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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

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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