Griscelli Syndrome Questions & Answers

1. Griscelli C, Prunieras M. Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol. 1978 Dec. 17(10):788-91. [QxMD MEDLINE Link].

2. Hammer JA 3rd, Wagner W. Functions of class V myosins in neurons. J Biol Chem. 2013 Oct 4. 288 (40):28428-34. [QxMD MEDLINE Link].

3. Harper MT, van den Bosch MT, Hers I, Poole AW. Absence of platelet phenotype in mice lacking the motor protein Myosin va. PLoS One. 2013. 8(1):e53239. [QxMD MEDLINE Link]. [Full Text].

4. Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, de la Luz Orozco-Covarrubias M, Tamayo L, Ruiz-Maldonando R. Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients. Arch Dermatol. 1999 Feb. 135 (2):182-6. [QxMD MEDLINE Link].

5. Takagishi Y, Murata Y. Myosin Va mutation in rats is an animal model for the human hereditary neurological disease, Griscelli syndrome type 1. Ann N Y Acad Sci. 2006 Nov. 1086:66-80. [QxMD MEDLINE Link].

6. Aslan D, Sari S, Derinoz O, Dalgic B. Griscelli syndrome: description of a case with Rab27A mutation. Pediatr Hematol Oncol. 2006 Apr-May. 23(3):255-61. [QxMD MEDLINE Link].

7. Bahadoran P, Busca R, Chiaverini C, et al. Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome. J Biol Chem. 2003 Mar 28. 278(13):11386-92. [QxMD MEDLINE Link].

8. Bizario JC, Feldmann J, Castro FA, et al. Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene. J Clin Immunol. 2004 Jul. 24(4):397-410. [QxMD MEDLINE Link].

9. Russ A, Mack J, Green-Murphy A, Occidental M, Mian A. Griscelli Type 2 Syndrome and Hemophagocytic Lymphohistiocytosis: Sisters With the Same Mutation but Different Presentations. J Pediatr Hematol Oncol. 2019 Aug. 41 (6):473-477. [QxMD MEDLINE Link].

10. Gailson T, Pandit S, Chandrasekaran S. Griscelli syndrome type 2. QJM. 2019 Jun 14. [QxMD MEDLINE Link].

11. Al-Idrissi E, ElGhazali G, Alzahrani M, et al. Premature birth, respiratory distress, intracerebral hemorrhage, and silvery-gray hair: differential diagnosis of the 3 types of Griscelli syndrome. J Pediatr Hematol Oncol. 2010 Aug. 32(6):494-6. [QxMD MEDLINE Link].

12. Cagdas D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, et al. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Eur J Pediatr. 2012 Oct. 171(10):1527-31. [QxMD MEDLINE Link].

13. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. 2007 Feb. 166(2):95-109. [QxMD MEDLINE Link].

14. Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. 2006 Dec. 6(6):410-5. [QxMD MEDLINE Link].

15. Love PB, Patterson SS, Prose NS, Atwater AR. Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. J Drugs Dermatol. 2012 Sep. 11(9):1126. [QxMD MEDLINE Link].

16. Hume AN, Collinson LM, Hopkins CR, et al. The leaden gene product is required with Rab27a to recruit myosin Va to melanosomes in melanocytes. Traffic. 2002 Mar. 3(3):193-202. [QxMD MEDLINE Link].

17. Menasche G, Ho CH, Sanal O, et al. Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). J Clin Invest. 2003 Aug. 112(3):450-6. [QxMD MEDLINE Link].

18. Van Gele M, Dynoodt P, Lambert J. Griscelli syndrome: a model system to study vesicular trafficking. Pigment Cell Melanoma Res. 2009 Jun. 22(3):268-82. [QxMD MEDLINE Link].

19. Lee JYW, Eldeeb MS, Hsu CK, Saito R, Abouzeid SA, McGrath JA. Further evidence for genotype-phenotype disparity in Griscelli syndrome. Br J Dermatol. 2017 Apr. 176 (4):1086-1089. [QxMD MEDLINE Link].

20. Chandravathi PL, Karani HD, Siddaiahgari SR, Lingappa L. Light Microscopy and Polarized Microscopy: A Dermatological Tool to Diagnose Gray Hair Syndromes. Int J Trichology. 2017 Jan-Mar. 9 (1):38-41. [QxMD MEDLINE Link].

21. Desnos C, Huet S, Darchen F. Should I stay or should I go?': myosin V function in organelle trafficking. Biol Cell. 2007 Aug. 99(8):411-23. [QxMD MEDLINE Link].

22. Westbroek W, Tuchman M, Tinloy B, et al. A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome. Mol Genet Metab. 2008 Jun. 94(2):248-54. [QxMD MEDLINE Link]. [Full Text].

23. Neeft M, Wieffer M, de Jong AS, et al. Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells. Mol Biol Cell. 2005 Feb. 16(2):731-41. [QxMD MEDLINE Link]. [Full Text].

24. Westbroek W, Lambert J, De Schepper S, et al. Rab27b is up-regulated in human Griscelli syndrome type II melanocytes and linked to the actin cytoskeleton via exon F-Myosin Va transcripts. Pigment Cell Res. 2004 Oct. 17(5):498-505. [QxMD MEDLINE Link].

25. Gazit R, Aker M, Elboim M, et al. NK cytotoxicity mediated by CD16 but not by NKp30 is functional in Griscelli syndrome. Blood. 2007 May 15. 109(10):4306-12. [QxMD MEDLINE Link].

26. Vincent LM, Gilbert F, Dipace JI, et al. Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2. Mol Genet Metab. 2010 Jun 10. [QxMD MEDLINE Link].

27. Yılmaz M, Cağdaş D, Grandin V, Altıntaş DU, Tezcan I, de Saint Basile G, et al. Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion. Pediatr Allergy Immunol. 2014 Oct 6. [QxMD MEDLINE Link].

28. Cetica V, Hackmann Y, Grieve S, Sieni E, Ciambotti B, Coniglio ML, et al. Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. J Allergy Clin Immunol. 2014 Oct 10. [QxMD MEDLINE Link].

29. Manglani M, Adhvaryu K, Seth B. Griscelli syndrome - a case report. Indian Pediatr. 2004 Jul. 41(7):734-7. [QxMD MEDLINE Link].

30. Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V. Griscelli syndrome. Indian J Pediatr. 2004 Feb. 71(2):173-5. [QxMD MEDLINE Link].

31. Ramzan M, Yadav SP, Kharya G, et al. Hemophagocytic Lymphohistiocytosis in Infants: A Single Center Experience from India. Pediatr Hematol Oncol. 2014 Jan 2. [QxMD MEDLINE Link].

32. Raghuveer C, Murthy SC, Mithuna MN, Suresh T. Silvery Hair with Speckled Dyspigmentation: Chediak-Higashi Syndrome in Three Indian Siblings. Int J Trichology. 2015 Jul-Sep. 7 (3):133-5. [QxMD MEDLINE Link].

33. Jennane S, El Kababri M, Hessissen L, et al. [A hemophagocytic syndrome revealing a Griscelli syndrome type 2]. Ann Biol Clin (Paris). 2013 Jul-Aug. 71(4):461-4. [QxMD MEDLINE Link].

34. Dotta L, Parolini S, Prandini A, et al. Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. 2013 Oct 17. 8:168. [QxMD MEDLINE Link]. [Full Text].

35. Henkes M, Finke J, Warnatz K, Ammann S, Stadt UZ, Janka G, et al. Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2). Ann Hematol. 2015 Jun. 94 (6):1057-60. [QxMD MEDLINE Link].

36. Navarrete CL, Araníbar L, Mardones F, Avila R, Velozo L. Cutaneous granulomas in Griscelli type 2 syndrome. Int J Dermatol. 2015 Dec 23. [QxMD MEDLINE Link].

37. Gironi LC, Zottarelli F, Savoldi G, Notarangelo LD, Basso ME, Ferrero I, et al. Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes. Medicina (Kaunas). 2019 Mar 25. 55 (3):[QxMD MEDLINE Link].

38. 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].

39. Li W, He M, Zhou H, Bourne JW, Liang P. Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database. Hum Mutat. 2006 May. 27(5):402-7. [QxMD MEDLINE Link].

40. Cagdas D, Ozgür TT, Asal GT, Tezcan I, Metin A, Lambert N, et al. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients. Eur J Pediatr. 2012 Jun 19. [QxMD MEDLINE Link].

41. Rajadhyax M, Neti G, Crow Y, Tyagi A. Neurological presentation of Griscelli syndrome: obstructive hydrocephalus without haematological abnormalities or organomegaly. Brain Dev. 2007 May. 29(4):247-50. [QxMD MEDLINE Link].

42. Ashrafi MR, Mohseni M, Yazdani S, et al. Bilateral basal ganglia involvement in a patient with Griscelli syndrome. Eur J Paediatr Neurol. 2006 Jul. 10(4):207-9. [QxMD MEDLINE Link].

43. Dinakar C, Lewin S, Kumar KR, Harshad SR. Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant. Indian Pediatr. 2003 Oct. 40(10):1005-8. [QxMD MEDLINE Link].

44. Al-Idrissi E, Elghazali G, Alzahrani M, et al. Premature Birth, Respiratory Distress, Intracerebral Hemorrhage, and Silvery-gray Hair: Differential Diagnosis of the 3 Types of Griscelli Syndrome. J Pediatr Hematol Oncol. 2010 Aug. 32(6):494-6. [QxMD MEDLINE Link].

45. Kharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss?. Dermatol Online J. 2007 May 1. 13(2):17. [QxMD MEDLINE Link].

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

47. Akcakus M, Koklu E, Narin N, Kose M. Clinical and microscopic hair features of Griscelli syndrome associated with asymmetric crying facies in an infant. Pediatr Dev Pathol. 2007 Jun 13. 1.

48. Kose O, Kurekci AE, Safali M, Akin R, Koseoglu V, Tezcan I. Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. Pediatr Transplant. 2007 Nov. 11(7):792-5. [QxMD MEDLINE Link].

49. Bryceson YT, Pende D, Maul-Pavicic A, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012 Mar 22. 119(12):2754-63. [QxMD MEDLINE Link].

50. Haraldsson A, Weemaes CM, Bakkeren JA, Happle R. Griscelli disease with cerebral involvement. Eur J Pediatr. 1991 Apr. 150(6):419-22. [QxMD MEDLINE Link].

51. Valente NY, Machado MC, Boggio P, et al. Polarized light microscopy of hair shafts aids in the differential diagnosis of Chédiak-Higashi and Griscelli-Prunieras syndromes. Clinics (Sao Paulo). 2006 Aug. 61(4):327-32. [QxMD MEDLINE Link].

52. Smith VV, Anderson G, Malone M, Sebire NJ. Light microscopic examination of scalp hair samples as an aid in the diagnosis of paediatric disorders: retrospective review of more than 300 cases from a single centre. J Clin Pathol. 2005 Dec. 58(12):1294-8. [QxMD MEDLINE Link].

53. Celik HH, Tore H, Tunali S, Tatar I, Aldur MM. Light and scanning electron microscopic examination of hair in Griscelli syndrome. Saudi Med J. 2007 Aug. 28(8):1275-7. [QxMD MEDLINE Link].

54. Cesaro S, Locatelli F, Lanino E, et al. Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica. 2008 Nov. 93(11):1694-701. [QxMD MEDLINE Link].

55. Trottestam H, Beutel K, Meeths M, et al. Treatment of the X-linked lymphoproliferative, Griscelli and Chédiak-Higashi syndromes by HLH directed therapy. Pediatr Blood Cancer. 2009 Feb. 52(2):268-72. [QxMD MEDLINE Link].

56. Gupta D, Thakral D, Bakhshi S, Kabra SK, Mitra DK. Hematopoietic stem cell transplantation in children with Griscelli Syndrome type 2: Experience and outcomes. Indian J Pathol Microbiol. 2019 Apr-Jun. 62 (2):279-282. [QxMD MEDLINE Link].

57. Mehdizadeh M, Zamani G. Griscelli syndrome: a case report. Pediatr Hematol Oncol. 2007 Oct-Nov. 24(7):525-9. [QxMD MEDLINE Link].

58. Sandrock K, Zieger B. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother. 2010. 37 (5):248-258. [QxMD MEDLINE Link].

Saud A Alobaida, MBBS, FRCPC Dermatologist, Pediatric and General Dermatology, Department of Dermatology, King Faisal Specialist Hospital and Research Centre, Saudi Arabia

Saud A Alobaida, MBBS, FRCPC is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Wingfield Rehmus, MD, MPH Dermatologist, BC Children's Hospital, Vancouver, British Columbia

Wingfield Rehmus, MD, MPH is a member of the following medical societies: American Academy of Dermatology, Society for Pediatric Dermatology

Disclosure: Serve(d) as a speaker or a member of a speakers bureau for: Abbvie; Valeant Canada<br/> Received honoraria from Valeant Canada for advisory board; Received honoraria from Pierre Fabre for advisory board; Received honoraria from Mustella for advisory board; Received honoraria from Abbvie for advisory board.

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.

Julie C Harper, MD Assistant Program Director, Assistant Professor, Department of Dermatology, University of Alabama at Birmingham

Julie C Harper, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Received honoraria from Stiefel for speaking and teaching; Received honoraria from Allergan for speaking and teaching; Received honoraria from Intendis for speaking and teaching; Received honoraria from Coria for speaking and teaching; Received honoraria from Sanofi-Aventis for speaking and teaching.

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.

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