Case study: erythrokeratodermia variabilis

A 4-year-old girl presented to the dermatology clinic with complaints of erythematous skin lesions on her face, extremities,forearms, and joints. The patient was a product of a full-term, normal pregnancy and delivery and was born to healthy parents. The parents are cousins. The condition started a few months after birth with small, hyperkeratotic patches on her cheeks. These lesions did not respond to the treatment that was given. The condition progressed and a few months later similar skin lesions started to appear on her forearms and knees. Different types of treatment, such as topical antibiotics,emollients, topical steroids, and systemic antihistamines, have been tried without any benefit. Some lesions showed variable exacerbations and remissions. There was no family history of a similar problem, although her older brother showed marginal hair loss without any skin lesions. On physical examination (Figures 1-3), hyperkeratotic erythrodermic plaques of variable thickness with sharply demarcated borders were seen on cheeks, extensor surfaces of forearms, and on the knees. The palms,soles, nails, and teeth were normal. The hair showed normal appearance, but there was no hair growth on the margins of the scalp. The laboratory investigations showed normal complete blood count and normal serum zinc and ferritin levels. Urine microscopy and examination was normal. Skin biopsy was taken and histopathology showed nonspecific features of hyperkeratosis with moderate papillomatosis and acanthosis (Figure 4). A diagnosis of erythrokeratodermia variabilis was made and the patient was started on emollients as treatment. There was not much improvement with the treatment.