Autosomal recessive genetic disorder characterized by
Oculocutaneous albinism (i.e., light pigmentation of skin, hair, and eyes)
Platelet dysfunction (leading to prolonged bleeding and easy bruising)
Pulmonary fibrosis
Granulomatous colitis
IMAGING
Radiographic Findings
CT Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
El-Chemaly S et al: Hermansky-Pudlak syndrome. Clin Chest Med. 37(3):505-11, 2016
Vicary GW et al: Pulmonary fibrosis in Hermansky-Pudlak syndrome. Ann Am Thorac Soc. 13(10):1839-1846, 2016
Bin Saeedan M et al: Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review. Curr Probl Diagn Radiol. 44(4):383-5, 2015
Kelil T et al: Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. J Clin Imaging Sci. 4:59, 2014
Hurford MT et al: Hermansky-pudlak syndrome: report of a case and review of the literature. Int J Clin Exp Pathol. 1(6):550-4, 2008
Berkmen YM et al: Case 124: Hermansky-Pudlak syndrome. Radiology. 245(2):595-9, 2007
Avila NA et al: Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. 179(4):887-92, 2002
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References
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KEY FACTS
Terminology
Imaging
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Diagnostic Checklist
TERMINOLOGY
Abbreviations
Hermansky-Pudlak syndrome (HPS)
Definitions
Autosomal recessive genetic disorder characterized by
Oculocutaneous albinism (i.e., light pigmentation of skin, hair, and eyes)
Platelet dysfunction (leading to prolonged bleeding and easy bruising)
Pulmonary fibrosis
Granulomatous colitis
IMAGING
Radiographic Findings
CT Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Selected References
El-Chemaly S et al: Hermansky-Pudlak syndrome. Clin Chest Med. 37(3):505-11, 2016
Vicary GW et al: Pulmonary fibrosis in Hermansky-Pudlak syndrome. Ann Am Thorac Soc. 13(10):1839-1846, 2016
Bin Saeedan M et al: Hermansky-Pudlak syndrome: high-resolution computed tomography findings and literature review. Curr Probl Diagn Radiol. 44(4):383-5, 2015
Kelil T et al: Hermansky-pudlak syndrome complicated by pulmonary fibrosis: radiologic-pathologic correlation and review of pulmonary complications. J Clin Imaging Sci. 4:59, 2014
Hurford MT et al: Hermansky-pudlak syndrome: report of a case and review of the literature. Int J Clin Exp Pathol. 1(6):550-4, 2008
Berkmen YM et al: Case 124: Hermansky-Pudlak syndrome. Radiology. 245(2):595-9, 2007
Avila NA et al: Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. 179(4):887-92, 2002
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