Mesh term Netherton Syndrome
Browse to parent terms:Abnormalities, Multiple
Ichthyosiform Erythroderma, Congenital
Skin Diseases, Genetic
Description
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.Search for this term in our Faculty Database
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