Familial gigantic melanocytosis

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis

“…Patients described by El‐Darouti had sparse axillary and pubic hair . However, this feature was not seen in our patient, nor in single reports of Thai and Indian patient's respectively …”

“…FGM was first described by El‐Darouti, in 1984, who initially termed it “familial melanopathy with gigantic melanocytes.” In a subsequent report in 2005, the same author renamed it as “familial gigantic melanocytosis.” It is not a well‐recognized pigmentary disorder, and is not cited in most of the published reviews and standard textbooks, except Weedon's . There are 12 documented cases of FGM; all have been in Middle‐Eastern patients, except one Thai and one Indian . The onset of the dyschromia in FGM is usually in the first year of life and males are more commonly affected .…”

“…The disease is considered to exhibit distinctive clinical features of raindrop‐like hypopigmentation studded on a background of diffuse hyperpigmentation, predominantly on sun‐exposed areas including face, neck, chest, and extremities, and to a lesser extent on the unexposed area of trunk . The only Indian patient previously reported had an unusual presentation, wherein the hyperpigmentation was reticulate instead of diffuse . The patients also have light‐colored scalp and body hairs.…”

“…In spite of silvery hair being a constant feature, FGM is primarily described as a disorder of dyschromatosis, and differential diagnosis considered are for the same. The various differential diagnoses for FGM enlisted in literature are both hereditary disorders including dyschromatosis universalis hereditaria (DUH), dyschromatosis symmetrica hereditaria (DSH), reticulate acropigmentation of Kitamura, Fanconi anemia, dyskeratosis congenita, Dowling Degos disease, and acquired disorders such as arsenical pigmentation, antimalarial‐induced hyperpigmentation, lichen planus pigmentosus, and biliary cirrhosis . Although not mentioned in previous reports, we would like to add amyloidosis cutis dyschromica (ACD), to this list (Table ).…”

“…Surprisingly, GS3 has not been considered, even in two reports, published subsequent to 2003. These include a very recent one in 2018, and another by El Dauroti in 2005, who has conceptualized and reported all but two cases of FGM. Notably, in a subsequent book in 2013 by the same author, GS3 is listed in the table of differential diagnosis for FGM, with clinical features stated for GS3 as similar to FGM.…”