Vohwinkel syndrome with ichthyosis

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Vohwinkel syndrome with ichthyosis2016-11-28T12:36:55+00:00

Vohwinkel syndrome with ichthyosis

DERMATOLOGY

Definition An ichthyotic variant (OMIM:604117) of Vohwinkel syndrome characterised by progressive symmetric erythrokeratoderma (or congenital ichthyosiform erythroderma/collodion baby), palmoplantar hyperkeratosis, and digital constriction, variably accompanied by deafness. 

Molecular pathology Defects of LOR, which encodes loricrin, a major protein component of the cornified cell envelope found in terminally differentiated epidermal cells, cause Vohwinkel syndrome with ichthyosis.  

Synonyms Loricrin keratoderma, mutilating keratoderma with ichthyosis, Vohwinkel syndrome—variant form

References http://www.uniprot.org/uniprot/P23490

http://www.omim.org/entry/604117

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