Hermansky-Pudlak Syndrome Questions & Answers

1. Carter BW. Hermansky-Pudlak syndrome complicated by pulmonary fibrosis. Proc (Bayl Univ Med Cent). 2012 Jan. 25(1):76-7. [Medline]. [Full Text].

2. Walker M, Payne J, Wagner B, Vora A. Hermansky-Pudlak syndrome. Br J Haematol. 2007 Sep. 138(6):671. [Medline].

3. Vincent LM, Adams D, Hess RA, et al. Hermansky-Pudlak syndrome type 1 in patients of Indian descent. Mol Genet Metab. 2009 Jul. 97(3):227-33. [Medline]. [Full Text].

4. Spencer J, Rosengren S. Hermansky-Pudlak syndrome in pregnancy. Am J Perinatol. 2009 Oct. 26(9):617-9. [Medline].

5. Hurford MT, Sebastiano C. Hermansky-pudlak syndrome: report of a case and review of the literature. Int J Clin Exp Pathol. 2008 Jan 1. 1(6):550-4. [Medline]. [Full Text].

6. Suzuki T, Tomita Y. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci. 2008 Jul. 51(1):1-9. [Medline].

7. Dennis MK, Delevoye C, Acosta-Ruiz A, Hurbain I, Romao M, Hesketh GG, et al. BLOC-1 and BLOC-3 regulate VAMP7 cycling to and from melanosomes via distinct tubular transport carriers. J Cell Biol. 2016 Aug 1. 214(3):293-308. [Medline]. [Full Text].

8. Carmona-Rivera C, Golas G, Hess RA, et al. Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent. J Invest Dermatol. 2011 Dec. 131(12):2394-400. [Medline]. [Full Text].

9. Witkop CJ, Nunez Babcock M, Rao GH, et al. Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Bol Asoc Med P R. 1990 Aug. 82(8):333-9. [Medline].

10. Gradstein L, FitzGibbon EJ, Tsilou ET, Rubin BI, Huizing M, Gahl WA. Eye movement abnormalities in hermansky-pudlak syndrome. J AAPOS. 2005 Aug. 9(4):369-78. [Medline].

11. Tang J, Tsilou E, Caruso RC, Rubin B, Gahl WA. Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome. Retina. 2005 Jan. 25(1):99-100. [Medline].

12. Chong GT, Farsiu S, Freedman SF, et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol. 2009 Jan. 127(1):37-44. [Medline].

13. Echenique I, Garcia Gonzralez JM, Echenique IA, et al. Hermansky Pudlak syndrome: an unusual form of procto-colitis. Bol Asoc Med P R. 2008 Jan-Mar. 100(1):76-9. [Medline].

14. Lee AC, Poon KH, Lo WH, Wong LG. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol. 2008 May 14. 14(18):2939-41. [Medline].

15. Kouklakis G, Efremidou EI, Papageorgiou MS, Pavlidou E, Manolas KJ, Liratzopoulos N. Complicated Crohn's-like colitis, associated with Hermansky-Pudlak syndrome, treated with Infliximab: a case report and brief review of the literature. J Med Case Rep. 2007 Dec 8. 1:176. [Medline]. [Full Text].

16. Lee AC, Poon KH, Lo WH, Wong LG. Chronic ulcerative gastroduodenitis as a first gastrointestinal manifestation of Hermansky-Pudlak syndrome in a 10-year-old child. World J Gastroenterol. 2008 May 14. 14(18):2939-41. [Medline].

17. Fukai K, Oh J, Frenk E, Almodovar C, Spritz RA. Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet. 1995 Sep. 4(9):1665-9. [Medline].

18. Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001 Aug. 28(4):376-80. [Medline].

19. Bailin T, Oh J, Feng GH, Fukai K, Spritz RA. Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol. 1997 Jun. 108(6):923-7. [Medline].

20. Jones ML, Murden SL, Bem D, et al. Rapid genetic diagnosis of heritable platelet function disorders with next-generation sequencing: proof-of-principle with Hermansky-Pudlak syndrome. J Thromb Haemost. 2012 Feb. 10(2):306-9. [Medline].

21. Summer R, Krishna R, Schriner D, Cuevas-Mora K, Sales D, Para R, et al. Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome. Orphanet J Rare Dis. 2019 Jul 4. 14 (1):162. [Medline].

22. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA. Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest. 2000 Jan. 117(1):129-36. [Medline].

23. Demirtas CO, Alahdab YO, Kani HT, Atug O, Imeryuz N. Treatment of Hermansky-Pudlak syndrome Associated granulomatous colitis with anti-TNF agents: case series and review of literature. Eur J Gastroenterol Hepatol. 2019 Dec. 31 (12):1597-1600. [Medline].

24. DellAngelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS. Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell. 1999 Jan. 3(1):11-21. [Medline].

25. Hazelwood S, Shotelersuk V, Wildenberg SC, et al. Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome. Am J Hum Genet. 1997 Nov. 61(5):1088-94. [Medline]. [Full Text].

26. Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Ophthalmology. 2000 Apr. 107(4):783-9. [Medline].

27. Izquierdo NJ, Townsend W, Hussels IE. Ocular findings in the Hermansky-Pudlak syndrome. Trans Am Ophthalmol Soc. 1995. 93:191-200; discussion 200-2. [Medline].

28. Oh J, Bailin T, Fukai K. Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet. 1996 Nov. 14(3):300-6. [Medline].

29. Ray A, Ray S, Matthew JJ. Case Report : Hermansky Pudlak Syndrome (Presenting as late onset heavy Menstrual Bleeding). J Clin Diagn Res. September 2013. 7(9):2023-4. [Medline].

30. Reynolds SP, Davies BH, Gibbs AR. Diffuse pulmonary fibrosis and the Hermansky-Pudlak syndrome: clinical course and postmortem findings. Thorax. 1994 Jun. 49(6):617-8. [Medline].

31. Schachne JP, Glaser N, Lee SH, Kress Y, Fisher M. Hermansky-Pudlak syndrome: case report and clinicopathologic review. J Am Acad Dermatol. 1990 May. 22(5 Pt 2):926-32. [Medline].

32. Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980 Jan. 92(1):20-3. [Medline].

33. Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Am J Ophthalmol. 1982 Jan. 93(1):71-7. [Medline].

34. Summers CG, Knobloch WH, Witkop CJ Jr, King RA. Hermansky-Pudlak syndrome. Ophthalmic findings. Ophthalmology. 1988 Apr. 95(4):545-54. [Medline].

35. Toro J, Turner M, Gahl WA. Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene. Arch Dermatol. 1999 Jul. 135(7):774-80. [Medline].

36. Van Dorp DB, Wijermans PW, Meire F, Vrensen G. The Hermansky-Pudlak syndrome. Variable reaction to 1-desamino-8D-arginine vasopressin for correction of the bleeding time. Ophthalmic Paediatr Genet. 1990 Sep. 11(3):237-44. [Medline].

37. Wenham M, Grieve S, Cummins M, Jones ML, Booth S, Kilner R, et al. Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1. Haematologica. 2010 Feb. 95(2):333-7. [Medline]. [Full Text].

38. Van Avermaete F, Muys J, Jacquemyn Y. Management of Hermansky-Pudlak syndrome in pregnancy and review of literature. BMJ Case Rep. 2016 Nov 17. 2016:[Medline].

39. Abdullah N, Davis NF, Quinn J, Mohan P. Living donor renal transplant in a patient with end-stage renal disease due to Hermansky-Pudlak syndrome. BMJ Case Rep. 2018 Oct 12. 2018:[Medline].

40. O'Brien KJ, Introne WJ, Akal O, Akal T, Barbu A, McGowan MP, et al. Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab. 2018 Sep. 125 (1-2):168-173. [Medline].

Natalio J Izquierdo, MD Associate Professor, Medical Sciences Campus, University of Puerto Rico School of Medicine

Natalio J Izquierdo, MD is a member of the following medical societies: American Academy of Ophthalmology, Puerto Rico Medical Association, Pan-American Association of Ophthalmology, International Society for Genetic Eye Diseases and Retinoblastoma, Sociedad Puertorriquena de Oftalmologia

Disclosure: Nothing to disclose.

William Townsend, MD Professor of Ophthalmology, Medical Sciences Campus, University of Puerto Rico School of Medicine

William Townsend, MD is a member of the following medical societies: American Academy of Ophthalmology, American Ophthalmological Society

Disclosure: Nothing to disclose.

Simon K Law, MD, PharmD Clinical Professor of Health Sciences, Department of Ophthalmology, Jules Stein Eye Institute, University of California, Los Angeles, David Geffen School of Medicine

Simon K Law, MD, PharmD is a member of the following medical societies: American Academy of Ophthalmology, Association for Research in Vision and Ophthalmology, American Glaucoma Society

Disclosure: Nothing to disclose.

Hampton Roy, Sr, MD Associate Clinical Professor, Department of Ophthalmology, University of Arkansas for Medical Sciences

Hampton Roy, Sr, MD is a member of the following medical societies: American Academy of Ophthalmology, American College of Surgeons, Pan-American Association of Ophthalmology

Disclosure: Nothing to disclose.

Andrew W Lawton, MD Neuro-Ophthalmology, Ochsner Health Services

Andrew W Lawton, MD is a member of the following medical societies: American Academy of Ophthalmology, Arkansas Medical Society, Southern Medical Association

Disclosure: Nothing to disclose.

Brian R Younge, MD Professor of Ophthalmology, Mayo Clinic School of Medicine

Brian R Younge, MD is a member of the following medical societies: American Medical Association, American Ophthalmological Society, and North American Neuro-Ophthalmology Society

Disclosure: Nothing to disclose.

• Print this section
• Print the entire contents of
• Print the entire contents of article