Hermansky-Pudlak Syndrome: Multimedia

References

1. Badolato R, Parolini S. Novel insights from adaptor protein 3 complex deficiency. J Allergy Clin Immunol. Oct 2007;120(4):735-41; quiz 742-3. [Medline].

2. 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. Aug 2001;28(4):376-80. [Medline].

3. Helip-Wooley A, Westbroek W, Dorward HM, Koshoffer A, Huizing M, Boissy RE, et al. Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5. J Invest Dermatol. Jun 2007;127(6):1471-8. [Medline].

4. Syrzycka M, McEachern LA, Kinneard J, Prabhu K, Fitzpatrick K, Schulze S, et al. The pink gene encodes the Drosophila orthologue of the human Hermansky-Pudlak syndrome 5 (HPS5) gene. Genome. Jun 2007;50(6):548-56. [Medline].

5. Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. Sep 2003;35(1):84-9. [Medline].

6. Falcón-Pérez JM, Romero-Calderón R, Brooks ES, Krantz DE, Dell'Angelica EC. The Drosophila pigmentation gene pink (p) encodes a homologue of human Hermansky-Pudlak syndrome 5 (HPS5). Traffic. Feb 2007;8(2):154-68. [Medline].

7. Nguyen T, Wei ML. Hermansky-Pudlak HPS1/pale ear gene regulates epidermal and dermal melanocyte development. J Invest Dermatol. Feb 2007;127(2):421-8. [Medline].

8. Morgan NV, Pasha S, Johnson CA, Ainsworth JR, Eady RA, Dawood B, et al. A germline mutation in BLOC1S3/reduced pigmentation causes a novel variant of Hermansky-Pudlak syndrome (HPS8). Am J Hum Genet. Jan 2006;78(1):160-6. [Medline].

9. Di Pietro SM, Falcón-Pérez JM, Tenza D, Setty SR, Marks MS, Raposo G, et al. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. Sep 2006;17(9):4027-38. [Medline].

10. Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood. Jul 1 2006;108(1):362-9. [Medline].

11. Grucela AL, Patel P, Goldstein E, Palmon R, Sachar DB, Steinhagen RM. Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome. Am J Gastroenterol. Sep 2006;101(9):2090-5. [Medline].

12. Hazzan D, Seward S, Stock H, Zisman S, Gabriel K, Harpaz N, et al. Crohn's-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome. Colorectal Dis. Sep 2006;8(7):539-43. [Medline].

13. Thomas de Montpréville V, Mussot S, Dulmet E, Dartevelle P. [Pulmonary fibrosis in Hermansky-Pudlak syndrome is not fully usual]. Ann Pathol. Dec 2006;26(6):445-9. [Medline].

14. Iannello S, Fabbri G, Bosco P, Cavaleri A, Cantarella S, Camuto M, et al. A clinical variant of familial Hermansky-Pudlak syndrome. MedGenMed. Jan 27 2003;5(1):3. [Medline].

15. Enders A, Zieger B, Schwarz K, Yoshimi A, Speckmann C, Knoepfle EM, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood. Jul 1 2006;108(1):81-7. [Medline].

16. Avila NA, Brantly M, Premkumar A, Huizing M, Dwyer A, Gahl WA. Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies. AJR Am J Roentgenol. Oct 2002;179(4):887-92. [Medline].

17. 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. Jan 2000;117(1):129-36. [Medline].

18. Izquierdo NJ, Emanuelli A, Izquierdo JC, García M, Cadilla C, Berrocal MH. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. Nov-Dec 2007;27(9):1227-30. [Medline].

19. Erzin Y, Cosgun S, Dobrucali A, Tasyurekli M, Erdamar S, Tuncer M. Complicated granulomatous colitis in a patient with Hermansky-Pudlak syndrome, successfully treated with infliximab. Acta Gastroenterol Belg. Apr-Jun 2006;69(2):213-6. [Medline].

20. Cordova A, Barrios NJ, Ortiz I, Rivera E, Cadilla C, Santiago-Borrero PJ. Poor response to desmopressin acetate (DDAVP) in children with Hermansky-Pudlak syndrome. Pediatr Blood Cancer. Jan 2005;44(1):51-4. [Medline].

21. Feliciano NZ, Rivera E, Agrait E, Rodriguez K. Hermansky-Pudlak syndrome: dental management considerations. J Dent Child (Chic). Jan-Apr 2006;73(1):51-6. [Medline].

22. Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43. [Medline].

23. Bahadori R, Rinner O, Schonthaler HB, Biehlmaier O, Makhankov YV, Rao P, et al. The Zebrafish fade out mutant: a novel genetic model for Hermansky-Pudlak syndrome. Invest Ophthalmol Vis Sci. Oct 2006;47(10):4523-31. [Medline].

24. Boissy RE, Richmond B, Huizing M, Helip-Wooley A, Zhao Y, Koshoffer A, et al. Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3. Am J Pathol. Jan 2005;166(1):231-40. [Medline].

25. Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem. May 30 2003;278(22):20332-7. [Medline].

26. Davies BH, Tuddenham EG. Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. Q J Med. Apr 1976;45(178):219-32. [Medline].

27. Di Pietro SM, Falcón-Pérez JM, Dell'Angelica EC. Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6. Traffic. Apr 2004;5(4):276-83. [Medline].

28. Dimson O, Drolet BA, Esterly NB. Hermansky-Pudlak syndrome. Pediatr Dermatol. Nov-Dec 1999;16(6):475-7. [Medline].

29. Feng L, Novak EK, Hartnell LM, Bonifacino JS, Collinson LM, Swank RT. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS2 genes independently contribute to the production and function of platelet dense granules, melanosomes, and lysosomes. Blood. Mar 1 2002;99(5):1651-8. [Medline].

30. Gwynn B, Martina JA, Bonifacino JS, Sviderskaya EV, Lamoreux ML, Bennett DC, et al. Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood. Nov 15 2004;104(10):3181-9. [Medline].

31. Hermos CR, Huizing M, Kaiser-Kupfer MI, Gahl WA. Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases. Hum Mutat. Dec 2002;20(6):482. [Medline].

32. Huizing M, Gahl WA. Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes. Curr Mol Med. Aug 2002;2(5):451-67. [Medline].

33. Huizing M, Parkes JM, Helip-Wooley A, White JG, Gahl WA. Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome. Platelets. Mar 2007;18(2):150-7. [Medline].

34. Husain S, Marsh E, Saenz-Santamaria MC, McNutt NS. Hermansky-Pudlak syndrome: report of a case with histological, immunohistochemical and ultrastructural findings. J Cutan Pathol. Aug 1998;25(7):380-5. [Medline].

35. Krisp A, Hoffman R, Happle R, König A, Freyschmidt-Paul P. Hermansky-Pudlak syndrome. Eur J Dermatol. Jul-Aug 2001;11(4):372-3. [Medline].

36. Li W, Feng Y, Hao C, Guo X, Cui Y, He M. The BLOC interactomes form a network in endosomal transport. J Genet Genomics. Aug 2007;34(8):669-82. [Medline].

37. Richmond B, Huizing M, Knapp J, Koshoffer A, Zhao Y, Gahl WA, et al. Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking. J Invest Dermatol. Feb 2005;124(2):420-7. [Medline].

38. Schallreuter KU, Frenk E, Wolfe LS, Witkop CJ, Wood JM. Hermansky-Pudlak syndrome in a Swiss population. Dermatology. 1993;187(4):248-56. [Medline].

39. Schreyer-Shafir N, Huizing M, Anikster Y, Nusinker Z, Bejarano-Achache I, Maftzir G, et al. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Hum Mutat. Nov 2006;27(11):1158. [Medline].

40. Setty SR, Tenza D, Truschel ST, Chou E, Sviderskaya EV, Theos AC, et al. BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles. Mol Biol Cell. Mar 2007;18(3):768-80. [Medline].

41. Smith JW, Koshoffer A, Morris RE, Boissy RE. Membranous complexes characteristic of melanocytes derived from patients with Hermansky-Pudlak syndrome type 1 are macroautophagosomal entities of the lysosomal compartment. Pigment Cell Res. Dec 2005;18(6):417-26. [Medline].

42. Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, et al. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. Mar 2002;30(3):321-4. [Medline].

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

44. Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. Nov 15 2004;131C(1):75-81. [Medline].

45. 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. Jul 1999;135(7):774-80. [Medline].

46. Vanhooteghem O, Courtens W, Andre J, Sass U, Song M. Hermansky-Pudlak syndrome: a case report and discussion. Pediatr Dermatol. Sep-Oct 1998;15(5):374-7. [Medline].

47. Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. Feb 2003;33(2):145-53. [Medline].

Further Reading

Keywords

Hermansky-Pudlack syndrome, HPS, oculocutaneous albinism, lysosomal ceroid storage

Contributor Information and Disclosures

Author

Noah S Scheinfeld, MD, JD, FAAD, Assistant Clinical Professor, Department of Dermatology, Columbia University; Consulting Staff, Department of Dermatology, New York Medical College-Metropolitan Hospital; Private Practice
Noah S Scheinfeld, MD, JD, FAAD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Coauthor(s)

Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Disclosure: Nothing to disclose.

Medical Editor

Smeena Khan, MD, Private Practice, Adult and Pediatric Dermatology Associates
Smeena Khan, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Director, Division of Dermatology, Scott and White Clinic; Director Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: 3M Pharmaceutical Grant/research funds Other; Graceway Pharmaceuticals Grant/research funds Other

Managing Editor

Jeffrey J Miller, MD, Associate Professor, Department of Dermatology, Penn State University, Milton S Hershey Medical Center
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.