Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Skin and Connective Tissue Diseases
Skin Diseases
Skin Diseases, Genetic
Ichthyosiform Erythroderma, Congenital
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Genetic Diseases, Inborn
Skin Diseases, Genetic
Ichthyosiform Erythroderma, Congenital
Preferred term
Netherton Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Netherton Disease
Scope note
- Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.
History note
- 2010
In other languages
-
Finnish
-
Netherton
-
Nethertonin syndrooma
-
Nethertonin tauti
-
Swedish
URI
http://www.yso.fi/onto/mesh/D056770
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