Griscelli syndrome - A case report
Abstract
Abstract : Griscelli syndrome is a rare autosomal recessive
disorder clinically characterized by partial albinism, silvery
hair with variable immunological and neurological
manifestations. Small and large clumps of melanin in the hair
shaft seen under the microscopy are diagnostic of Griscelli
syndrome. The commonest complication leading to mortality
is lymphohistiocytic proliferation in various organs, including
the brain. Three types of this syndrome have been described.
We report an 8 years old female child presenting with silvery
hair all over the body, hepatosplenomegaly and pancytopenia
with typical features on microscopy of hair shaft.
Keyword :Griscelli syndrome, albinism, immunodeficiency.
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M.T. Arzanian MD, S. Alavi MD, S. Zareifar MD. Griscelli
syndrome; A case report. Iran J Child Neurology Feb. 2007;
-51.
Ikramullah Khan, Syed Afaq Ahmed, Aamna Batool Khan.
Griscelli’s syndrome in a young adult; Journal of Pakistan
Association of Dermatologists 2007; 17: 122-124.
Griscelli C, Prunieras M. Pigment dilution and immunodeficiency:
a new syndrome. Int J Dermatol. Dec 1978;17
(10):788-91.
Hlide lapeere, Barbara Boone, Sofie De Schepper.
Hypomelanosis & hypermelanosis; Fitzpatrick’s
Dermatology in General Medicine; seventh edition;
- 623.
T Sathish Kumar , Sam Ebenazar, Prabhakar D Moses.
Griscelli syndrome. Int J Dermatology 2006; Volume
,Issue 4: 269-271.
Inamadar AC, Palit A. Silvery hair with bronze-tan in a
child: A case of Elejalde disease. Indian J Dermatol
Venereol Leprol 2007;73:417-9.
F Schuster, D K Stachel, I Schmid, F A M Baumeister, U B
Graubner. 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
transplantation; August (2) 2001, Vol 28, No - 4; 409-412.
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