Familial rolled and spiral hairs with palmoplantar keratoderma

A 59-year-old man with palmoplantar keratoderma and rolled spiral hairs on the abdomen and extremities is reported. His father had the same skin manifestations but his brother and sister only keratoderma palmoplantare. Scanning electron microscopy of the rolled hairs showed that they were coiled in a spiral around their own axis. These spiral hairs had lower cysteine than the normal appearing hairs on the body. The scalp hair appeared normal but was low in cysteine which was compensated by an increase in threonine. Urine analysis showed a decrease of cysteine.