eMedicine Specialties > Dermatology > Diseases of Pigmentation

Griscelli Syndrome: Follow-up

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
Coauthor(s): Ann M Johnson, MD, Pediatric Radiology Fellow, Department of Radiology, The Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 1, 2008

Follow-up

Further Inpatient Care

  • Patients must be aggressively supported and monitored when experiencing HS. Care can require antibiotics and systemic support.
  • Patients who have seizures must be monitored and positioned accordingly.

Further Outpatient Care

  • Because patients can have seizures and HS, they must be carefully monitored by their caregivers.

Inpatient & Outpatient Medications

  • Patients with GS can be given antibiotics if they have HS.
  • Seizures have not been reported to be controlled by anticonvulsants.
  • Immunosuppressive medications are given in preparation for bone marrow transplants.

Deterrence/Prevention

  • Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of GS.
  • Prenatal diagnosis of GS has been accomplished by examination of hair from a biopsy sample of fetal scalp obtained at 21 weeks of gestation. A fetus that had such a biopsy was aborted. These results were confirmed by a postabortion examination of the fetus revealing silvery hair and characteristic microscopic findings.
  • With cloning of the GS genes, direct mutation-based carrier detection and prenatal diagnosis currently appears possible in families with defined MYO5A or RAB27A gene mutations. In addition, given the proximity of the 2 genes responsible for GS, polymorphic markers linked to the GS locus in the band 15q21 region can be used for identifying the presence of the gene even if the precise mutation has not yet been identified in a family.

Complications

  • Patients with GS can have HS; infections; and neurologic, immunologic, and bleeding problems.
  • Köse et al29 noted the development of in situ melanoma after allogeneic bone marrow transplantation in a person with GS2.

Prognosis

  • The prognosis for long-term survival of patients with GS is relatively poor. In the form caused by the RAB27A defect, GS is usually rapidly fatal within 1-4 years without treatment at onset of an accelerated phase.
  • Without bone marrow transplantation, the prognosis for this condition is dismal. Some patients die after transplantation, and some patients have had lasting remissions.

Patient Education

  • Parents must understand that their children need aggressive care and that they can have additional children who will have GS.
  • Parents must understand the need for a bone marrow transplant and the complications of the procedure. Parents must also understand the dismal prognosis of this condition without transplantation and the risks of bone marrow transplantation.

Miscellaneous

Medicolegal Pitfalls

  • The main medicolegal pitfalls involve failure to diagnose this condition and failure to take steps to treat it.
  • In addition, parents must be informed that, although GS is a recessive condition, they can have additional children with this condition.
 


More on Griscelli Syndrome

Overview: Griscelli Syndrome
Differential Diagnoses & Workup: Griscelli Syndrome
Treatment & Medication: Griscelli Syndrome
Follow-up: Griscelli Syndrome
References
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References

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  2. Aslan D, Sari S, Derinöz O, Dalgiç 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, Westbroek W, Lambert J, Bille K, 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, Ménasché G, Jacob CM, Cristofani L, 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].

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  8. Ménasché G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, 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].

  9. Hume AN, Collinson LM, Hopkins CR, Strom M, Barral DC, Bossi G, 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].

  10. Neeft M, Wieffer M, de Jong AS, Negroiu G, Metz CH, van Loon A, 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].

  11. Westbroek W, Lambert J, De Schepper S, Kleta R, Van Den Bossche K, Seabra MC, 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].

  12. Gazit R, Aker M, Elboim M, Achdout H, Katz G, Wolf DG, 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].

  13. 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].

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  16. 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].

  17. 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].

  18. 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].

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

  20. 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].

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  29. Köse O, Kürekçi AE, Safali M, Akin R, Köseoglu V, Tezcan I, et al. Development of in situ melanoma after allogeneic bone marrow transplantation in Griscelli syndrome type II. Pediatr Transplant. Nov 2007;11(7):792-5. [Medline].

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  32. Gögüs S, Topçu M, Küçükali T, Akçören Z, Berkel I, Ersoy F, et al. Griscelli syndrome: report of three cases. Pediatr Pathol Lab Med. Mar-Apr 1995;15(2):309-19. [Medline].

  33. Malhotra AK, Bhaskar G, Nanda M, Kabra M, Singh MK, Ramam M. Griscelli syndrome. J Am Acad Dermatol. Aug 2006;55(2):337-40. [Medline].

  34. Mancini AJ, Chan LS, Paller AS. Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. J Am Acad Dermatol. Feb 1998;38(2 Pt 2):295-300. [Medline].

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Further Reading

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Keywords

GS, MIM 214450, partial albinism with immunodeficiency, Griscelli-Prunieras syndrome, Griscelli-Prunieras variant, Griscelli's disease, Griscelli disease

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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

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: 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: Nothing to disclose.

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: Nothing to disclose.

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.

 
 
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