Griscelli Syndrome Differential Diagnoses

  • Author: Noah S Scheinfeld, MD, JD, FAAD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jul 18, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Noah S Scheinfeld, MD, JD, FAAD  Assistant Clinical Professor, Department of Dermatology, Columbia University College of Physicians and Surgeons; Consulting Staff, Department of Dermatology, St Luke's Roosevelt Hospital Center, Beth Israel Medical Center, and New York Eye and Ear Infirmary; Private Practice

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

Disclosure: Optigenex Consulting fee Independent contractor

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, International Society for Magnetic Resonance in Medicine, Radiological Society of North America, Society for Pediatric Radiology, and Society of Computed Body Tomography and Magnetic Resonance

Disclosure: Nothing to disclose.

Specialty Editor Board

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: Stiefel Honoraria Speaking and teaching; Allergan Honoraria Speaking and teaching; Intendis Honoraria Speaking and teaching; Coria Honoraria Speaking and teaching; Sanofi-Aventis Honoraria Speaking and teaching

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside 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: 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, Association of Professors of Dermatology, North American Hair Research Society, and Society for Investigative Dermatology

Disclosure: Nothing to disclose.

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 Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

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

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

  3. 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. Mar 28 2003;278(13):11386-92. [Medline].

  4. 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. Jul 2004;24(4):397-410. [Medline].

  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. Nov 2006;1086:66-80. [Medline].

  6. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. Feb 2007;166(2):95-109. [Medline].

  7. Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. Dec 2006;6(6):410-5. [Medline].

  8. 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. Aug 2010;32(6):494-6. [Medline].

  9. 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. Aug 2003;112(3):450-6. [Medline].

  10. 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. Mar 2002;3(3):193-202. [Medline].

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

  12. 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. Jun 2008;94(2):248-54. [Medline].

  13. 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. Feb 2005;16(2):731-41. [Medline].

  14. 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. Oct 2004;17(5):498-505. [Medline].

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

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

  17. 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. Jun 10 2010;[Medline].

  18. Manglani M, Adhvaryu K, Seth B. Griscelli syndrome - a case report. Indian Pediatr. Jul 2004;41(7):734-7. [Medline].

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

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

  21. 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. May 2006;27(5):402-7. [Medline].

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

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

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

  25. 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. Aug 2010;32(6):494-6. [Medline].

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

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

  28. 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. Jun 13 2007;1.

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

  30. 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). Aug 2006;61(4):327-32. [Medline].

  31. 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. Dec 2005;58(12):1294-8. [Medline].

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

  33. 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. Nov 2008;93(11):1694-701. [Medline].

  34. 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. Feb 2009;52(2):268-72. [Medline].

  35. Mehdizadeh M, Zamani G. Griscelli syndrome: a case report. Pediatr Hematol Oncol. Oct-Nov 2007;24(7):525-9. [Medline].

  36. [Guideline] Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. May 2005;94(5 Suppl 1):S1-63. [Medline].

  37. Sandrock K, Zieger B. Current Strategies in Diagnosis of Inherited Storage Pool Defects. Transfus Med Hemother. 2010;37(5):248-258. [Medline]. [Full Text].

  38. 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. Nov 2007;11(7):792-5. [Medline].

  39. Bonilla FA, Bernstein IL, Khan DA, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol. May 2005;94(5 Suppl 1):S1-63. [Medline].

  40. de Saint Basile G. Griscelli syndrome. Orphanet. Available at http://www.orpha.net/data/patho/GB/uk-griscelli.pdf. Accessed March, 2001.

  41. Miyata M, Kishimoto Y, Tanaka M, Hashimoto K, Hirashima N, Murata Y, et al. A role for myosin Va in cerebellar plasticity and motor learning: a possible mechanismunderlying neurological disorder in myosin Va disease. J Neurosci. Apr 2011;16:6067-78. [Medline].

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

 
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