X-linked ichthyosis associated with congenital dislocation of the hip.

A 59-year-old man was referred to us for evaluation of a rough scaly skin and an abnormal gait of undetermined duration. He had been noted at birth to be covered with thick, dark scales over much of his body, and also he had developed displacement of the femoral head out of the right acetabular socket. He had a strong family history of ichthyosis, implying an X-linked feature. No other members of the family were known to have musculoskeletal abnormalities. Initial examination revealed large, thick, ichthyotic scales over much of the body, including the preauricular areas and flexure surfaces of the extremities, with sparing of the palms and soles. When he stood up straight, he had to bend the left knee joint, because of apparent shortening of the right leg (Fig. 1). A shambling gait was evident. There were no accompanying symptoms, such as anosmia, hypogonadism, mental retardation, or short stature. Histopathology of the skin demonstrated hyperkeratosis and a conspicuous granular layer of the epidermis. Roentgenograms of the hip disclosed a marked lateral and upward displacement of the head of the right femur (Fig. 2). The spine revealed scoliosis. Epiphyseal dysplasia was not found. A commercial assay for steroid sulfatase demonstrated a deficient enzyme activity of lymphocytes. We made a diagnosis of X-linked ichthyosis associated with congenital dislocation of the hip. The patient has had no operative therapy to date. Figure 1. Standing pose with the left knee joint bent. Large, thick, ichthyotic scales cover the buttocks and the legs Figure 2. X-ray findings of the hip. A marked displacement of the right femoral head