Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.
Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.
D000328:Adult; D000417:Albinism / Q000150:complications* / Q000503:physiopathology; D004596:Electroretinography; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D008297:Male; D008545:Melanoma / Q000150:complications; D008875:Middle Aged; D010641:Phenotype; D012878:Skin Neoplasms / Q000150:complications; D013577:Syndrome