Catalog

Autosomal recessive epidermolytic ichthyosis

No MMS code

Link to WHO Definition

Autosomal recessive epidermolytic ichthyosis – http://id.who.int/icd/entity/244597687

A rare recessive form of epidermolytic ichthyosis due to a nonsense mutation in the KRT10 gene leading to loss of K10 expression in affected homozygous individuals.