[Hermansky-Pudlak syndrome. Apropos of a case].
A new case of Hermansky-Pudlak syndrome is reported. Clinical, ophthalmological, hematological and dermatological explorations are all described in detail, with emphasis placed on the risks of non-recognition of the syndrome. The ocular albinism is associated with a cutaneous syndrome of highly variable expression and a thrombopathy generally without frank clinical consequence. The quasi spontaneous meningeal hemorrhage noted in this case is unusual. Literature data on this syndrome is reviewed and its main features are described.
D000417:Albinism / Q000150:complications* / Q000175:diagnosis; D001780:Blood Coagulation Tests; D001853:Bone Marrow / Q000648:ultrastructure; D001854:Bone Marrow Cells; D006474:Hemorrhagic Disorders / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome
Le syndrome d'Hermansky-Pudlak. A propos d'un cas.