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Hermansky-Pudlak Syndrome
Carlos S. Restrepo, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • 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

                                    1. El-Chemaly S et al: Hermansky-Pudlak syndrome. Clin Chest Med. 37(3):505-11, 2016
                                    2. Vicary GW et al: Pulmonary fibrosis in Hermansky-Pudlak syndrome. Ann Am Thorac Soc. 13(10):1839-1846, 2016
                                    3. 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
                                    4. 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
                                    5. 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
                                    6. Berkmen YM et al: Case 124: Hermansky-Pudlak syndrome. Radiology. 245(2):595-9, 2007
                                    7. 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
                                    Related Anatomy
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                                    Related Differential Diagnoses
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                                    References
                                    Tables

                                    Tables

                                    KEY FACTS

                                    • Terminology

                                      • Imaging

                                        • Top Differential Diagnoses

                                          • Pathology

                                            • Clinical Issues

                                              • 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

                                                                      1. El-Chemaly S et al: Hermansky-Pudlak syndrome. Clin Chest Med. 37(3):505-11, 2016
                                                                      2. Vicary GW et al: Pulmonary fibrosis in Hermansky-Pudlak syndrome. Ann Am Thorac Soc. 13(10):1839-1846, 2016
                                                                      3. 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
                                                                      4. 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
                                                                      5. 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
                                                                      6. Berkmen YM et al: Case 124: Hermansky-Pudlak syndrome. Radiology. 245(2):595-9, 2007
                                                                      7. 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