Hermansky-Pudlak syndrome, an autosomal recessive disease most prevalent in Puerto Rican patients, consists of the triad of albinism, hemorrhagic diathesis caused by abnormal platelet function, and pigmented reticuloendothelial cells. l'5 Granulomatous colitis has been described in adults with HPS. In this report, we describe two young children (one Puerto Rican) with granulomatous colitis complicating HPS.

CASE REPORTS Patient 1. Patient 1, a 7-year-old Puerto Rican girl with HPS, was admitted to North Shore University Hospital in September 1979. Six months previously she had had abdominal pain and distension and severe constipation. Her parents reported that she was passing pencil-thin stools and was having pain with defecation. She appeared well developed and well nourished and was in no acute distress. Her hair was pale blond and her skin was very white. Her irides were pink and horizontal nystagmus was present. A red reflex and photophobia were noted. The abdomen was soft and nontender, with a large amount of stool palpable in the left lower quadrant. Auscultation of the heart revealed a grade 2/6 systolic murmur heard best at the upper left sternal border. The perianal skin was markedly thickened, hypertrophied, and erythematous.