Griscelli Syndrome Follow-up
- Author: Noah S Scheinfeld, JD, MD, FAAD; Chief Editor: Dirk M Elston, MD more...
Further Outpatient Care
Because patients can have seizures and HS, they must be carefully monitored by their caregivers.
Further Inpatient Care
Patients must be aggressively supported and monitored when experiencing hemophagocytic syndrome (HS). Care can require antibiotics and systemic support. Patients who have seizures must be monitored and positioned accordingly.
Inpatient & Outpatient Medications
Patients with Griscelli syndrome 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.
Morphologic examination of peripheral blood or cultured amniotic and chorionic villi cells can help in prenatal diagnosis of Griscelli syndrome.
Prenatal diagnosis of Griscelli syndrome 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 Griscelli syndrome 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 Griscelli syndrome, polymorphic markers linked to the Griscelli syndrome 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.
Patients with Griscelli syndrome can have HS; infections; and neurologic, immunologic, and bleeding problems. Köse et al noted the development of in situ melanoma after allogeneic bone marrow transplantation in a person with Griscelli syndrome type 2.
The prognosis for long-term survival of patients with Griscelli syndrome is relatively poor. In the form caused by the RAB27A defect, Griscelli syndrome is usually rapidly fatal within 1-4 years without treatment at onset of an accelerated phase.
The presence of cutaneous granulomas aids in detection of Griscelli syndrome, and it portends a poor prognosis with systemic involvement.
Without bone marrow transplantation, the prognosis for this condition is dismal. Some patients die after transplantation, and some patients have had lasting remissions. The mean patient age at the time of death is 5 years.
Parents must understand that their children need aggressive care and that they can have additional children who will have Griscelli syndrome. Parents also 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.
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].