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Case Reports
. 2016 Nov-Dec;7(6):506-508.
doi: 10.4103/2229-5178.193910.

Griscelli syndrome type-3

Bela J Shah  1 , Ashish K Jagati  1 , Nilesh K Katrodiya  1 , Sonal M Patel  1
Affiliations
Case Reports

Griscelli syndrome type-3

Bela J Shah et al. Indian Dermatol Online J. 2016 Nov-Dec.

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive multisystem disorder of pigmentary dilution of skin, silver gray hair, variable immunodeficiency, neurological impairment, and abnormal accumulation of melanosomes in melanocytes. GS type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 GS and usually require no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment plays a crucial role in patient's survival. The characteristic phenotypic appearance, especially the pigment dilution of the patient's hair, is emphasized here.

Keywords: Griscelli syndrome; melanin clump; silvery gray hair.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Silvery gray hair
Figure 2
Figure 2
Bronze tan hyperpigmentation over extremities
Figure 3
Figure 3
Uneven clusters of aggregated melanin pigment in medullary area of hair shaft x20
See this image and copyright information in PMC

References

    1. Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. A syndrome associating partial albinism and immunodeficiency. Am J Med. 1978;65:691–702. - PubMed
    1. Fukuda M, Kuroda TS, Mikoshiba K. Slac2-a/melanophilin, the missing link between Rab27 and myosin Va: Implications of a tripartite protein complex for melanosome transport. J BiolChem. 2002;277:12432–6. - PubMed
    1. Hurvitz H, Gillis R, Klaus S, Klar A, Gross-Kieselstein F, Okon E. A kindred with Griscelli disease: Spectrum of neurological involvement. Eur J Pediatr. 1993;152:402–5. - PubMed
    1. Ménasché G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25:173–6. - PubMed
    1. Schneider LC, Berman RS, Shea CR, Perez-Atayde AR, Weinstein H, Geha RS. Bone marrow transplantation (BMT) for the syndrome of pigmentary dilution and lymphohistiocytosis (Griscelli syndrome) J ClinImmunol. 1990;10:146–53. - PubMed

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