The Hermansky-Pudlak syndrome: radiographic features.
We present the radiologic features of four patients proven to have Hermansky-Pudlak syndrome. All four patients had evidence of pulmonary involvement characterized by a progressive, diffuse, bilateral interstitial fibrosis. Extensive bullous changes were seen in one patient. Two patients with evidence of diffuse colitis exhibited an asymmetrical pattern of focal, superficial, and deep ulcerations similar to that of Crohn's disease. The association of these radiographic abnormalities with albinism, ocular abnormalities, bleeding diathesis, and Puerto Rican ancestry establishes the diagnosis.
D000328:Adult; D000417:Albinism / Q000000981:diagnostic imaging*; D001466:Barium Sulfate; D001791:Blood Platelet Disorders / Q000000981:diagnostic imaging; D003092:Colitis / Q000000981:diagnostic imaging*; D003424:Crohn Disease / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D011658:Pulmonary Fibrosis / Q000000981:diagnostic imaging*; D011859:Radiography; D013577:Syndrome
D001466:Barium Sulfate