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Vohwinkel syndrome with ichthyosis; Loricrin keratoderma; mutilating keratoderma with ichthyosis
variant of Vohwinkel syndrome with ichthyosis
Genetics:
- associated with defects in LOR
Clinical manifestations:
- progressive symmetric erythrokeratoderma or congenital ichthyosiform erythroderma
- common features include hyperkeratosis of the palms & soles with digital constriction
General
Vohwinkel syndrome
Database Correlations
OMIM 604117
References
UniProt :accession P23490