Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Ibrahim D, Czarniecki M, et al. Hermansky-Pudlak syndrome. Reference article, Radiopaedia.org (Accessed on 17 Feb 2025) https://doi.org/10.53347/rID-21682
Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:
- oculocutaneous hypopigmentation (albinism)
- platelet dysfunction
- abnormal storage of autofluorescent pigment (ceroid or lipofuscin)
- typically occurs within lysosomal organelles of the cells of multiple organs and the reticuloendothelial system
There is a recognized regional predilection with increased incidence around the Swiss alps region and in Puerto Rico 3.
Genetics
The condition is a genetically transmitted autosomal recessive disorder. At least six distinct genetic forms (HPS1 through HPS6) have been identified resulting in somewhat different clinical manifestations.
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pulmonary fibrosis
- considered a frequent complication
- incidence and severity of fibrosis is greatest in patients with HPS1 and HPS4
- slowly progressive lung fibrosis occurs in individuals aged 20-40 years
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granulomatous colitis
- patients with HPS can occasionally develop granulomatous colitis similar to Crohn disease
- believed to be a result of an accumulation of ceroid or lipofuscin in the bowel wall
- small bowel involvement is only rarely involved
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History and etymology
It was initially described by F Hermansky and P Pudlak in 1959 4.
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Chédiak-Higashi syndrome, similar syndrome but has:
- recurrent childhood infection
- peripheral and central neuropathy
- accelerated phase
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1. Avila NA, Brantly M, Premkumar A et-al. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. 2002;179 (4): 887-92. AJR Am J Roentgenol (full text) - Pubmed citation
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2. Berkmen YM, Dsouza BM. Case 124: Hermansky-Pudlak syndrome. Radiology. 2007;245 (2): 595-9. Radiology (full text) - doi:10.1148/radiol.2452040495 - Pubmed citation
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3. Krisp A, Hoffman R, Happle R et-al. Hermansky-Pudlak syndrome. Eur J Dermatol. 2001;11 (4): 372-3. Pubmed citation
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4. Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 2000;14 (2): 162-9. Pubmed citation
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5. Shimizu K, Matsumoto T, Miura G et-al. Hermansky-Pudlak syndrome with diffuse pulmonary fibrosis: radiologic-pathologic correlation. J Comput Assist Tomogr. 1998;22 (2): 249-51. Pubmed citation
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6. Reynolds SP, Davies BH, Gibbs AR. Diffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings. Thorax. 1994;49 (6): 617-8. Free text at pubmed - Pubmed citation
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7. Sugino K, Gocho K, Kikuchi N et-al. Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky-Pudlak syndrome. Respirol Case Rep. 2016;4 (1): 13-5. doi:10.1002/rcr2.141 - Free text at pubmed - Pubmed citation
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8. El-Chemaly S, Young LR. Hermansky-Pudlak Syndrome. Clin. Chest Med. 2016;37 (3): 505-11. doi:10.1016/j.ccm.2016.04.012 - Free text at pubmed - Pubmed citation
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