlos syndrome, cardiac valvular type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>929458</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4303789</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The hallmark of the cardiac valvular type of Ehlers-Danlos syndrome (EDSCV) is the severe cardiac-valvular disease, necessitating valve replacement surgery at adult age, in conjunction with variable skin hyperextensibility, atrophic scarring, and joint hypermobility (summary by Brady et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/929458">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1642148"><div><strong>Ehlers-Danlos syndrome, periodontal type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1642148</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1642148">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1645042"><div><strong>Ehlers-Danlos syndrome, arthrochalasia type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1645042</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4551623</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1645042">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646889"><div><strong>Ehlers-Danlos syndrome, spondylodysplastic type, 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646889</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4552003</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome spondylodysplastic type 1 (EDSSPD1) is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature (Guo et al., 2013). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Spondylodysplastic Type See EDSSPD2 (615349), caused by mutation in the B3GALT6 gene (615291), and EDSSPD3 (612350), caused by mutation in the SLC39A13 gene (608735).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646889">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1632001"><div><strong>Ehlers-Danlos syndrome, classic-like, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1632001</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4693870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-2 (EDSCLL2) is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classification of EDS, see 130000.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1632001">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648422"><div><strong>Severe combined immunodeficiency due to CARMIL2 deficiency</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648422</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4748304</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1648422">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1675672"><div><strong>Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1675672</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5193040</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1675672">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1778238"><div><strong>Fibromuscular dysplasia, multifocal</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778238</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5543412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1778238">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1810975"><div><strong>Junctional epidermolysis bullosa with pyloric atresia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1810975</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5676875</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; renal and/or ureteral anomalies; and protein-losing enteropathy. The course of EB-PA is usually severe and most often lethal in the neonatal period. Those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, diaper area, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, and corneal abnormalities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1810975">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861383"><div><strong>Ehlers-Danlos syndrome, classic-like, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861383</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C5935631</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ehlers-Danlos syndrome classic-like-3 (EDSCLL3) is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture (Hadar et al., 2024). For a discussion of genetic heterogeneity of classic-like Ehlers-Danlos syndrome, see 606408. For a discussion of the classificiation of Ehlers-Danlos syndrome, see EDSCL1 (130000).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861383">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_462437" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Aneurysm-osteoarthritis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_907426" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bethlem myopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_336244" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome due to tenascin-X deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342092" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome type 7B</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1645042" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, arthrochalasia type</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (28)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_929458" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, cardiac valvular type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_120628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1632001" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861383" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, classic-like, 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_397792" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, dermatosparaxis type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482790" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, kyphoscoliotic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_356497" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, musculocontractural type 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1642148" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, periodontal type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylodysplastic type, 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815540" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ehlers-Danlos syndrome, spondylodysplastic type, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_38194" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 1A, generalized severe</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815800" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778238" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fibromuscular dysplasia, multifocal</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140935" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized dominant dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36328" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Junctional epidermolysis bullosa gravis of Herlitz</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1810975" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Junctional epidermolysis bullosa with pyloric atresia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1675672" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_98154" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pretibial dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_36311" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recessive dystrophic epidermolysis bullosa</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648422" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe combined immunodeficiency due to CARMIL2 deficiency</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_76449" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sneddon syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_343607" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Transient bullous dermolysis of the newborn</a></div></span></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38059974">Evidence-based management of cutaneous scarring in dermatology part 2: atrophic acne scarring.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kim EY,
|
||
Wong JH,
|
||
Hussain A,
|
||
Khachemoune A</span><br />
|
||
<span class="medgenPMjournal">Arch Dermatol Res</span>
|
||
2023 Dec 7;316(1):19.
|
||
doi: 10.1007/s00403-023-02737-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38059974" target="_blank">38059974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36469561">Acne Scars: An Update on Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jfri A,
|
||
Alajmi A,
|
||
Alazemi M,
|
||
Ladha MA</span><br />
|
||
<span class="medgenPMjournal">Skin Therapy Lett</span>
|
||
2022 Nov;27(6):6-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36469561" target="_blank">36469561</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31251547">Update on the Treatment of Scars.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González N,
|
||
Goldberg DJ</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2019 Jun 1;18(6):550-555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31251547" target="_blank">31251547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22atrophic%20scars%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (70)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143135">Pediatric joint hypermobility: a diagnostic framework and narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tofts LJ,
|
||
Simmonds J,
|
||
Schwartz SB,
|
||
Richheimer RM,
|
||
O'Connor C,
|
||
Elias E,
|
||
Engelbert R,
|
||
Cleary K,
|
||
Tinkle BT,
|
||
Kline AD,
|
||
Hakim AJ,
|
||
van Rossum MAJ,
|
||
Pacey V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 May 4;18(1):104.
|
||
doi: 10.1186/s13023-023-02717-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143135" target="_blank">37143135</a><a href="/pmc/articles/PMC10157984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33098717">Saline in Dermatology: A literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Amawy HS,
|
||
Sarsik SM</span><br />
|
||
<span class="medgenPMjournal">J Cosmet Dermatol</span>
|
||
2021 Jul;20(7):2040-2051.
|
||
Epub 2020 Nov 5
|
||
doi: 10.1111/jocd.13813.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33098717" target="_blank">33098717</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26829895">Role of radiation therapy in melanomas: Systematic review and best practice in 2016.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fort M,
|
||
Guet S,
|
||
Husheng S,
|
||
Calitchi E,
|
||
Belkacemi Y;
|
||
AROME (Association of Radiotherapy & Oncology of the Mediterranean arEa; www.aromecancer.org);
|
||
TRONE (Transatlantic Radiation Oncology NEtwork)</span><br />
|
||
<span class="medgenPMjournal">Crit Rev Oncol Hematol</span>
|
||
2016 Mar;99:362-75.
|
||
Epub 2016 Jan 21
|
||
doi: 10.1016/j.critrevonc.2016.01.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26829895" target="_blank">26829895</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22147037">Livedoid vasculopathy: an intringuing cutaneous disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Criado PR,
|
||
Rivitti EA,
|
||
Sotto MN,
|
||
Valente NY,
|
||
Aoki V,
|
||
Carvalho JF,
|
||
Vasconcellos C</span><br />
|
||
<span class="medgenPMjournal">An Bras Dermatol</span>
|
||
2011 Sep-Oct;86(5):961-77.
|
||
doi: 10.1590/s0365-05962011000500015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22147037" target="_blank">22147037</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Wenstrup RJ,
|
||
De Paepe A</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):597-605.
|
||
doi: 10.1097/GIM.0b013e3181eed412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20847697" target="_blank">20847697</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (141)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143135">Pediatric joint hypermobility: a diagnostic framework and narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tofts LJ,
|
||
Simmonds J,
|
||
Schwartz SB,
|
||
Richheimer RM,
|
||
O'Connor C,
|
||
Elias E,
|
||
Engelbert R,
|
||
Cleary K,
|
||
Tinkle BT,
|
||
Kline AD,
|
||
Hakim AJ,
|
||
van Rossum MAJ,
|
||
Pacey V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 May 4;18(1):104.
|
||
doi: 10.1186/s13023-023-02717-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143135" target="_blank">37143135</a><a href="/pmc/articles/PMC10157984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21184847">Livedoid vasculopathy as a coagulation disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Criado PR,
|
||
Rivitti EA,
|
||
Sotto MN,
|
||
de Carvalho JF</span><br />
|
||
<span class="medgenPMjournal">Autoimmun Rev</span>
|
||
2011 Apr;10(6):353-60.
|
||
Epub 2010 Dec 22
|
||
doi: 10.1016/j.autrev.2010.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21184847" target="_blank">21184847</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Wenstrup RJ,
|
||
De Paepe A</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):597-605.
|
||
doi: 10.1097/GIM.0b013e3181eed412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20847697" target="_blank">20847697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19945618">Non-herlitz junctional epidermolysis bullosa.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yancey KB,
|
||
Hintner H</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2010 Jan;28(1):67-77.
|
||
doi: 10.1016/j.det.2009.10.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19945618" target="_blank">19945618</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6208783">Punctate inner choroidopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Watzke RC,
|
||
Packer AJ,
|
||
Folk JC,
|
||
Benson WE,
|
||
Burgess D,
|
||
Ober RR</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
1984 Nov;98(5):572-84.
|
||
doi: 10.1016/0002-9394(84)90243-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6208783" target="_blank">6208783</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (127)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36658259">An update on fractional picosecond laser treatment: histology and clinical applications.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou Y,
|
||
Hamblin MR,
|
||
Wen X</span><br />
|
||
<span class="medgenPMjournal">Lasers Med Sci</span>
|
||
2023 Jan 20;38(1):45.
|
||
doi: 10.1007/s10103-022-03704-y.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36658259" target="_blank">36658259</a><a href="/pmc/articles/PMC9852188" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35795892">Platelet-rich plasma in the treatment of scars, to suggest or not to suggest? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi Z,
|
||
Alimohamadi Y,
|
||
Janani M,
|
||
Hejazi P,
|
||
Kamali M,
|
||
Goodarzi A</span><br />
|
||
<span class="medgenPMjournal">J Tissue Eng Regen Med</span>
|
||
2022 Oct;16(10):875-899.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1002/term.3338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35795892" target="_blank">35795892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35667826">Carboxytherapy in dermatology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kroumpouzos G,
|
||
Arora G,
|
||
Kassir M,
|
||
Galadari H,
|
||
Wollina U,
|
||
Lotti T,
|
||
Grabbe S,
|
||
Goldust M</span><br />
|
||
<span class="medgenPMjournal">Clin Dermatol</span>
|
||
2022 May-Jun;40(3):305-309.
|
||
Epub 2021 Aug 20
|
||
doi: 10.1016/j.clindermatol.2021.08.020.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35667826" target="_blank">35667826</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33538106">Microneedling in the treatment of atrophic scars: A systematic review of randomised controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sitohang IBS,
|
||
Sirait SAP,
|
||
Suryanegara J</span><br />
|
||
<span class="medgenPMjournal">Int Wound J</span>
|
||
2021 Oct;18(5):577-585.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1111/iwj.13559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33538106" target="_blank">33538106</a><a href="/pmc/articles/PMC8450803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31251547">Update on the Treatment of Scars.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">González N,
|
||
Goldberg DJ</span><br />
|
||
<span class="medgenPMjournal">J Drugs Dermatol</span>
|
||
2019 Jun 1;18(6):550-555.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31251547" target="_blank">31251547</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (159)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38042013">Deep-seated dermatophytosis caused by Trichophyton rubrum in patient with Becker muscular dystrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ouaaziz I,
|
||
Marchand A,
|
||
Leducq S,
|
||
Mirguet C,
|
||
Pinieux G,
|
||
Bailly É,
|
||
Chesnay A,
|
||
Desoubeaux G</span><br />
|
||
<span class="medgenPMjournal">J Mycol Med</span>
|
||
2024 Mar;34(1):101456.
|
||
Epub 2023 Nov 26
|
||
doi: 10.1016/j.mycmed.2023.101456.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38042013" target="_blank">38042013</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35049061">Brunsting-Perry pemphigoid: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aromolo IF,
|
||
Maronese CA,
|
||
Moltrasio C,
|
||
Genovese G,
|
||
Marzano AV</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2022 Nov;61(11):1353-1358.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1111/ijd.16045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35049061" target="_blank">35049061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22011318">Sweet syndrome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Uihlein LC,
|
||
Brandling-Bennett HA,
|
||
Lio PA,
|
||
Liang MG</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2012 Jan-Feb;29(1):38-44.
|
||
Epub 2011 Oct 20
|
||
doi: 10.1111/j.1525-1470.2011.01534.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22011318" target="_blank">22011318</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11859594">Laser scar revision.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lupton JR,
|
||
Alster TS</span><br />
|
||
<span class="medgenPMjournal">Dermatol Clin</span>
|
||
2002 Jan;20(1):55-65.
|
||
doi: 10.1016/s0733-8635(03)00045-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11859594" target="_blank">11859594</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11218502">Ehlers-Danlos type VIII. Review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Karrer S,
|
||
Landthaler M,
|
||
Schmalz G</span><br />
|
||
<span class="medgenPMjournal">Clin Oral Investig</span>
|
||
2000 Jun;4(2):66-9.
|
||
doi: 10.1007/s007840050117.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11218502" target="_blank">11218502</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (65)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39319841">Early visual intervention, visual function analysis, and grating visual acuity outcomes in children with congenital Zika syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tartarella MB,
|
||
Braga AP,
|
||
Borges JHM,
|
||
Furtado RSAS,
|
||
Diogo NG,
|
||
Verçosa IMC,
|
||
Tartarella-Nascimento E</span><br />
|
||
<span class="medgenPMjournal">Arq Bras Oftalmol</span>
|
||
2024;88(1):e20220375.
|
||
Epub 2024 Sep 23
|
||
doi: 10.5935/0004-2749.2022-0375.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39319841" target="_blank">39319841</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37143135">Pediatric joint hypermobility: a diagnostic framework and narrative review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tofts LJ,
|
||
Simmonds J,
|
||
Schwartz SB,
|
||
Richheimer RM,
|
||
O'Connor C,
|
||
Elias E,
|
||
Engelbert R,
|
||
Cleary K,
|
||
Tinkle BT,
|
||
Kline AD,
|
||
Hakim AJ,
|
||
van Rossum MAJ,
|
||
Pacey V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2023 May 4;18(1):104.
|
||
doi: 10.1186/s13023-023-02717-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37143135" target="_blank">37143135</a><a href="/pmc/articles/PMC10157984" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35795892">Platelet-rich plasma in the treatment of scars, to suggest or not to suggest? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi Z,
|
||
Alimohamadi Y,
|
||
Janani M,
|
||
Hejazi P,
|
||
Kamali M,
|
||
Goodarzi A</span><br />
|
||
<span class="medgenPMjournal">J Tissue Eng Regen Med</span>
|
||
2022 Oct;16(10):875-899.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1002/term.3338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35795892" target="_blank">35795892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20847697">Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malfait F,
|
||
Wenstrup RJ,
|
||
De Paepe A</span><br />
|
||
<span class="medgenPMjournal">Genet Med</span>
|
||
2010 Oct;12(10):597-605.
|
||
doi: 10.1097/GIM.0b013e3181eed412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20847697" target="_blank">20847697</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6456091">Granuloma gluteale infantum with atrophic scars: clinical and histological observations in eleven cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonifazi E,
|
||
Garofalo L,
|
||
Lospalluti M,
|
||
Scardigno A,
|
||
Coviello C,
|
||
Meneghini CL</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Dermatol</span>
|
||
1981 Jan;6(1):23-9.
|
||
doi: 10.1111/j.1365-2230.1981.tb02264.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6456091" target="_blank">6456091</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (130)</a></div></div>
|
||
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|
||
|
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/36183145">Ablative fractional carbon dioxide laser combined with autologous platelet-rich plasma in the treatment of atrophic acne scars: A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aljefri YE,
|
||
Ghaddaf AA,
|
||
Alahmadi RA,
|
||
Alkhamisi TA,
|
||
Alkhunani TA,
|
||
Samarkandy SJ,
|
||
Alamri AM</span><br />
|
||
<span class="medgenPMjournal">Dermatol Ther</span>
|
||
2022 Dec;35(12):e15888.
|
||
Epub 2022 Oct 14
|
||
doi: 10.1111/dth.15888.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36183145" target="_blank">36183145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35795892">Platelet-rich plasma in the treatment of scars, to suggest or not to suggest? A systematic review and meta-analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi Z,
|
||
Alimohamadi Y,
|
||
Janani M,
|
||
Hejazi P,
|
||
Kamali M,
|
||
Goodarzi A</span><br />
|
||
<span class="medgenPMjournal">J Tissue Eng Regen Med</span>
|
||
2022 Oct;16(10):875-899.
|
||
Epub 2022 Jul 6
|
||
doi: 10.1002/term.3338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35795892" target="_blank">35795892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35049061">Brunsting-Perry pemphigoid: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aromolo IF,
|
||
Maronese CA,
|
||
Moltrasio C,
|
||
Genovese G,
|
||
Marzano AV</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2022 Nov;61(11):1353-1358.
|
||
Epub 2022 Jan 20
|
||
doi: 10.1111/ijd.16045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35049061" target="_blank">35049061</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33538106">Microneedling in the treatment of atrophic scars: A systematic review of randomised controlled trials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sitohang IBS,
|
||
Sirait SAP,
|
||
Suryanegara J</span><br />
|
||
<span class="medgenPMjournal">Int Wound J</span>
|
||
2021 Oct;18(5):577-585.
|
||
Epub 2021 Feb 3
|
||
doi: 10.1111/iwj.13559.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33538106" target="_blank">33538106</a><a href="/pmc/articles/PMC8450803" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29744784">Acne Scarring Management: Systematic Review and Evaluation of the Evidence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bhargava S,
|
||
Cunha PR,
|
||
Lee J,
|
||
Kroumpouzos G</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2018 Aug;19(4):459-477.
|
||
doi: 10.1007/s40257-018-0358-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29744784" target="_blank">29744784</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Atrophic%20scars%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (6)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22atrophic%20scars%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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