Congenital Ichthyosiform Erythroderma malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases
Aliases & Descriptions for Congenital Ichthyosiform Erythroderma:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Neonatal; Age of death: early childhood
Global: Genetic diseases, Rare diseases
Anatomical: Eye diseases, Skin diseases
ICD10: 29 28
Genetics Home Reference:24 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 usually dries and peels off during the first few weeks of life, and then it becomes obvious that affected babies have scaly skin, and eyelids and lips that are turned outward. People with lamellar ichthyosis typically have large, dark, plate-like scales covering their skin on most of their body. Infants with lamellar ichthyosis may develop infections, an excessive loss of fluids (dehydration), and respiratory problems. Affected individuals may also have hair loss (alopecia), abnormally formed fingernails and toenails (nail dystrophy), a decreased ability to sweat (hypohidrosis), an increased sensitivity to heat, 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).
MalaCards based summary: Congenital Ichthyosiform Erythroderma, also known as lamellar ichthyosis, is related to ichthyosis vulgaris and ichthyosis, autosomal recessive 4b, and has symptoms including abnormality of the eyelid, dry skin and hyperkeratosis. An important gene associated with Congenital Ichthyosiform Erythroderma is TGM1 (Transglutaminase 1), and among its related pathways is Prostaglandin 2 biosynthesis and metabolism FM. Affiliated tissues include skin, eye and testes, and related mouse phenotype integument.
NIH Rare Diseases:46 Nonbullous congenital ichthyosiform erythroderma (nbcie) is a specific type of ichthyosis mainly affecting the skin. most infants with nbcie are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). some people with nbcie also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). nbcie may be caused by mutations in any one of at least three genes: alox12b, aloxe3 or nipal4. in some people with nbcie, the cause of the disorder is unknown. last updated: 10/7/2011
Wikipedia:69 Congenital Ichthyosiform Erythroderma (CIE), also known as Nonbullous congenital ichthyosiform... more...
Symptoms:52 (show all 22)
HPO human phenotypes related to Congenital Ichthyosiform Erythroderma:(show all 20)
Drugs for Congenital Ichthyosiform Erythroderma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:(show all 19)
Search NIH Clinical Center for Congenital Ichthyosiform Erythroderma
MalaCards organs/tissues related to Congenital Ichthyosiform Erythroderma:34
Skin, Eye, Testes, Kidney
Articles related to Congenital Ichthyosiform Erythroderma:(show top 50) (show all 114)
Search GEO for disease gene expression data for Congenital Ichthyosiform Erythroderma.
Cellular components related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:
Biological processes related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:(show all 10)
Molecular functions related to Congenital Ichthyosiform Erythroderma according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet