The Hermansky-Pudlak syndrome.
Hermansky-Pudlak Syndrome (HPS) is a rare, inheritable disorder characterized by the classic triad of oculo-cutaneous albinism, platelet dysfunction, and ceroid deposition. An associated complication is pulmonary fibrosis with progressive restrictive lung disease. This report discusses the lung involvement often seen in this condition correlated with radiography, computed tomography, high-resolution computed tomography, and the underlying pathology, by means of two such afflicted siblings. The elder died of respiratory failure while awaiting lung transplantation. The younger sibling is currently undergoing evaluation for transplantation.
Parker
M S
MS
University of Texas Southwestern Medical Center at Dallas, Department of Diagnostic Radiology 75235, USA.
Rosado Shipley
W
W
de Christenson
M L
ML
Slutzker
A D
AD
Carroll
F E
FE
Worrell
J A
JA
White
J G
JG
D000328:Adult; D016115:Albinism, Oculocutaneous / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D002566:Ceroid / Q000378:metabolism; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D011658:Pulmonary Fibrosis / Q000150:complications / Q000000981:diagnostic imaging / Q000473:pathology*; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed
D002566:Ceroid