Griscelli syndrome: A unique pigmentary defect

Case Report: Griscelli Syndrome – A Unique Pigmentary Defect

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 t...

Griscelli Syndrome

Griscelli syndrome.

We report a case of Griscelli Syndrome (GS). Our patient initially presented with a diagnosis of haemophagocytic lymphistiocytosis (HLH). Subsequent microscopic analysis of the patient's hair follicle revealed abnormal distribution of melanosomes in the shaft, which is a hallmark for GS. Analysis of RAB27A gene in this patient revealed a homozygous mutation in exon 6, c.550C>T, p.R184X . This n...

Griscelli Syndrome: A Case Report

OBJECTIVE Griscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the f...

Griscelli syndrome - a case report.

Griscelli syndrome is a rare autosomal recessive disorder characterized by partial albinism with variable immunodeficiency. Silvery gray hair with large, clumped melanosomes on microscopy of hair shafts are diagnostic. The commonest complication leading to mortality includes lymphohistiocytic proliferation in various organs, including the brain. We present a child with classic clinical features...