International Journal of Health Sciences and Research

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Case Report

Year: 2018 | Month: June | Volume: 8 | Issue: 6 | Pages: 372-374

Use of Hair Mount as an Aid to the Diagnosis of Griscelli Syndrome

Dr. Shantanu Roy, Dr. S. N. Pore, Dr. A.R. Joshi, Dr. R.S. Bindu

Department of Pathology, GMC Aurangabad, Maharashtra, India

Corresponding Author: Dr. S. N. Pore


Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS), RAB27A (GS2) or MLPH (GS3) genes, characterized by generalized hypopigmentation of skin and hair.
We present a case report of 1 year old female child presented with silver hair and infections. Microscopic examination of patient’s hair shaft was used in diagnosis of Griscelli syndrome which showed hypopigmented areas. Thus, initial diagnosis can be made by using microscopic features, confirmation remains DNA analysis. Prognosis remains poor with fatal outcome if child remains untreated by Haematopoietic stem cell transplantation by the age of 5 years.

Key words: Griscelli syndrome, RAB27A, Immunodeficiency, Albinism, Hemophagocytic lymphohistiocytosis.

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