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Year : 2017  |  Volume : 1  |  Issue : 2  |  Page : 65-68

Griscelli syndrome Type 2: A report of rare case

1 Department of Skin and STD, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
2 Department of Dermatology and Venereology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
3 Department of Pathology, Karnataka Institute of Medical Sciences, Hubli, Karnataka, India
4 Department of Dermatology, Venereology and Leprosy, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Correspondence Address:
Vidya Kuntoji
D/o, Shri B. M. Kuntoji, H. No. MIG-1/191, Near Chidanand Math, Hudco Colony, Gadag - 582 103, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/CDR.CDR_1_16

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Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by pigmentary dilution of the hair and skin. Three different types (1–3) caused by mutation in three different genes have been described. GS2 is characterized by partial albinism, immunodeficiency, organomegaly, and hemophagocytic lymphohistiocytosis (HLH). Long-term prognosis of GS2 is poor, and in most cases, it leads to death within the first decade of life. GS2 is most common among three types with 11 cases reported from the Indian literature. We report a case of GS2 which was diagnosed well before the development of life-threatening HLH.

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