Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl

Abstract

Griscelli syndrome (GS) is a genetic disorder, characterized by pigmentary dilution of skin and hair, neurological manifestations, and variable immunodeficiency. Three different mutations have been reported in different phenotypes of this disease. We present the case of a 7-year-old female child with hypopigmentation of skin, silvery grey hair, recurrent infections, and ichthyosis who was diagnosed with GS type 2 with hemophagocytic lymphohistiocytosis and congenital ichthyosis in accordance with pathognomic microscopic hair appearance, laboratory parameters, and genome sequencing, which revealed mutations in RAB27A and SDR9C7 gene. The unique presentation of autosomal recessive congenital ichthyosis along with GS type 2 is highlighted in this case report.

Keywords

• autosomal recessive congenital ichthyosis
• griscelli syndrome
• hemophagocytic lymphohistiocytosis
• next-generation sequencing