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Dermatologic Manifestations of Hermansky-Pudlak Syndrome Differential Diagnoses

  • Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Feb 05, 2016
 
 
 
Contributor Information and Disclosures
Author

Noah S Scheinfeld, JD, MD, FAAD Assistant Clinical Professor, Department of Dermatology, Weil Cornell Medical College; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, New York Eye and Ear Infirmary; Assistant Attending Dermatologist, New York Presbyterian Hospital; Assistant Attending Dermatologist, Lenox Hill Hospital, North Shore-LIJ Health System; Private Practice

Noah S Scheinfeld, JD, MD, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie<br/>Received income in an amount equal to or greater than $250 from: Optigenex<br/>Received salary from Optigenex for employment.

Coauthor(s)

Ann M Johnson, MD Assistant Professor of Clinical Radiology, University of Pennsylvania School of Medicine; Director, Body MRI, Department of Radiology, Children’s Hospital of Philadelphia

Ann M Johnson, MD is a member of the following medical societies: American Roentgen Ray Society, Radiological Society of North America, Society for Pediatric Radiology, International Society for Magnetic Resonance in Medicine, Society of Computed Body Tomography and Magnetic Resonance

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Acknowledgements

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.

References
  1. Ammann S, Schulz A, Krägeloh-Mann I, Dieckmann NM, Niethammer K, Fuchs S, et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome. Blood. 2016 Jan 7. [Medline].

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

  3. Kurnik K, Bartsch I, Maul-Pavicic A, Ehl S, Sandrock-Lang K, Bidlingmaier C, et al. Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype. Platelets. 2012 Dec 5. [Medline].

  4. Anikster Y, Huizing M, White J, 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].

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

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

  7. Li W, Zhang Q, Oiso N, 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. 2003 Sep. 35(1):84-9. [Medline]. [Full Text].

  8. Falcon-Perez JM, Romero-Calderon 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. 2007 Feb. 8(2):154-68. [Medline].

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

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

  11. Di Pietro SM, Falcon-Perez JM, Tenza D, et al. BLOC-1 interacts with BLOC-2 and the AP-3 complex to facilitate protein trafficking on endosomes. Mol Biol Cell. 2006 Sep. 17(9):4027-38. [Medline].

  12. Sanchez-Guiu I, Torregrosa JM, Velasco F, Anton AI, Lozano ML, Vicente V, et al. Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant. Hamostaseologie. 2014. 34(4):301-9. [Medline].

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

  14. Salazar G, Zlatic S, Craige B, Peden AA, Pohl J, Faundez V. Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells. J Biol Chem. 2009 Jan 16. 284(3):1790-802. [Medline]. [Full Text].

  15. Zhou Y, He CH, Herzog EL, Peng X, Lee CM, Nguyen TH, et al. Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease. J Clin Invest. 2015 Aug 3. 125 (8):3178-92. [Medline].

  16. Torres-Serrant M, Ramirez SI, Cadilla CL, Ramos-Valencia G, Santiago-Borrero PJ. Newborn screening for hermansky-pudlak syndrome type 3 in puerto rico. J Pediatr Hematol Oncol. 2010 Aug. 32(6):448-53. [Medline].

  17. Merideth MA, Vincent LM, Sparks SE, et al. Hermansky-Pudlak syndrome in two African-American brothers. Am J Med Genet A. 2009 May. 149A(5):987-92. [Medline]. [Full Text].

  18. 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].

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

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

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

  22. Lohse J, Gehrisch S, Tauer JT, Knofler R. Therapy refractory menorrhagia as first manifestation of Hermansky-Pudlak syndrome. Hamostaseologie. Nov 2011. 31:Suppl 1:S61-3. [Medline].

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

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

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

  26. Kuratomi G, Saito A, Ozeki Y, Watanabe T, Fujii K, Shimoda K, et al. Association of the Hermansky-Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects. BMC Psychiatry. 2013 Oct. 30:13:276. [Medline].

  27. Weitz N, Patel V, Tlougan B, Mencin A, Kadenhe-Chiweshe A, Morel KD, et al. Metastatic Cutaneous Involvement of Granulomatous Colitis in Hermansky-Pudlak Syndrome. Pediatr Dermatol. 2012 Apr 4. [Medline].

  28. Radke P, Schimmenti LA, Schoonveld C, Bothun ED, Summers CG. The unique association of iris heterochromia with Hermansky-Pudlak syndrome. J AAPOS. 2013 Oct. 17(5):542-4. [Medline].

  29. Young LR, Gulleman PM, Bridges JP, Weaver TE, Deutsch GH, Blackwell TS, et al. The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome. Am J Respir Crit Care Med. 2012 Nov. 186:1014-24. [Medline].

  30. Ozyilmaz E, Gunasti S, Kuyuku Y, Kuleci S, Hanta I, Kocabas A. Hermansky Pudlak Syndrome and Pulmonary Alveolar Proteinosis at the same patient: first case report in the world literature. Sarcoidosis Vasc Diffuse Lung Dis. 2013 Nov. 30(3):217-20. [Medline].

  31. 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. 2002 Oct. 179(4):887-92. [Medline].

  32. 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].

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

  34. 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. 2006 Apr-Jun. 69(2):213-6. [Medline].

  35. Beesley RD, Robinson RD, Stewart TL. Two successful vaginal births after cesarean section in a patient with Hermansky-Pudlak syndrome who was treated with 1-deamino-8-arginine-vasopression during labor. Mil Med. 2008 Oct. 173(10):1048-9. [Medline].

  36. 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. 2005 Jan. 44(1):51-4. [Medline].

  37. Felipez L, Gokhale R, Guandalini S. Hermansky-Pudlak Syndrome: Severe Colitis and Good Response to Infliximab. J Pediatr Gastroenterol Nutr. 2010 Jun 9. [Medline].

  38. O'Brien K, Troendle J, Gochuico BR, et al. Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis. Mol Genet Metab. 2011 Jun. 103(2):128-34. [Medline].

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

  40. Kanazu M, Arai T, Sugimoto C, Kitaichi M, Akira M, Abe Y, et al. An intractable case of Hermansky-Pudlak syndrome. Intern Med. 2014;. 53(22):2629-34. [Medline].

  41. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2. 2:43. [Medline].

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Photo showing light brown eyes and a red reflection in the eyes.
The face of a Puerto Rican girl with Hermansky-Pudlak syndrome. Note the blond hair and the pale skin.
 
 
 
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