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Medical Term:

mutilating keratoderma

Definition

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.

Synonym(s): keratoma hereditarium mutilans, Vohwinkel syndrome

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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