Vohwinkel syndrome with ichthyosis; Loricrin keratoderma; mutilating keratoderma with ichthyosis

Introduction

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

More general terms

• Vohwinkel syndrome

Database

• OMIM: https://mirror.omim.org/entry/604117