Title: Griscelle syndrome type 2 in a girl child in India with review of literature
Authors: Dr Kiran B, Praveen T, Prashanth JB
DOI: https://dx.doi.org/10.18535/jmscr/v10i4.17
Abstract
Griscelle syndrome type 2 is a rare autosomal recessive disorder due to mutation in RAB 27 gene. Silvery grey hair and light coloured skin with variable immunodeficiency is the characteristic clinical features. We report a girl child with Griscelle syndrome type 2 with typical clinical features and review of literature.
References
- Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, Langfort R. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol. 2011 Dec;24(6):471-3. doi: 10.1089/vim.2011.0034. Epub 2011 Nov 23. PMID: 22111599.
- Janka G, zur Stadt U. Familial and acquired hemophagocytic lymphohistiocytosis. Hematology Am Soc Hematol Educ Program. 2005:82-8. doi: 10.1182/asheducation-2005.1.82. PMID: 16304363.
- Meschede IP, Santos TO, Izidoro-Toledo TC, Gurgel-Gianetti J, Espreafico EM. Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure. Braz J Med Biol Res. 2008 Oct;41(10):839-48. doi: 10.1590/s0100-879x2008001000002. PMID: 19030707.
- Singh A, Garg A, Kapoor S, Khurana N, Entesarian M, Tesi B. An Indian boy with griscelli syndrome type 2: case report and review of literature. Indian J Dermatol. 2014;59(4):394-397. doi:10.4103/0019-5154.135494.
- Sheela SR, Latha M, Injody SJ. Griscelli syndrome: Rab 27a mutation. Indian Pediatr. 2004 Sep;41(9):944-7. PMID: 15475639.
- Griscelli syndrome type I; OMMIM (online Mendelian inheritance in man)
- 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. 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7. PMID: 9486701.
- Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology. 2011 Jul;3(2):107-11. doi: 10.4103/0974-7753.90825. PMID: 22223973; PMCID: PMC3250006.
- Bahrami A, Nateghian A, Salehi S, Bahoush G, Talebi S, Ghasemi S, Razi S, Rezaei N. Griscelli Syndrome Type 2: A Rare Case With Apparently Normal Skin and Hair Pigmentation. Acta Med Iran. 2020;58(1):38-42.
- Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C. Partial albinism with immunodeficiency (Griscelli syndrome). J Pediatr. 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. PMID: 7996360.
- Noah S Scheinfeld, An M Johnson et al. Griscelli syndrome work up. eMedicine. Medscape refrence 15 feb.2013.
- 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. PMID: 17498436.
- Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, Haas RJ, Belohradsky BH. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant. 2001 Aug;28(4):409-12. doi: 10.1038/sj.bmt.1703114. PMID: 11571516.
- Aslan D, Sari S, Derinöz O, Dalgiç B. Griscelli syndrome: description of a case with Rab27A mutation. Pediatr Hematol Oncol. 2006 Apr-May;23(3):255-61. doi: 10.1080/08880010500506909. PMID: 16517541.
- Bizario JC, Feldmann J, Castro FA, Ménasché G, Jacob CM, Cristofani L, Casella EB, Voltarelli JC, de Saint-Basile G, Espreafico EM. 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. doi: 10.1023/B:JOCI.0000029119.83799.cb. PMID: 15163896.