Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder.
The Hermansky-Pudlak syndrome is a form of oculocutaneous albinism, characterized by a qualitative platelet defect and deposition of ceroid-like material throughout the reticuloendothelial system. During a 16 month period five patients with Hermansky-Pudlak syndrome presented with symptoms, chest films and pulmonary function studies consistent with restrictive pulmonary disease. In two patients, lung biopsies revealed diffuse interstitial fibrosis. However, light and electron microscopy demonstrated ceroid-like material within alveolar macrophages. In addition, two patients presented with inflammatory bowel disease with deposition of ceroid-like material in the colon. This disorder appears to be more common than is currently recognized and should be considered in the differential diagnosis of diffuse interstitial pulmonary disease and inflammatory bowel disease. A relationship between the deposition of ceroid-like material and pulmonary fibrosis is discussed in light of recent research concerning inflammatory processes. In view of the serious pulmonary, gastrointestinal and hematologic consequences of this syndrome, there is a need for genetic counseling of these patients.
D000328:Adult; D000417:Albinism / Q000175:diagnosis* / Q000235:genetics; D001706:Biopsy; D002566:Ceroid / Q000378:metabolism*; D003092:Colitis / Q000175:diagnosis; D005260:Female; D006474:Hemorrhagic Disorders / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008168:Lung / Q000473:pathology; D008176:Lung Volume Measurements; D008297:Male; D010860:Pigments, Biological / Q000378:metabolism*; D011647:Puerto Rico / Q000208:ethnology; D011658:Pulmonary Fibrosis / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome
D002566:Ceroid; D010860:Pigments, Biological