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<meta name="keywords" content="C0241165, diffusely thickened skin, finding, pachydermia, skin thickening, thick skin, thickened skin, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Laminar thickening of skin." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=66024
|
||
ConceptID=C0241165
|
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-->
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||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Thickened skin</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66024</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.">C0241165</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Skin thickening; Thick skin</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Thick skin (271815000)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0001072">HP:0001072</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>
|
||
<div class="portlet_content ln">Laminar thickening of 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="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0241165[DISCUI]&test_type=Clinical" ref="ncbi_uid=66024">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=66024" ref="ncbi_uid=66024">V</a></span></span><span class="TLline">Thickened skin</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><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="matched_ds">Thickened skin</span><ul><li><span class="TLline"><a href="/medgen/775751" ref="tree=MeSH" title="MedGen record for Epidermal thickening">Epidermal thickening</a></span><ul><li><span class="TLline"><a href="/medgen/54" ref="tree=MeSH" title="MedGen record for Acanthosis nigricans">Acanthosis nigricans</a></span><ul><li><span class="TLline"><a href="/medgen/419638" ref="tree=MeSH" title="MedGen record for Familial acanthosis nigricans">Familial acanthosis nigricans</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/870433" ref="tree=MeSH" title="MedGen record for Generalized keratosis follicularis">Generalized keratosis follicularis</a></span></li><li><span class="TLline"><a href="/medgen/481177" ref="tree=MeSH" title="MedGen record for Hypergranulosis">Hypergranulosis</a></span></li><li><span class="TLline"><a href="/medgen/209030" ref="tree=MeSH" title="MedGen record for Hyperkeratosis">Hyperkeratosis</a></span><ul><li><span class="TLline"><a href="/medgen/1626235" ref="tree=MeSH" title="MedGen record for Cobblestone-like hyperkeratosis">Cobblestone-like hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/38179" ref="tree=MeSH" title="MedGen record for Epidermolytic ichthyosis">Epidermolytic ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/370776" ref="tree=MeSH" title="MedGen record for Generalized hyperkeratosis">Generalized hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/384034" ref="tree=MeSH" title="MedGen record for Gingival hyperkeratosis">Gingival hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/120477" ref="tree=MeSH" title="MedGen record for Hyperkeratosis lenticularis perstans">Hyperkeratosis lenticularis perstans</a></span></li><li><span class="TLline"><a href="/medgen/870445" ref="tree=MeSH" title="MedGen record for Hyperkeratosis with erythema">Hyperkeratosis with erythema</a></span></li><li><span class="TLline"><a href="/medgen/355608" ref="tree=MeSH" title="MedGen record for Linear arrays of macular hyperkeratoses in flexural areas">Linear arrays of macular hyperkeratoses in flexural areas</a></span></li><li><span class="TLline"><a href="/medgen/811321" ref="tree=MeSH" title="MedGen record for Orthokeratotic hyperkeratosis">Orthokeratotic hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/1841721" ref="tree=MeSH" title="MedGen record for Periorificial hyperkeratosis">Periorificial hyperkeratosis</a></span></li><li><span class="TLline"><a href="/medgen/83101" ref="tree=MeSH" title="MedGen record for Phrynoderma">Phrynoderma</a></span></li><li><span class="TLline"><a href="/medgen/870416" ref="tree=MeSH" title="MedGen record for Streaks of hyperkeratosis along each finger onto the palm">Streaks of hyperkeratosis along each finger onto the palm</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7002" ref="tree=MeSH" title="MedGen record for Ichthyosis">Ichthyosis</a></span><ul><li><span class="TLline"><a href="/medgen/78092" ref="tree=MeSH" title="MedGen record for Acquired ichthyosis">Acquired ichthyosis</a></span></li><li><span class="TLline"><a href="/medgen/854762" ref="tree=MeSH" title="MedGen record for Autosomal recessive congenital ichthyosis 2">Autosomal recessive congenital ichthyosis 2</a></span></li><li><span class="TLline"><a href="/medgen/86936" ref="tree=MeSH" title="MedGen record for Congenital ichthyosiform erythroderma">Congenital ichthyosiform erythroderma</a></span></li><li><span class="TLline"><a href="/medgen/38180" ref="tree=MeSH" title="MedGen record for Congenital nonbullous ichthyosiform erythroderma">Congenital nonbullous ichthyosiform erythroderma</a></span></li><li><span class="TLline"><a href="/medgen/765442" ref="tree=MeSH" title="MedGen record for Generalized 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epidermolytic</a></span></li><li><span class="TLline"><a href="/medgen/867218" ref="tree=MeSH" title="MedGen record for Postnatal-onset ichthyosiform erythroderma">Postnatal-onset ichthyosiform erythroderma</a></span></li><li><span class="TLline"><a href="/medgen/11443" ref="tree=MeSH" title="MedGen record for Sjögren-Larsson syndrome">Sjögren-Larsson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375169" ref="tree=MeSH" title="MedGen record for Orthokeratosis">Orthokeratosis</a></span></li><li><span class="TLline"><a href="/medgen/10572" ref="tree=MeSH" title="MedGen record for Parakeratosis">Parakeratosis</a></span><ul><li><span class="TLline"><a href="/medgen/473366" ref="tree=MeSH" title="MedGen record for Hyperparakeratosis">Hyperparakeratosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56518" ref="tree=MeSH" title="MedGen record for Porokeratosis">Porokeratosis</a></span><ul><li><span class="TLline"><a href="/medgen/120561" ref="tree=MeSH" title="MedGen record for Disseminated superficial actinic porokeratosis">Disseminated superficial actinic porokeratosis</a></span></li><li><span class="TLline"><a href="/medgen/56517" ref="tree=MeSH" title="MedGen record for Porokeratosis of Mantoux">Porokeratosis of Mantoux</a></span></li><li><span class="TLline"><a href="/medgen/181842" ref="tree=MeSH" title="MedGen record for Porokeratosis of Mibelli">Porokeratosis of Mibelli</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/315951" ref="tree=MeSH" title="MedGen record for Morphea">Morphea</a></span></li><li><span class="TLline"><a href="/medgen/472893" ref="tree=MeSH" title="MedGen record for Sclerodactyly">Sclerodactyly</a></span></li><li><span class="TLline"><a href="/medgen/3770" ref="tree=MeSH" title="MedGen record for Scleroderma">Scleroderma</a></span><ul><li><span class="TLline"><a href="/medgen/48586" ref="tree=MeSH" title="MedGen record for Localized scleroderma">Localized scleroderma</a></span><ul><li><span class="TLline"><a href="/medgen/859215" ref="tree=MeSH" title="MedGen record for Circumscribed Morphea">Circumscribed Morphea</a></span></li><li><span class="TLline"><a href="/medgen/858243" ref="tree=MeSH" title="MedGen record for Disabling pansclerotic morphea of childhood">Disabling pansclerotic morphea of childhood</a></span></li><li><span class="TLline"><a href="/medgen/538045" ref="tree=MeSH" title="MedGen record for Generalized morphea">Generalized morphea</a></span></li><li><span class="TLline"><a href="/medgen/75518" ref="tree=MeSH" title="MedGen record for Linear scleroderma">Linear scleroderma</a></span></li><li><span class="TLline"><a href="/medgen/857874" ref="tree=MeSH" title="MedGen record for Mixed Morphea">Mixed Morphea</a></span></li><li><span class="TLline"><a href="/medgen/857586" ref="tree=MeSH" title="MedGen record for Pansclerotic Morphea">Pansclerotic Morphea</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1613012" ref="tree=MeSH" title="MedGen record for Proximal scleroderma">Proximal scleroderma</a></span></li><li><span class="TLline"><a href="/medgen/853197" ref="tree=MeSH" title="MedGen record for Scleroderma Renal Crisis">Scleroderma Renal Crisis</a></span></li><li><span class="TLline"><a href="/medgen/19897" ref="tree=MeSH" title="MedGen record for Systemic sclerosis">Systemic sclerosis</a></span><ul><li><span class="TLline"><a href="/medgen/965566" ref="tree=MeSH" title="MedGen record for Diffuse cutaneous systemic sclerosis">Diffuse cutaneous systemic sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/419841" ref="tree=MeSH" title="MedGen record for Juvenile Systemic Sclerosis">Juvenile Systemic Sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/148187" ref="tree=MeSH" title="MedGen record for Limited cutaneous systemic sclerosis">Limited cutaneous systemic sclerosis</a></span></li><li><span class="TLline"><a href="/medgen/220934" ref="tree=MeSH" title="MedGen record for Systemic sclerosis sine scleroderma">Systemic sclerosis sine scleroderma</a></span></li><li><span class="TLline"><a href="/medgen/219839" ref="tree=MeSH" title="MedGen record for Systemic sclerosis, diffuse">Systemic sclerosis, diffuse</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 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="divPopper rprt" id="rdis_6112"><div><strong>Lipid proteinosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6112</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.">C0023795</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Lipoid proteinosis (LP) is characterized by deposition of hyaline-like material in various tissues resulting in a hoarse voice from early infancy, vesicles and hemorrhagic crusts in the mouth and on the face and extremities, verrucous and keratotic cutaneous lesions on extensor surfaces (especially the elbows), and moniliform blepharosis (multiple beaded papules along the eyelid margins and inner canthus). Extracutaneous manifestations may include epilepsy, neuropsychiatric disorders, spontaneous CNS hemorrhage, and asymptomatic multiple yellowish nodules throughout the gastrointestinal tract. Generally, the disease course is chronic and fluctuating. Males and females are affected equally. Affected individuals have a normal life span unless they experience laryngeal obstruction.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6112">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_44514"><div><strong>Mucopolysaccharidosis type 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44514</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.">C0026709</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/44514">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_10988"><div><strong>Pseudo-Hurler polydystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10988</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.">C0033788</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">GNPTAB-related disorders comprise the phenotypes mucolipidosis II (ML II) and mucolipidosis IIIa/ß (ML IIIa/ß), and phenotypes intermediate between ML II and ML IIIa/ß. ML II is evident at birth and slowly progressive; death most often occurs in early childhood. Orthopedic abnormalities present at birth may include thoracic deformity, kyphosis, clubfeet, deformed long bones, and/or dislocation of the hip(s). Growth often ceases in the second year of life; contractures develop in all large joints. The skin is thickened, facial features are coarse, and gingiva are hypertrophic. All children have cardiac involvement, most commonly thickening and insufficiency of the mitral valve and, less frequently, the aortic valve. Progressive mucosal thickening narrows the airways, and gradual stiffening of the thoracic cage contributes to respiratory insufficiency, the most common cause of death. ML IIIa/ß becomes evident at about age three years with slow growth rate and short stature; joint stiffness and pain initially in the shoulders, hips, and fingers; gradual mild coarsening of facial features; and normal to mildly impaired cognitive development. Pain from osteoporosis becomes more severe during adolescence. Cardiorespiratory complications (restrictive lung disease, thickening and insufficiency of the mitral and aortic valves, left and/or right ventricular hypertrophy) are common causes of death, typically in early to middle adulthood. Phenotypes intermediate between ML II and ML IIIa/ß are characterized by physical growth in infancy that resembles that of ML II and neuromotor and speech development that resemble that of ML IIIa/ß.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/10988">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_88566"><div><strong>Mucopolysaccharidosis, MPS-I-H/S</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>88566</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.">C0086431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Mucopolysaccharidosis type I (MPS I) is a progressive multisystem disorder with features ranging over a continuum of severity. While affected individuals have traditionally been classified as having one of three MPS I syndromes (Hurler syndrome, Hurler-Scheie syndrome, or Scheie syndrome), no easily measurable biochemical differences have been identified and the clinical findings overlap. Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. Severe MPS I: Infants appear normal at birth. Typical early manifestations are nonspecific (e.g., umbilical or inguinal hernia, frequent upper respiratory tract infections before age 1 year). Coarsening of the facial features may not become apparent until after age one year. Gibbus deformity of the lower spine is common and often noted within the first year. Progressive skeletal dysplasia (dysostosis multiplex) involving all bones is universal, as is progressive arthropathy involving most joints. By age three years, linear growth decreases. Intellectual disability is progressive and profound but may not be readily apparent in the first year of life. Progressive cardiorespiratory involvement, hearing loss, and corneal clouding are common. Without treatment, death (typically from cardiorespiratory failure) usually occurs within the first ten years of life. Attenuated MPS I: Clinical onset is usually between ages three and ten years. The severity and rate of disease progression range from serious life-threatening complications leading to death in the second to third decade, to a normal life span complicated by significant disability from progressive joint manifestations and cardiorespiratory disease. While some individuals have no neurologic involvement and psychomotor development may be normal in early childhood, learning disabilities and psychiatric manifestations can be present later in life. Hearing loss, cardiac valvular disease, respiratory involvement, and corneal clouding are common.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/88566">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_78549"><div><strong>Acromicric dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78549</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.">C0265287</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
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<div class="spaceAbove">Acromicric dysplasia (ACMICD) is an autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent philtrum, and thick lips with a small mouth. Other characteristic features include hoarse voice and pseudomuscular build, and there are distinct skeletal features as well, including an internal notch of the femoral head, internal notch of the second metacarpal, and external notch of the fifth metacarpal (summary by Le Goff et al., 2011). Allelic disorders with overlapping skeletal and joint features include geleophysic dysplasia-2 (GPHYSD2; 614185) and the autosomal dominant form of Weill-Marchesani syndrome (608328).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/78549">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_167103"><div><strong>Myhre syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167103</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.">C0796081</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Myhre syndrome is a multisystem progressive connective tissue disorder that often results in significant complications. The highly distinctive (and often severe) findings of joint stiffness, restrictive lung and cardiovascular disease, progressive and proliferative fibrosis, and thickening of the skin usually occur spontaneously. Some proliferation such as abnormal scarring or adhesions may follow trauma, invasive medical procedures, or surgery. Effusions of the heart, airways, lungs, uterus, and peritoneum may occur and can progress to fibrosis. Most affected individuals have characteristic facial features (short palpebral fissures, deeply set eyes, maxillary underdevelopment, short philtrum, thin vermilion of the upper lip, narrow mouth, and prognathism) and developmental delay / cognitive disability, typically in the mild-to-moderate range. Neurobehavioral issues may include autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD), and/or anxiety. Although immunoglobulin (Ig) G and IgA deficiency are rare, affected individuals can experience recurrent infections (including otitis media, sinusitis, mastoiditis, or croup). Hearing loss can progress over time. Growth may be impaired in early life. Most adolescents develop obesity. Eye findings can include refractive errors, astigmatism, corectopia, and optic nerve anomalies. Gastrointestinal (GI) issues may include gastroesophageal reflux disease, constipation, and encopresis. Less commonly, stenosis of the GI tract, Hirschsprung disease, and/or metabolic dysfunction-associated liver disease may be observed.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/167103">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_342428"><div><strong>Multicentric osteolysis nodulosis arthropathy spectrum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342428</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.">C1850155</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/342428">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_387794"><div><strong>Dermatoleukodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387794</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.">C1857314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">This syndrome is characterized by the association of a progressive leukodystrophy marked by generalized mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/387794">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_400936"><div><strong>Acroosteolysis-keloid-like lesions-premature aging syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400936</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.">C1866182</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Penttinen syndrome (PENTT) is characterized by a prematurely aged appearance involving lipoatrophy and epidermal and dermal atrophy, as well as hypertrophic lesions that resemble scars, thin hair, proptosis, underdeveloped cheekbones, and marked acroosteolysis (Johnston et al., 2015).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/400936">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_357183"><div><strong>Scalp-ear-nipple syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>357183</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.">C1867020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/357183">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_358388"><div><strong>Weill-Marchesani syndrome 2, dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>358388</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.">C1869115</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/358388">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_382429"><div><strong>Hypertrophic osteoarthropathy, primary, autosomal dominant</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>382429</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.">C2674695</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Autosomal dominant primary hypertrophic osteoarthropathy (PHOAD) is characterized by 3 major features: digital clubbing, periostosis, and pachydermia. Patients may also experience joint swelling and pain, and some have reported gastrointestinal symptoms, including watery diarrhea. Males are more commonly affected, and more severely affected, than females (Lee et al., 2016; Xu et al., 2021). Touraine et al. (1935) recognized pachydermoperiostosis (PDP) as a familial disorder with 3 presentations or forms: a complete form with periostosis and pachydermia, an incomplete form without pachydermia, and a forme fruste with pachydermia and minimal skeletal changes. Genetic Heterogeneity Autosomal recessive forms of PHO have been reported (see 259100), including PHOAR2E (614441), which is also caused by mutation in the SLCO2A1 gene. Patients with autosomal recessive PHO do not experience gastrointestinal symptoms.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/382429">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_398130"><div><strong>Histiocytic medullary reticulosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>398130</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.">C2700553</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). Another distinct form of familial histiocytic reticulocytosis (267700) is caused by mutation in the perforin-1 gene (PRF1; 170280) on chromosome 10q22.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/398130">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_479777"><div><strong>Geleophysic dysplasia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>479777</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.">C3278147</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/479777">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_481684"><div><strong>Geleophysic dysplasia 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>481684</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.">C3280054</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/481684">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_482430"><div><strong>Hypertrophic osteoarthropathy, primary, autosomal recessive, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482430</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.">C3280800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">PHOAR2-enteropathy syndrome (PHOAR2E) is characterized by primary hypertrophic osteoarthropathy (PHO) and/or chronic nonspecific ulcers (CNSU) of the small intestine. The cardinal features of PHO are digital clubbing, pachydermia, and periostosis; other manifestations include swelling and pain of the large joints, hyperhidrosis, seborrhea, and acne. CNSU often presents with chronic unexplained anemia and abdominal pain, and patients may exhibit edema due to hypoalbuminemia. Radiologic imaging or endoscopy shows multiple small ulcers, predominantly in the ileum, although the stomach, duodenum, and jejunum are often involved. PHO is more frequent and more severe in male patients, who often also report watery diarrhea, whereas CNSU is more often diagnosed in female patients, who may also show features of PHO such as digital clubbing or arthralgias and swelling of the joints. The same mutations in the SLCO2A1 gene have been reported in patients presenting with either diagnosis, and presumed sex-related modifiers of the manifestations of disease or other genotype/phenotype correlates have yet to be elucidated (Li et al., 2017; Umeno et al., 2018; Hong et al., 2022; Kimball et al., 2024). For a discussion of genetic heterogeneity of PHO, see PHOAR1 (259100).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/482430">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_501209"><div><strong>Acrocephalopolydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>501209</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.">C3495588</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/501209">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934594"><div><strong>Mucopolysaccharidosis-plus syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934594</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.">C4310627</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934594">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1615724"><div><strong>Geleophysic dysplasia 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615724</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.">C4540511</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Geleophysic dysplasia, a progressive condition resembling a lysosomal storage disorder, is characterized by short stature, short hands and feet, progressive joint limitation and contractures, distinctive facial features, progressive cardiac valvular disease, and thickened skin. Intellect is normal. The characteristic clinical findings are likely to be present in the first year of life. Cardiac, airway, and pulmonary involvement result in death before age five years in approximately 33% of individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1615724">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1637058"><div><strong>Weill-Marchesani syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1637058</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.">C4552002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Weill-Marchesani syndrome (WMS) is a connective tissue disorder characterized by abnormalities of the lens of the eye, short stature, brachydactyly, joint stiffness, and cardiovascular defects. The ocular problems, typically recognized in childhood, include microspherophakia (small spherical lens), myopia secondary to the abnormal shape of the lens, ectopia lentis (abnormal position of the lens), and glaucoma, which can lead to blindness. Height of adult males is 142-169 cm; height of adult females is 130-157 cm. Autosomal recessive WMS cannot be distinguished from autosomal dominant WMS by clinical findings alone.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1637058">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1805033"><div><strong>Hyaline fibromatosis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1805033</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.">C5574677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyaline fibromatosis syndrome (HFS) is characterized by hyaline deposits in the papillary dermis and other tissues. It can present at birth or in infancy with severe pain with movement, progressive joint contractures, and often with severe motor disability, thickened skin, and hyperpigmented macules/patches over bony prominences of the joints. Gingival hypertrophy, skin nodules, pearly papules of the face and neck, and perianal masses are common. Complications of protein-losing enteropathy and failure to thrive can be life threatening. Cognitive development is normal. Many children with the severe form (previously called infantile systemic hyalinosis) have a significant risk of morbidity or mortality in early childhood; some with a milder phenotype (previously called juvenile hyaline fibromatosis) survive into adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1805033">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801155"><div><strong>Restrictive dermopathy 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801155</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.">C5676942</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Restrictive dermopathy is a rare genodermatosis characterized mainly by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial dysmorphism (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures, and an early neonatal lethal course. Liveborn children usually die within the first week of life (summary by Navarro et al., 2004). For a discussion of genetic heterogeneity of restrictive dermopathy, see RSDM1 (275210).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801155">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1841075"><div><strong>Hatipoglu immunodeficiency syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1841075</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.">C5830439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hatipoglu immunodeficiency syndrome (HATIS) is an autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections (Harapas et al., 2022).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1841075">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1861084"><div><strong>Cutaneous porphyria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1861084</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.">C5886774</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Congenital erythropoietic porphyria (CEP) is characterized in most individuals by severe cutaneous photosensitivity with blistering and increased friability of the skin over light-exposed areas. Onset in most affected individuals occurs at birth or early infancy. The first manifestation is often pink-to-dark red discoloration of the urine. Hemolytic anemia is common and can range from mild to severe, with some affected individuals requiring chronic blood transfusions. Porphyrin deposition may lead to corneal ulcers and scarring, reddish-brown discoloration of the teeth (erythrodontia), and bone loss and/or expansion of the bone marrow. The phenotypic spectrum, however, is broad and ranges from nonimmune hydrops fetalis in utero to late-onset disease with only mild cutaneous manifestations in adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1861084">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_501209" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acrocephalopolydactyly</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_78549" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acromicric dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acroosteolysis-keloid-like lesions-premature aging syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1861084" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cutaneous porphyria</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dermatoleukodystrophy</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (24)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_479777" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_481684" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1615724" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Geleophysic dysplasia 3</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1841075" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hatipoglu immunodeficiency syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_398130" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Histiocytic medullary reticulosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1805033" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyaline fibromatosis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_382429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic osteoarthropathy, primary, autosomal dominant</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482430" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertrophic osteoarthropathy, primary, autosomal recessive, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_6112" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lipid proteinosis</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_44514" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis type 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_88566" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis, MPS-I-H/S</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934594" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mucopolysaccharidosis-plus syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_342428" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Multicentric osteolysis nodulosis arthropathy spectrum</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167103" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myhre syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_10988" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pseudo-Hurler polydystrophy</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801155" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Restrictive dermopathy 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_357183" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scalp-ear-nipple syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1637058" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_358388" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Weill-Marchesani syndrome 2, dominant</a></div></span></div></div>
|
||
</div>
|
||
|
||
<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/38997468">Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanbelleghem E,
|
||
Van Damme T,
|
||
Beyens A,
|
||
Symoens S,
|
||
Claes K,
|
||
De Backer J,
|
||
Meerschaut I,
|
||
Vanommeslaeghe F,
|
||
Delanghe SE,
|
||
van den Ende J,
|
||
Beyltjens T,
|
||
Scimone ER,
|
||
Lindsay ME,
|
||
Schimmenti LA,
|
||
Hinze AM,
|
||
Dunn E,
|
||
Gomez-Ospina N,
|
||
Vandernoot I,
|
||
Delguste T,
|
||
Coppens S,
|
||
Cormier-Daire V,
|
||
Tartaglia M,
|
||
Garavelli L,
|
||
Shieh J,
|
||
Demir Ş,
|
||
Arslan Ateş E,
|
||
Zenker M,
|
||
Rohanizadegan M,
|
||
Rivera-Cruz G,
|
||
Douzgou S;
|
||
Myhre Syndrome Foundation,
|
||
Lin AE,
|
||
Callewaert B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Sep;32(9):1086-1094.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1038/s41431-024-01664-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997468" target="_blank">38997468</a><a href="/pmc/articles/PMC11369149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33080548">Differential diagnosis of benign and malignant male breast lesions in mammography.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Huang Y,
|
||
Xiao Q,
|
||
Sun Y,
|
||
Li Q,
|
||
Wang S,
|
||
Gu Y</span><br />
|
||
<span class="medgenPMjournal">Eur J Radiol</span>
|
||
2020 Nov;132:109339.
|
||
Epub 2020 Oct 9
|
||
doi: 10.1016/j.ejrad.2020.109339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33080548" target="_blank">33080548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30181299">Discovery of the IL-23/IL-17 Signaling Pathway and the Treatment of Psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkes JE,
|
||
Yan BY,
|
||
Chan TC,
|
||
Krueger JG</span><br />
|
||
<span class="medgenPMjournal">J Immunol</span>
|
||
2018 Sep 15;201(6):1605-1613.
|
||
doi: 10.4049/jimmunol.1800013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30181299" target="_blank">30181299</a><a href="/pmc/articles/PMC6129988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22thickened%20skin%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 (6)</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/35907855">Natural history of Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang DD,
|
||
Rio M,
|
||
Michot C,
|
||
Boddaert N,
|
||
Yacoub W,
|
||
Garcelon N,
|
||
Thierry B,
|
||
Bonnet D,
|
||
Rondeau S,
|
||
Herve D,
|
||
Guey S,
|
||
Angoulvant F,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2022 Jul 30;17(1):304.
|
||
doi: 10.1186/s13023-022-02447-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35907855" target="_blank">35907855</a><a href="/pmc/articles/PMC9338657" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27601403">Cutaneous Manifestations of Mucopolysaccharidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran MC,
|
||
Lam JM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Nov;33(6):594-601.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1111/pde.12971.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27601403" target="_blank">27601403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24580733">Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Michot C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Jun;85(6):503-13.
|
||
Epub 2014 Apr 2
|
||
doi: 10.1111/cge.12365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24580733" target="_blank">24580733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1523446">Eosinophilia-myalgia syndrome: the aftermath.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sack KE,
|
||
Criswell LA</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1992 Sep;85(9):878-82.
|
||
doi: 10.1097/00007611-199209000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1523446" target="_blank">1523446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/6512056">Nodular (keloidal) scleroderma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James WD,
|
||
Berger TG,
|
||
Butler DF,
|
||
Tuffanelli DL</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1984 Dec;11(6):1111-4.
|
||
doi: 10.1016/s0190-9622(84)70268-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/6512056" target="_blank">6512056</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thickened%20skin%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 (33)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39585292">SCLEREDEMA DIABETICORUM; A RARE DISEASE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waqar A,
|
||
Khurshied S,
|
||
Khan MA,
|
||
Baloch A,
|
||
Khan MR,
|
||
Khurshid N</span><br />
|
||
<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
|
||
2024 Jan-Mar;36(1):229-231.
|
||
doi: 10.55519/JAMC-01-12868.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39585292" target="_blank">39585292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27672688">Depigmented patches, mild scaling on newborn · Dx?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dasarathy J,
|
||
Tandra S,
|
||
Chaudhry L,
|
||
Alexander C</span><br />
|
||
<span class="medgenPMjournal">J Fam Pract</span>
|
||
2016 Sep;65(9):620-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27672688" target="_blank">27672688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14726869">Infantile systemic hyalinosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shin HT,
|
||
Paller A,
|
||
Hoganson G,
|
||
Willner JP,
|
||
Chang MW,
|
||
Orlow SJ</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2004 Feb;50(2 Suppl):S61-4.
|
||
doi: 10.1016/s0190-9622(03)02798-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14726869" target="_blank">14726869</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1523446">Eosinophilia-myalgia syndrome: the aftermath.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sack KE,
|
||
Criswell LA</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1992 Sep;85(9):878-82.
|
||
doi: 10.1097/00007611-199209000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1523446" target="_blank">1523446</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2732993">Moore-Federman syndrome and acromicric dysplasia: are they the same entity?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Winter RM,
|
||
Patton MA,
|
||
Challener J,
|
||
Mueller RF,
|
||
Baraitser M</span><br />
|
||
<span class="medgenPMjournal">J Med Genet</span>
|
||
1989 May;26(5):320-5.
|
||
doi: 10.1136/jmg.26.5.320.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2732993" target="_blank">2732993</a><a href="/pmc/articles/PMC1015599" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thickened%20skin%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 (55)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39561270">Developing Thick Skin: Pediatric Eczema in Vulnerable Communities and FDA Regulation of Cosmetic Products.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jones A</span><br />
|
||
<span class="medgenPMjournal">J Law Health</span>
|
||
2024;38(1):174-195.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39561270" target="_blank">39561270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30181299">Discovery of the IL-23/IL-17 Signaling Pathway and the Treatment of Psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkes JE,
|
||
Yan BY,
|
||
Chan TC,
|
||
Krueger JG</span><br />
|
||
<span class="medgenPMjournal">J Immunol</span>
|
||
2018 Sep 15;201(6):1605-1613.
|
||
doi: 10.4049/jimmunol.1800013.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30181299" target="_blank">30181299</a><a href="/pmc/articles/PMC6129988" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28403910">Topical application of Jaungo in atopic dermatitis patients: study protocol for a randomized, controlled trial.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yun Y,
|
||
Ko Y,
|
||
Ahn JH,
|
||
Jang BH,
|
||
Kim K,
|
||
Ko SG,
|
||
Choi I</span><br />
|
||
<span class="medgenPMjournal">Trials</span>
|
||
2017 Apr 12;18(1):176.
|
||
doi: 10.1186/s13063-017-1920-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28403910" target="_blank">28403910</a><a href="/pmc/articles/PMC5389157" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17507905">Gadolinium and nephrogenic systemic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grobner T,
|
||
Prischl FC</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2007 Aug;72(3):260-4.
|
||
Epub 2007 May 16
|
||
doi: 10.1038/sj.ki.5002338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17507905" target="_blank">17507905</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1523446">Eosinophilia-myalgia syndrome: the aftermath.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sack KE,
|
||
Criswell LA</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1992 Sep;85(9):878-82.
|
||
doi: 10.1097/00007611-199209000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1523446" target="_blank">1523446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thickened%20skin%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 (30)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39585292">SCLEREDEMA DIABETICORUM; A RARE DISEASE.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Waqar A,
|
||
Khurshied S,
|
||
Khan MA,
|
||
Baloch A,
|
||
Khan MR,
|
||
Khurshid N</span><br />
|
||
<span class="medgenPMjournal">J Ayub Med Coll Abbottabad</span>
|
||
2024 Jan-Mar;36(1):229-231.
|
||
doi: 10.55519/JAMC-01-12868.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39585292" target="_blank">39585292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27601403">Cutaneous Manifestations of Mucopolysaccharidoses.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tran MC,
|
||
Lam JM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Dermatol</span>
|
||
2016 Nov;33(6):594-601.
|
||
Epub 2016 Sep 7
|
||
doi: 10.1111/pde.12971.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27601403" target="_blank">27601403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24580733">Myhre syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Le Goff C,
|
||
Michot C,
|
||
Cormier-Daire V</span><br />
|
||
<span class="medgenPMjournal">Clin Genet</span>
|
||
2014 Jun;85(6):503-13.
|
||
Epub 2014 Apr 2
|
||
doi: 10.1111/cge.12365.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24580733" target="_blank">24580733</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18222328">Infantile systemic hyalinosis: Case report and review of the literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lindvall LE,
|
||
Kormeili T,
|
||
Chen E,
|
||
Ramirez MC,
|
||
Grum-Tokars V,
|
||
Glucksman MJ,
|
||
Martignetti JA,
|
||
Zaragoza MV,
|
||
Dyson SW</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
2008 Feb;58(2):303-7.
|
||
doi: 10.1016/j.jaad.2007.06.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18222328" target="_blank">18222328</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1523446">Eosinophilia-myalgia syndrome: the aftermath.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sack KE,
|
||
Criswell LA</span><br />
|
||
<span class="medgenPMjournal">South Med J</span>
|
||
1992 Sep;85(9):878-82.
|
||
doi: 10.1097/00007611-199209000-00005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1523446" target="_blank">1523446</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thickened%20skin%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 (20)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38997468">Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vanbelleghem E,
|
||
Van Damme T,
|
||
Beyens A,
|
||
Symoens S,
|
||
Claes K,
|
||
De Backer J,
|
||
Meerschaut I,
|
||
Vanommeslaeghe F,
|
||
Delanghe SE,
|
||
van den Ende J,
|
||
Beyltjens T,
|
||
Scimone ER,
|
||
Lindsay ME,
|
||
Schimmenti LA,
|
||
Hinze AM,
|
||
Dunn E,
|
||
Gomez-Ospina N,
|
||
Vandernoot I,
|
||
Delguste T,
|
||
Coppens S,
|
||
Cormier-Daire V,
|
||
Tartaglia M,
|
||
Garavelli L,
|
||
Shieh J,
|
||
Demir Ş,
|
||
Arslan Ateş E,
|
||
Zenker M,
|
||
Rohanizadegan M,
|
||
Rivera-Cruz G,
|
||
Douzgou S;
|
||
Myhre Syndrome Foundation,
|
||
Lin AE,
|
||
Callewaert B</span><br />
|
||
<span class="medgenPMjournal">Eur J Hum Genet</span>
|
||
2024 Sep;32(9):1086-1094.
|
||
Epub 2024 Jul 12
|
||
doi: 10.1038/s41431-024-01664-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38997468" target="_blank">38997468</a><a href="/pmc/articles/PMC11369149" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38067749">Utility of Thermographic Imaging for Callus Identification in Wound and Foot Care.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sadrzadeh-Afsharazar F,
|
||
Raizman R,
|
||
Saiko G</span><br />
|
||
<span class="medgenPMjournal">Sensors (Basel)</span>
|
||
2023 Nov 23;23(23)
|
||
doi: 10.3390/s23239376.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38067749" target="_blank">38067749</a><a href="/pmc/articles/PMC10708640" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21390347">Ultrasound findings in AL musculoskeletal amyloidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Felea I,
|
||
Fodor D,
|
||
Schiotis R,
|
||
Georgiu C,
|
||
Bojan A,
|
||
Rednic S</span><br />
|
||
<span class="medgenPMjournal">Med Ultrason</span>
|
||
2011 Mar;13(1):76-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21390347" target="_blank">21390347</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18226001">Patient characteristics and risk factors for nephrogenic systemic fibrosis following gadolinium exposure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grobner T,
|
||
Prischl FC</span><br />
|
||
<span class="medgenPMjournal">Semin Dial</span>
|
||
2008 Mar-Apr;21(2):135-9.
|
||
Epub 2008 Jan 23
|
||
doi: 10.1111/j.1525-139X.2007.00406.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18226001" target="_blank">18226001</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17507905">Gadolinium and nephrogenic systemic fibrosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grobner T,
|
||
Prischl FC</span><br />
|
||
<span class="medgenPMjournal">Kidney Int</span>
|
||
2007 Aug;72(3):260-4.
|
||
Epub 2007 May 16
|
||
doi: 10.1038/sj.ki.5002338.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17507905" target="_blank">17507905</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Thickened%20skin%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 (18)</a></div></div>
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
|
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0241165%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C0241165%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0241165%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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