mutilating keratoderma

mu·ti·lat·ing ker·a·to·der·ma

[MIM*124500]
diffuse keratoderma of the extremities, with the development during childhood of constricting fibrous bands around the middle phalanx of the fingers or toes that may lead to spontaneous amputation; there may be congenital deafness; autosomal dominant inheritance, caused by mutation in the gene for loricrin (LOR), a component of the epidermal differentiation complex on 1q.

mu·ti·lat·ing ker·a·to·der·ma

(myū'ti-lāt'ing ker'ă-tō-dĕr'mă)
Diffuse keratoderma of the limbs, with the development during childhood of constricting fibrous bands around the middle phalanges of the fingers or toes that may lead to spontaneous amputation.

Vohwinkel,

H.H., 20th century German dermatologist.
Vohwinkel syndrome - Synonym(s): mutilating keratoderma

Vohwinkel's keratoderma

autosomal-dominant skin condition characterized by honeycomb-like keratoderma formation in infancy; also hearing loss
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References in periodicals archive ?
A missense mutation in connexin 26, DHH6, causes mutilating keratoderma with sensori-neural deafness (Vohwinkel's syndrome) in three unreleated families.