A Case of Hereditary Epidermolytic Palmoplantar Keratoderma in Four Consecutive Generations / 대한피부과학회지

We observed a family with 12 members in four consecutive generations affected by hereditary epidermolytic palmoplantar keratoderma(HEPPK). The affected family members demonstrated not only autosomal dominant inheritance, but also a high penetrance and constant expression. The lesion of all affected person had developed at birth or within the first few weeks of life. The lesions of three members(the proband, her sister and mother) were biopsed, and all of them showed the characteristic features of epidermolytic hyperkeratosis. Two of family members(the proband, her nephew-not affected by HEPPK) had vitiligo, but we concluded that this coexistance was accidental.