A Case Report of GRISCELLI syndrome type 3

Abstract

Griscelli syndrome is a rare autosomal recessive disorder that results in pigmentary dilution of the skin, the silvery-grey sheen of the hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes. Three variants of Griscelli syndrome have been identified: Griscelli syndrome types 1-3, which can be associated with primary neurological impairment (type 1), immunologic impairment (type 2), or be isolated (type 3). Griscelli syndrome type 3 is characterized by hypomelanosis with no immunological and neurological manifestation. Prognosis is very good in type 3 Griscelli syndrome and usually requires no active intervention, as opposed to type 1 and 2 where early diagnosis and treatment play a crucial role in the patient's survival. On Cutaneous examination, the patient had silvery grey hair all over the body including, eyebrows and eyelashes. Bronze tan hyperpigmentation with intervening hypopigmentation over the whole body. Sections revealed stratified squamous keratinized epithelium with an increased number of melanocytes with aggregates of melanin pigmentation in the basal layer with adjoining poorly pigmented keratinocytes.

Keywords: GRISCELLI syndrome, hypomelanosis, type 3