International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Since Year 2012 | Open Access | Fully Refereed | Peer Reviewed

ISSN: 2319-7064




Downloads: 121

Case Studies | Pediatrics | India | Volume 4 Issue 5, May 2015


Case Report: Griscelli Syndrome ? A Unique Pigmentary Defect

Dr. Ashish Lothe | Dr. Leena Dhande


Abstract: Griscelli syndrome is a rare disorder with hypomelanosis of skin, silvery-gray hair due to abnormal melanosomal trafficking in melanocytes. It is caused by mutations in 3 genes MYO5A, RAB-27A, MLPH (Melanophilin) and accordingly classified into 3 subtypes GS1, GS2 and GS3 respectively. These 3 proteins interact and together form heterotrimeric complex responsible for intracellular vesicular transport and secretion. RAB27A is key effector of cytotoxic granule exocytosis. The feature common to all 3 variants is pigmentary dilution. GS1 patients have primary neurological disorder without immune defects, whereas GS2 group exhibit recurrent infections with hemophagocytosis. Agglomerates of mature melanosomes in hair shaft and skin microscopy, sparse pigmentation of adjacent keratinocytes, and absence of giant granules in neutrophils are diagnostic of GS. GS2 develop hemophagocytic syndrome characterized by uncontrolled activation of T lymphocytes, macrophages and generalized lymphohistiocytic infiltrates. Bone marrow transplantation remains only curative modality. We report a child with classical features of GS and pathognomonic histopathological features of skin and hair.


Keywords: Griscelli syndrome, silvery-gray hair, melanosomes, pigmentary dilution, immunodeficiency


Edition: Volume 4 Issue 5, May 2015,


Pages: 742 - 744

Case Report: Griscelli Syndrome ? A Unique Pigmentary Defect


How to Cite this Article?

Dr. Ashish Lothe, Dr. Leena Dhande, "Case Report: Griscelli Syndrome ? A Unique Pigmentary Defect", International Journal of Science and Research (IJSR), https://www.ijsr.net/get_abstract.php?paper_id=SUB154159, Volume 4 Issue 5, May 2015, 742 - 744, #ijsrnet

How to Share this Article?

Enter Your Email Address




Similar Articles with Keyword 'immunodeficiency'

Downloads: 112

Research Paper, Pediatrics, India, Volume 4 Issue 1, January 2015

Pages: 1633 - 1637

Various Clinical Manifestations of HIV among Age Group 18 Months to 12 Years of Age

Elizabeth Bandrapalli M.D | P. Jhansi Rani M.D.

Share this Article

Downloads: 126

Research Paper, Pediatrics, India, Volume 9 Issue 2, February 2020

Pages: 1073 - 1074

A Case Report on Griscelli Syndrome

Dr Ananda Kumar

Share this Article


Top