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<!--
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||
UID=375169
|
||
ConceptID=C1843359
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Orthokeratosis</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>375169</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.">C1843359</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Orthokeratosis (708474007)</td></tr>
|
||
<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:0040162">HP:0040162</a></td></tr>
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</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">Formation of an anuclear keratin layer [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=C1843359[DISCUI]&test_type=Clinical" ref="ncbi_uid=375169">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 unavailable" title="ClinVar">V</span></span><span class="TLline">Orthokeratosis</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="TLline"><a href="/medgen/66024" ref="tree=MeSH" title="MedGen record for Thickened skin">Thickened skin</a></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="matched_ds">Orthokeratosis</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_45939"><div><strong>Pityriasis rubra pilaris</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45939</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.">C0032027</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45939">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82697"><div><strong>Child syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82697</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.">C0265267</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">NSDHL-related disorders include CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked disorder that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Onychodystrophy and periungual hyperkeratosis are common. Heart, lung, and kidney malformations can also occur. CK syndrome is characterized by mild-to-severe cognitive impairment and behavior problems (aggression, attention-deficit/hyperactivity disorder [ADHD], and irritability). All reported affected males have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82697">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_208666"><div><strong>Odonto-onycho-dermal dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208666</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.">C0796093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Odontoonychodermal dysplasia (OODD) is an autosomal recessive disorder characterized by dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, hyperkeratosis of the palms and soles, hypo- and hyperhidrosis of the skin, and atrophic patches on the face (summary by Adaimy et al., 2007; Yu et al., 2019).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/208666">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_372099"><div><strong>Punctate palmoplantar keratoderma type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>372099</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.">C1835662</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A very rare hereditary skin disease with manifestation of irregularly distributed epidermal hyperkeratosis of the palms and soles. Reported in 35 families worldwide to date. The lesions usually start to develop in early adolescence but can also present later in life. Mutations in the AAGAB gene (15q22.33-q23) have recently been identified as one of the causes. Mutations in the COL14A1 gene (8q23) have also been identified as causal in some cases in Asia that seem to have a similar phenotype</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/372099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334382"><div><strong>Neonatal ichthyosis-sclerosing cholangitis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334382</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.">C1843355</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis (ILVASC) is a rare autosomal recessive syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis, and sclerosing cholangitis (summary by Feldmeyer et al., 2006).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334382">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_334410"><div><strong>Annular epidermolytic ichthyosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334410</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.">C1843463</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/334410">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_347628"><div><strong>Autosomal recessive congenital ichthyosis 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347628</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.">C1858133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/347628">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_395099"><div><strong>Loricrin keratoderma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>395099</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.">C1858805</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Variant Vohwinkel syndrome is a rare genodermatosis characterized by hyperkeratosis of the palms and soles, with a honeycomb appearance; constricting bands encircling the digits of the hands and feet, which frequently lead to autoamputation of the fifth digits; starfish-shaped, salmon-colored hyperkeratotic lesions, or knuckle pads, on the dorsal surface of the hands; and ichthyosiform dermatosis. The pathognomonic histologic finding is markedly thickened stratum corneum, hypergranulosis, and particularly, hyperkeratosis with round nuclei retained in the stratum corneum. Unlike classic Vohwinkel syndrome, hearing loss is not a feature (summary by Maestrini et al., 1996).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/395099">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_436851"><div><strong>Autosomal recessive congenital ichthyosis 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436851</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.">C2677065</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/436851">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_765943"><div><strong>Autosomal recessive congenital ichthyosis 8</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>765943</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.">C3553029</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/765943">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_767263"><div><strong>Autosomal recessive congenital ichthyosis 9</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>767263</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.">C3554349</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). Neither histopathologic findings nor ultrastructural features clearly distinguish between NCIE and LI. In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al., 2003). At the First Ichthyosis Consensus Conference in Soreze in 2009, the term 'autosomal recessive congenital ichthyosis' (ARCI) was designated to encompass LI, NCIE, and harlequin ichthyosis (ARCI4B; 242500) (Oji et al., 2010). NCIE is characterized by prominent erythroderma and fine white, superficial, semiadherent scales. Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al., 2000). In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al., 2006). In later life, the skin in ARCI may have scales that cover the entire body surface, including the flexural folds, and the scales are highly variable in size and color. Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/767263">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816049"><div><strong>Severe dermatitis-multiple allergies-metabolic wasting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816049</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.">C3809719</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816049">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_816111"><div><strong>Hypopigmentation-punctate palmoplantar keratoderma syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816111</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.">C3809781</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cole disease (COLED) is a rare autosomal dominant disorder characterized by congenital or early-onset punctate keratoderma associated with irregularly shaped hypopigmented macules, which are typically found over the arms and legs but not the trunk or acral regions. Skin biopsies of palmoplantar lesions show nonspecific changes including hyperorthokeratosis, hypergranulosis, and acanthosis. Hypopigmented areas of skin, however, reveal a reduction in melanin content in keratinocytes but not in melanocytes, as well as hyperkeratosis and a normal number of melanocytes. Ultrastructurally, melanocytes show a disproportionately large number of melanosomes in the cytoplasm and dendrites, whereas keratinocytes show a paucity of these organelles, suggestive of impaired melanosome transfer (summary by Eytan et al., 2013). Some patients also exhibit calcinosis cutis or early-onset calcific tendinopathy (Eytan et al., 2013).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/816111">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_895692"><div><strong>Peeling skin syndrome 4</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>895692</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.">C4225407</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/895692">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_934583"><div><strong>Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>934583</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.">C4310616</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/934583">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1380593"><div><strong>Erythrokeratodermia variabilis et progressiva 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1380593</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.">C4479619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Erythrokeratodermia variabilis et progressiva is a rare skin disease. Patients with EKVP3 have normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema (summary by Boyden et al., 2015). For a discussion of genetic heterogeneity of EKVP, see EKVP1 (133200).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1380593">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1648406"><div><strong>Peeling skin syndrome 6</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1648406</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.">C4748093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Peeling skin syndrome-6 (PSS6) is characterized by generalized ichthyotic dry skin and bullous peeling lesions on the trunk and limbs at sites of minor trauma. There is residual hyperpigmentation in areas of healing, but no scarring. Skin symptoms are exacerbated by warmth and humidity; however, the disorder improves markedly with age (Bolling et al., 2018; Mohamad et al., 2018). For a discussion of genetic heterogeneity of peeling skin syndrome, see PSS1 (270300).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1648406">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1778121"><div><strong>Olmsted syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1778121</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.">C5542829</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Olmsted syndrome-1 (OLMS1) is a rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma (PPK) and periorificial keratotic plaques with severe pruritus of lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas (summary by Lin et al., 2012). The digital constriction ('pseudoainhum') may progress to autoamputation of fingers and toes (Olmsted, 1927). Genetic Heterogeneity of Olmsted Syndrome Olmsted syndrome-2 (OLMS2; 619208) is caused by mutation in the PERP gene (609301) on chromosome 6q23. An X-linked form of Olmsted syndrome (OLMSX; 300918) is caused by mutation in the MBTPS2 gene (300294) on chromosome Xp22.</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1778121">Condition Record</a></div></div>
|
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<div class="divPopper rprt" id="rdis_1824037"><div><strong>Ichthyosis, annular epidermolytic, 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1824037</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.">C5774264</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Annular epidermolytic ichthyosis-2 (AEI2) is characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Some patients experience intermittent severe flares of generalized annular and polycyclic erythematous scaling plaques (Sybert et al., 1999; Zaki et al., 2018). For a discussion of genetic heterogeneity of AEI, see AEI1 (607602).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1824037">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1845041"><div><strong>Epidermolytic hyperkeratosis 2B, autosomal recessive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1845041</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.">C5882753</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Autosomal recessive epidermolytic hyperkeratosis-2B (EHK2B) is a rare and clinically variable defect of cornification characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases (summary by Terheyden et al., 2009). For a discussion of genetic heterogeneity of epidermolytic hyperkeratosis, see EHK1 (113800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1845041">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334410" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Annular epidermolytic ichthyosis</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_347628" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 5</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_436851" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 6</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_765943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 8</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_767263" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive congenital ichthyosis 9</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (20)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82697" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Child syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_934583" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1845041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epidermolytic hyperkeratosis 2B, autosomal recessive</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1380593" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erythrokeratodermia variabilis et progressiva 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816111" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypopigmentation-punctate palmoplantar keratoderma syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1824037" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ichthyosis, annular epidermolytic, 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_395099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Loricrin keratoderma</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334382" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal ichthyosis-sclerosing cholangitis syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_208666" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Odonto-onycho-dermal dysplasia</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1778121" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Olmsted syndrome 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_895692" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peeling skin syndrome 4</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1648406" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Peeling skin syndrome 6</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_45939" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pityriasis rubra pilaris</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_372099" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Punctate palmoplantar keratoderma type 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816049" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Severe dermatitis-multiple allergies-metabolic wasting syndrome</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/38159213">Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi TP,
|
||
Duvic M</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Mar;25(2):243-259.
|
||
Epub 2023 Dec 30
|
||
doi: 10.1007/s40257-023-00836-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38159213" target="_blank">38159213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29503541">Pivotal role of Acitretin nanovesicular gel for effective treatment of psoriasis: ex vivo-in vivo evaluation study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abu Hashim II,
|
||
Abo El-Magd NF,
|
||
El-Sheakh AR,
|
||
Hamed MF,
|
||
Abd El-Gawad AEH</span><br />
|
||
<span class="medgenPMjournal">Int J Nanomedicine</span>
|
||
2018;13:1059-1079.
|
||
Epub 2018 Feb 20
|
||
doi: 10.2147/IJN.S156412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29503541" target="_blank">29503541</a><a href="/pmc/articles/PMC5824759" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20184391">Pityriasis rubra pilaris: a review of diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Klein A,
|
||
Landthaler M,
|
||
Karrer S</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2010;11(3):157-70.
|
||
doi: 10.2165/11530070-000000000-00000.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20184391" target="_blank">20184391</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22orthokeratosis%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 (7)</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/38159213">Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi TP,
|
||
Duvic M</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Mar;25(2):243-259.
|
||
Epub 2023 Dec 30
|
||
doi: 10.1007/s40257-023-00836-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38159213" target="_blank">38159213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33958516">Hypergranulotic Dyskeratotic Acanthoma: Another Histologically Distinctive Acanthoma.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SH,
|
||
Griffin T,
|
||
McGeehin EL,
|
||
Lee JB</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2021 Dec 1;43(12):921-925.
|
||
doi: 10.1097/DAD.0000000000001966.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33958516" target="_blank">33958516</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31849081">Histopathologic findings characteristic of CARD14-associated papulosquamous eruption.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ring NG,
|
||
Craiglow BG,
|
||
Panse G,
|
||
Antaya RJ,
|
||
Ashack K,
|
||
Ashack R,
|
||
Faith EF,
|
||
Paller AS,
|
||
McNiff JM,
|
||
Choate KA,
|
||
Ko CJ</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2020 May;47(5):425-430.
|
||
Epub 2019 Dec 26
|
||
doi: 10.1111/cup.13633.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31849081" target="_blank">31849081</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22838090">Development of squamous cell carcinoma on an inflammatory linear verrucous epidermal nevus in the genital area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turk BG,
|
||
Ertam I,
|
||
Urkmez A,
|
||
Kazandi A,
|
||
Kandiloglu G,
|
||
Ozdemir F</span><br />
|
||
<span class="medgenPMjournal">Cutis</span>
|
||
2012 Jun;89(6):273-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22838090" target="_blank">22838090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12121556">Prayer marks.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Abanmi AA,
|
||
Al Zouman AY,
|
||
Al Hussaini H,
|
||
Al-Asmari A</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
2002 Jul;41(7):411-4.
|
||
doi: 10.1046/j.1365-4362.2002.01398.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12121556" target="_blank">12121556</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orthokeratosis%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 (28)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38159213">Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi TP,
|
||
Duvic M</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Mar;25(2):243-259.
|
||
Epub 2023 Dec 30
|
||
doi: 10.1007/s40257-023-00836-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38159213" target="_blank">38159213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26990327">Acrokeratoelastoidosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mu EW,
|
||
Mir A,
|
||
Meehan SA,
|
||
Nguyen N</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2015 Dec 16;21(12)
|
||
<span class="bold">PMID: </span><a href="/pubmed/26990327" target="_blank">26990327</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25561208">The many clinico-pathologic faces of actinic keratosis: an atlas.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Massone C,
|
||
Cerroni L</span><br />
|
||
<span class="medgenPMjournal">Curr Probl Dermatol</span>
|
||
2015;46:64-9.
|
||
Epub 2014 Dec 18
|
||
doi: 10.1159/000366538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25561208" target="_blank">25561208</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15748590">Axillary granular parakeratosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srivastava M,
|
||
Cohen D</span><br />
|
||
<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2004 Nov 30;10(3):20.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15748590" target="_blank">15748590</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9703156">Trichilemmal horn: case presentation and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMaio DJ,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1998 Aug;39(2 Pt 2):368-71.
|
||
doi: 10.1016/s0190-9622(98)70393-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9703156" target="_blank">9703156</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orthokeratosis%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 (61)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38661555">Erythrasma of the Vulva: An Invisible Dermatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jobbagy S,
|
||
Laga AC,
|
||
Watkins JC</span><br />
|
||
<span class="medgenPMjournal">Int J Gynecol Pathol</span>
|
||
2025 Jan 1;44(1):15-21.
|
||
Epub 2024 Apr 9
|
||
doi: 10.1097/PGP.0000000000001031.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38661555" target="_blank">38661555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38159213">Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Joshi TP,
|
||
Duvic M</span><br />
|
||
<span class="medgenPMjournal">Am J Clin Dermatol</span>
|
||
2024 Mar;25(2):243-259.
|
||
Epub 2023 Dec 30
|
||
doi: 10.1007/s40257-023-00836-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38159213" target="_blank">38159213</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34289144">IL-36α and IL-36γ expressions in the differential diagnosis of palmoplantar psoriasis and palmoplantar eczema: A retrospective histopathologic and immunohistochemical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdem O,
|
||
Leblebici C,
|
||
Koku Aksu AE,
|
||
Erdil D,
|
||
Kara Polat A,
|
||
Gürel MS</span><br />
|
||
<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2022 Jan;49(1):42-48.
|
||
Epub 2021 Aug 8
|
||
doi: 10.1111/cup.14105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34289144" target="_blank">34289144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30045068">Pityriasis Rubra Pilaris With Extensive Follicular Acantholysis Resembling Pemphigus Vulgaris: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lilo MT,
|
||
Yan S,
|
||
Chapman MS,
|
||
Linos K</span><br />
|
||
<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2019 Jan;41(1):37-39.
|
||
doi: 10.1097/DAD.0000000000001222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30045068" target="_blank">30045068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17062043">Skin capacitance mapping of psoriasis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Xhauflaire-Uhoda E,
|
||
Piérard-Franchimont C,
|
||
Piérard GE</span><br />
|
||
<span class="medgenPMjournal">J Eur Acad Dermatol Venereol</span>
|
||
2006 Nov;20(10):1261-5.
|
||
doi: 10.1111/j.1468-3083.2006.01787.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17062043" target="_blank">17062043</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orthokeratosis%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 (34)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34289144">IL-36α and IL-36γ expressions in the differential diagnosis of palmoplantar psoriasis and palmoplantar eczema: A retrospective histopathologic and immunohistochemical study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Erdem O,
|
||
Leblebici C,
|
||
Koku Aksu AE,
|
||
Erdil D,
|
||
Kara Polat A,
|
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Gürel MS</span><br />
|
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<span class="medgenPMjournal">J Cutan Pathol</span>
|
||
2022 Jan;49(1):42-48.
|
||
Epub 2021 Aug 8
|
||
doi: 10.1111/cup.14105.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34289144" target="_blank">34289144</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30045068">Pityriasis Rubra Pilaris With Extensive Follicular Acantholysis Resembling Pemphigus Vulgaris: A Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lilo MT,
|
||
Yan S,
|
||
Chapman MS,
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Linos K</span><br />
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<span class="medgenPMjournal">Am J Dermatopathol</span>
|
||
2019 Jan;41(1):37-39.
|
||
doi: 10.1097/DAD.0000000000001222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30045068" target="_blank">30045068</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22838090">Development of squamous cell carcinoma on an inflammatory linear verrucous epidermal nevus in the genital area.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Turk BG,
|
||
Ertam I,
|
||
Urkmez A,
|
||
Kazandi A,
|
||
Kandiloglu G,
|
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Ozdemir F</span><br />
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<span class="medgenPMjournal">Cutis</span>
|
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2012 Jun;89(6):273-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22838090" target="_blank">22838090</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18627712">Confluent and reticulate papillomatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu JJ,
|
||
Borazjani BH,
|
||
Benabio JV,
|
||
Jeffes EW 3rd,
|
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Dyson SW</span><br />
|
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<span class="medgenPMjournal">Dermatol Online J</span>
|
||
2008 Mar 15;14(3):10.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18627712" target="_blank">18627712</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7530797">Odontogenic keratocysts: a study of 50 patients.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Anand VK,
|
||
Arrowood JP Jr,
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Krolls SO</span><br />
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<span class="medgenPMjournal">Laryngoscope</span>
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1995 Jan;105(1):14-6.
|
||
doi: 10.1288/00005537-199501000-00006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7530797" target="_blank">7530797</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orthokeratosis%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 (12)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/24079701">Development and characterization of nanocarriers for topical treatment of psoriasis by using combination therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Parnami N,
|
||
Garg T,
|
||
Rath G,
|
||
Goyal AK</span><br />
|
||
<span class="medgenPMjournal">Artif Cells Nanomed Biotechnol</span>
|
||
2014 Dec;42(6):406-12.
|
||
Epub 2013 Oct 1
|
||
doi: 10.3109/21691401.2013.837474.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24079701" target="_blank">24079701</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9989629">An association between autosomal dominant cerebral cavernomas and a distinctive hyperkeratotic cutaneous vascular malformation in 4 families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Labauge P,
|
||
Enjolras O,
|
||
Bonerandi JJ,
|
||
Laberge S,
|
||
Dandurand M,
|
||
Joujoux JM,
|
||
Tournier-Lasserve E</span><br />
|
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<span class="medgenPMjournal">Ann Neurol</span>
|
||
1999 Feb;45(2):250-4.
|
||
doi: 10.1002/1531-8249(199902)45:2<250::aid-ana17>3.0.co;2-v.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9989629" target="_blank">9989629</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9703156">Trichilemmal horn: case presentation and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">DiMaio DJ,
|
||
Cohen PR</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1998 Aug;39(2 Pt 2):368-71.
|
||
doi: 10.1016/s0190-9622(98)70393-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9703156" target="_blank">9703156</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3805380">Kyrle's disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cunningham SR,
|
||
Walsh M,
|
||
Matthews R,
|
||
Fulton R,
|
||
Burrows D</span><br />
|
||
<span class="medgenPMjournal">J Am Acad Dermatol</span>
|
||
1987 Jan;16(1 Pt 1):117-23.
|
||
doi: 10.1016/s0190-9622(87)70011-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3805380" target="_blank">3805380</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3623792">Disseminated spiked hyperkeratosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nedwich JA,
|
||
Sullivan JJ</span><br />
|
||
<span class="medgenPMjournal">Int J Dermatol</span>
|
||
1987 Jul-Aug;26(6):358-61.
|
||
doi: 10.1111/j.1365-4362.1987.tb00559.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3623792" target="_blank">3623792</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orthokeratosis%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 (33)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
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|
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|
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|
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<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1843359%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1843359%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (3)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1843359%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://clinicaltrials.gov/search?cond=Orthokeratosis" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=(%22orthokeratosis%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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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Orthokeratosis" target="_blank">MedlinePlus</a></li></ul></div>
|
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<a href="/pubmed/clinical?term=Orthokeratosis" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Orthokeratosis%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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