Dermatologic Manifestations of Hermansky-Pudlak Syndrome Differential Diagnoses

1. El-Chemaly S, Young LR. Hermansky-Pudlak Syndrome. Clin Chest Med. 2016 Sep. 37 (3):505-11. [QxMD MEDLINE Link]. [Full Text].

2. 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. [QxMD MEDLINE Link].

3. 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. [QxMD MEDLINE Link].

4. 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. [QxMD MEDLINE Link].

5. 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. [QxMD MEDLINE Link].

6. 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. [QxMD MEDLINE Link].

7. 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. [QxMD MEDLINE Link].

8. 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. [QxMD MEDLINE Link].

9. 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. [QxMD MEDLINE Link]. [Full Text].

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. [QxMD MEDLINE Link].

11. Stearman RS, Cornelius AR, Young LR, Conklin DS, Mickler EA, Lu X, et al. Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context. Am J Respir Crit Care Med. 2019 Jul 15. 200 (2):253-256. [QxMD MEDLINE Link].

12. Dell'Acqua F, Saettini F, Castelli I, Badolato R, Notarangelo LD, Rizzari C. Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature. J Allergy Clin Immunol Pract. 2019 Apr 8. [QxMD MEDLINE Link].

13. 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. [QxMD MEDLINE Link].

14. 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. [QxMD MEDLINE Link].

15. 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. [QxMD MEDLINE Link].

16. 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. [QxMD MEDLINE Link]. [Full Text].

17. 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. [QxMD MEDLINE Link].

18. 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. [QxMD MEDLINE Link].

19. 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. [QxMD MEDLINE Link]. [Full Text].

20. 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. [QxMD MEDLINE Link]. [Full Text].

21. 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. [QxMD MEDLINE Link].

22. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2. 2:43. [QxMD MEDLINE Link].

23. 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. [QxMD MEDLINE Link].

24. 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. [QxMD MEDLINE Link].

25. Vicary GW, Vergne Y, Santiago-Cornier A, Young LR, Roman J. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Ann Am Thorac Soc. 2016 Oct. 13 (10):1839-1846. [QxMD MEDLINE Link]. [Full Text].

26. 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. [QxMD MEDLINE Link].

27. 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. [QxMD MEDLINE Link].

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

29. 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. [QxMD MEDLINE Link].

30. 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. [QxMD MEDLINE Link].

31. 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. [QxMD MEDLINE Link].

32. 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. [QxMD MEDLINE Link].

33. Jardón J, Izquierdo NJ, Renta JY, García-Rodríguez O, Cadilla CL. Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). Ophthalmic Genet. 2016. 37 (1):89-94. [QxMD MEDLINE Link]. [Full Text].

34. 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. [QxMD MEDLINE Link].

35. 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. [QxMD MEDLINE Link].

36. 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. [QxMD MEDLINE Link].

37. 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. [QxMD MEDLINE Link].

38. 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. [QxMD MEDLINE Link].

39. 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. [QxMD MEDLINE Link].

40. 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. [QxMD MEDLINE Link].

41. 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. [QxMD MEDLINE Link].

42. 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. [QxMD MEDLINE Link].

43. 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. [QxMD MEDLINE Link].

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

45. 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. [QxMD MEDLINE Link].

Jaclyn Scholtz, MD Resident Physician, Department of Dermatology, Wright State University, Boonshoft School of Medicine

Jaclyn Scholtz, MD is a member of the following medical societies: American Academy of Dermatology, Ohio Dermatological Association, Women's Dermatologic Society

Disclosure: Nothing to disclose.

Julian J Trevino, MD Professor and Chair of Dermatology, Dermatology Residency Program Director, Wright State University, Boonshoft School of Medicine; Chief, Division of Pediatric Dermatology, Dayton Children’s Hospital

Julian J Trevino, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Ohio Dermatological Association, Ohio State Medical Association

Disclosure: Nothing to disclose.

David F Butler, MD Former 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: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

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.

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.

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: Nothing to disclose.

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 for Advanced Body Imaging

Disclosure: Nothing to disclose.

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.

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