Erythrokeratodermia variabilis: A case report

Abstract

A case of erythrokeratodermia variabilis (EKV) in a 9-year-old black girl is presented. The skin lesions first appeared at three months of age as an erythematous patch on the upper inner thigh. Later, scaling hyperkeratotic plaques on erythematous bases with well-demarcated and hyperpigmented borders appeared on her trunk, face, and upper abdomen. According to the child's parents and to the child herself the lesions changed their shape and distribution over minutes, hours and days and were exacerbated by external factors and emotional stress. Palmar and plantar keratoderma was present. The patient was otherwise normal and was the only child of apparently healthy parents. A punch biopsy showed basket-weave hyperkeratosis, with papillomatosis and acanthosis and these findings were consistent with the diagnosis of EKV. The patient was treated with isotretinoin 10 mg/day and topically with 2.5% hydrocortisone cream and 12% lactic acid lotion. There was some improvement at a three-month follow-up. In the majority of cases, EKV is inherited as an autosomal dominant trait. Because of the apparent absence of clinical symptoms in the patient's relatives, the disease in our case could be sporadic, or, alternatively, due to incomplete gene penetrance.