Griscelli Syndrome Treatment & Management
- Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD more...
Medical treatment of patients with Griscelli syndrome is difficult. The only real treatment for the hemophagocytic lymphohistiocytosis syndromes of which Griscelli syndrome is a part is stem cell transplantation. This has received evidence-based support in an Italian study of 61 patients with Griscelli syndrome) reported in 2009. Similarly, a Swedish study with 5 patients with Griscelli syndrome type 2 responded to stem cell transplantation.
For patients with defects in RAB27A, antibiotics and antiviral agents are used with mixed effects. Similarly, medications may not control the neurologic symptoms of the disease.
In Griscelli syndrome related to MYO5A mutations, no specific treatment exists because the defect is in the brain rather than in the blood cells as in cases caused by the RAB27A mutation. The severe neurologic impairment and retarded psychomotor development do not improve with time.
Only bone marrow transplantation offers a possibility of extended survival. In preparation for transplantation, particularly in patients with Griscelli syndrome caused by a mutation in RAB27A, various immunosuppressive regimens have been used to attenuate hemophagocytic syndrome (HS) (accelerated phase).
Mehdizadeh and Zamani noted a 10-year-old boy with Griscelli syndrome and macrophage activation syndrome, which was controlled with immunosuppressive therapy.
Bone marrow transplantation is the most effective treatment of this condition. Bone marrow transplantation is the only possible cure for Griscelli syndrome. Even a low number of donor cells in the patient's bone marrow can be sufficient to control symptoms of Griscelli syndrome in cases caused by mutations in RAB27A.
The specialists who are most often initially consulted for treatment of this condition are geneticists, hematologists, dermatologists, neurologists, and pediatricians. Once a diagnosis is made, such specialists should consider the need for chemotherapy in patients and how to proceed with bone marrow transplantation.
No special diet is recommended for patients with Griscelli syndrome.
Because patients with Griscelli syndrome can have severe neurologic and immunologic problems, their activities are usually limited. For patients, avoiding interactions that expose them to infections is important. Because patients with Griscelli syndrome can have seizures that are difficult to control, they must be actively monitored.
Griscelli C, Prunieras M. Pigment dilution and immunodeficiency: a new syndrome. Int J Dermatol. 1978 Dec. 17(10):788-91. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. 2007 Feb. 166(2):95-109. [Medline].
Filipovich AH. Hemophagocytic lymphohistiocytosis and related disorders. Curr Opin Allergy Clin Immunol. 2006 Dec. 6(6):410-5. [Medline].
Love PB, Patterson SS, Prose NS, Atwater AR. Griscelli syndrome associated with hemophagocytic lymphohistiocytosis. J Drugs Dermatol. 2012 Sep. 11(9):1126. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Manglani M, Adhvaryu K, Seth B. Griscelli syndrome - a case report. Indian Pediatr. 2004 Jul. 41(7):734-7. [Medline].
Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V. Griscelli syndrome. Indian J Pediatr. 2004 Feb. 71(2):173-5. [Medline].
Ramzan M, Yadav SP, Kharya G, et al. Hemophagocytic Lymphohistiocytosis in Infants: A Single Center Experience from India. Pediatr Hematol Oncol. 2014 Jan 2. [Medline].
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. [Medline].
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. [Medline].
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. [Medline]. [Full Text].
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].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2. 2:43. [Medline].
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.
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. [Medline].
Haraldsson A, Weemaes CM, Bakkeren JA, Happle R. Griscelli disease with cerebral involvement. Eur J Pediatr. 1991 Apr. 150(6):419-22. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
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. [Medline].
Mehdizadeh M, Zamani G. Griscelli syndrome: a case report. Pediatr Hematol Oncol. 2007 Oct-Nov. 24(7):525-9. [Medline].
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. [Medline].
Navarrete CL, Araníbar L, Mardones F, Avila R, Velozo L. Cutaneous granulomas in Griscelli type 2 syndrome. Int J Dermatol. 2015 Dec 23. [Medline].