ichthyosis hystrix of Curth-Macklin

ichthyosis hystrix of Curth-Macklin

An autosomal dominant, non-blistering condition (OMIM:146590), which is similar to epidermolytic hyperkeratosis (NPS-2 type), with grey-brown verrucous hyperkeratosis especially on the extremities.

Molecular pathology
Mutation of KRT1 on chromosome 12q13.13, which encodes a type-II cytokeratin specifically expressed in the spinous and granular layers of the epidermis with keratin family member KRT10.
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