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MCID: CNG008
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Congenital Ichthyosiform Erythroderma malady |
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Lamellar ichthyosis is a rare genetic skin disorder in which the skin cells are produced at a normal rate, but they do not separate normally at the surface of the skin and are not shed as quickly as they should be; this results in the formation of scales. Lamellar ichthyosis is present at birth; many babies born with the condition are covered with a clear membrane (the collodion) and have skin that can be red or dark, tight and split. The eyelids and lips may be forced open by the tightness of the skin (which may continue into adulthood), and there may be contractures around the fingers. Other signs and symptoms may include problems with temperature regulation, water loss, secondary infections, thickened nails, and hair loss. The condition may be caused by mutations in any of several different genes and is usually inherited in an autosomal recessive manner. Treatment may include moisturizers, keratolytics, and oral synthetic retinoids (in severe cases).30
MalaCards: Congenital Ichthyosiform Erythroderma, also known as nonbullous congenital ichthyosiform erythroderma, is related to epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma. An important gene associated with Congenital Ichthyosiform Erythroderma is KRT1 (keratin 1), and among its related pathways are Cytoskeleton remodeling_Keratin filaments and Cytoskeleton remodeling Keratin filaments. The drugs urea and urea powder [va product] and the compounds 12(r)-hpete and tazarotene have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are mortality/aging and integument. Genetics Home Reference: Lamellar ichthyosis is a condition that mainly affects the skin. Infants with this condition are typically born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life, but remaining effects include scaly skin and outward turning eyelids and lips. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin. Affected individuals may also have hair loss (alopecia), a decreased ability to sweat (hypohidrosis), and a thickening of the skin on the palms of the hands and soles of the feet (keratoderma). Less frequently, affected individuals have reddened skin (erythema) and joint deformities (contractures). Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems.17 Wikipedia: Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform...44 more... OMIM: 242100 |
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Sources: 6Disease Ontology, 30NIH Rare Diseases, 8DISEASES, 7diseasecard, 17Genetics Home Reference, 43UMLS, 33OMIM, 32Novoseek , 40SNOMED-CT, 24MeSH, 27NCIt See all sources |
Aliases & Descriptions:
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 242100
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for congenital ichthyosiform erythroderma Drug clinical trials:Search ClinicalTrials for congenital ichthyosiform erythroderma Search NIH Clinical Center for congenital ichthyosiform erythroderma Search CenterWatch for congenital ichthyosiform erythroderma Inferred drug relations via UMLS/NDF-RT:43 28 carbamide peroxide, eucerin, eucerite, urea, urea powder [va product] |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to congenital ichthyosiform erythroderma:22Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to congenital ichthyosiform erythroderma:25
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Sources: 35PubMed See all sources |
Articles related to congenital ichthyosiform erythroderma:(show all 26)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore See all sources |
Pathways related to congenital ichthyosiform erythroderma according to GeneDecks:
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Sources: 32Novoseek , 18HMDB, 9DrugBank, 42Tocris Bioscience See all sources |
Compounds related to congenital ichthyosiform erythroderma according to GeneDecks:(show all 32)
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Sources: 12Gene Ontology See all sources |
Cellular components related to congenital ichthyosiform erythroderma according to GeneDecks:
Biological processes related to congenital ichthyosiform erythroderma according to GeneDecks:(show all 7)
Molecular functions related to congenital ichthyosiform erythroderma according to GeneDecks:
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