Dermatologic Manifestations of Hermansky-Pudlak Syndrome in Patients With and Without a 16–Base Pair Duplication in the HPS1 Gene

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Abstract
HERMANSKY-PUDLAK syndrome (HPS), an autosomal recessive disorder, consists of oculocutaneous albinism, a platelet storage pool deficiency, and lysosomal accumulation of ceroid lipofuscin.1-3 The oculocutaneous albinism results in variable pigment dilution, congenital nystagmus, a visual acuity approximating 20/200, and marked iris transillumination in the majority of patients. The storage pool deficiency and lack of a secondary platelet aggregation response arise from the absence of platelet dense bodies, diagnosable on wet-mount electron microscopy.4 Patients with HPS generally exhibit easy bruising and epistaxis in childhood, excessive menstrual and postpartum bleeding, and prolonged bleeding during dental extraction and surgical procedures. The accumulation of ceroid lipofuscin is associated with primary pulmonary fibrosis in a large number of patients and with granulomatous colitis in 10% to 20% of patients.5-7 The pulmonary fibrosis usually proves fatal by the fourth or fifth decade.8,9