Open AccessGriscelli syndrome type-3
Author(s) -
Bela Shah,
Ashish Jagati,
Nilesh K Katrodiya,
Sonal M Patel
Publication year - 2016
Publication title -
indian dermatology online journal
Language(s) - English
Resource type - Journals
eISSN - 2249-5673
pISSN - 2229-5178
DOI - 10.4103/2229-5178.193910
Subject(s) - medicine , pigmentation disorder , dermatology , skin type , melanosome , phenotype , pathology , melanin , genetics , biology , gene
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.