Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant disorder with highly variable expressivity. The condition usually appears postnatally between 3 months and 3 years of age or, rarely, at birth or in early adult life. EKV is characterized by two distinct morphologic features: erythematous patches and hyperkeratotic plaques. The erythematous patches usually consist of bright red to brownish well demarcated lesions that frequently vary in shape, size, and severity and change their location or involutes completely within hours or days. The hyperkeratotic plaques that are usually fixed in location are yellow-brown with greasy scales and are often polycyclic in shape. The distribution is symmetrical with a predilection of extensor surfaces of the limbs, axilla, buttocks, groin, and face. Palmoplantar keratoderma may be seen in some patients. Mucous membranes, hair, and nails are spared.
Exacerbations of the disease have been seen during pregnancy or with use of oral contraceptive pills. Usually there will be an improvement with age, particularly after menopause.
The inheritance pattern of EKV is autosomal dominant with considerable variability of expression among family members. The gene is mapped to chromosome 1p34.3, a region that has been found to house GJB3 (connexin 31, Cx31) that encodes for a gap junction protein. Recently, a possible autosomal recessive variant of EKV has also been reported.
Galadarai and Galadari (2004) described a 4-year-old female with a history of erythematous skin lesions on her face, extremities, forearms, and joints that started a few months after birth and the condition progressed over a period of time. Some lesions showed variable exacerbations and remissions. Her parents were healthy cousins. There was no family history of a similar problem, although her older brother showed marginal hair loss without any skin lesions. The hair showed normal appearance, but there was no hair growth on the margins of the scalp. History and physical examination revealed erythematous, hyperkeratotic patches with sharply demarcated borders, and a diagnosis of erythrokeratodermia variabilis was made. As the patient was only 4 years old, the treatment provided involved emollients only with not much improvement.