Hermansky-pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis) 5

General: Autosomal recessive; mostly affects children or yo 424b14e ung adults; tyrosinase-positive oculocutaneous albinism; abnormal platelets; increased ceroid-like material in the reticuloendothelial system.

Ocular: Translucent irides; minimally pigmented ocular fundi; nystagmus; foveal hypoplasia; large refractive errors; strabismus; fundus hypopigmentation.

Clinical: Gingival bleeding; epistaxis; easy bruisability; pale skin; interstitial lung disease; defect in platelet function; 'imperfect' oculocutaneous albinism; restrictive lung disease; ulcerative colitis.

Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow. Report of two cases with histochemical studies. Blood 1959; 14:162.

Kotzot D, et al. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor abnormalities: a new autosomal recessive syndrome? Am J Med Genet 1994; 50:224-227.

Simon JW, et al. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol 1982; 93:71-77.

Summers CG, et al. Hermansky-Pudlak syndrome. Ophthalmology 1988; 95:545-554.

Suzuki T, et al. A girl with Hermansky-Pudlak syndrome. Acta Ophthalmol 1991; 69:256-260.