Sabinas brittle hair syndrome

Overview

A rare inherited disease characterized by brittle hair, mental retardation and fragile nails.

Symptoms

* Intellectual impairment * Decreased fertility * Short stature * Brittle hair * Fragile nails

Diagnosis

Symptoms include brittle hair, mild mental retardation and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico. The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine.

Treatment

Encourage gentle hair care to avoid further hair loss. Also, suggest wearing a wig, cap, or scarf, if appropriate. Remind the patient to cover his head in cold weather to prevent loss of body heat. Encourage patients who are frequently exposed to the sun to use sunblock to decrease the risk of skin cancer.