Beyond the Obvious: Acanthosis Nigricans as a Clue to the Rare Case of Rabson–Mendenhall Syndrome

Abstract

Rabson–Mendenhall syndrome (RMS) is a genetic disorder with autosomal recessive inheritance caused by mutations in the insulin receptor (INSR) gene. It is characterized by severe insulin resistance, acanthosis nigricans, skin tags, and growth retardation. Management of this condition is challenging and requires multidisciplinary approach. We present a case report on RMS in a 7-year-old girl who presented with coarse facies, acanthosis nigricans, skin tags, short stature, abdominal distension, and hyperglycemia with hyperinsulinemia. Her genetic analysis revealed a mutation in exon 3 of the INSR gene. The patient is being treated with tablet metformin and is being followed up.

Keywords

• acanthosis nigricans
• diabetes mellitus
• insulin resistance
• rabson–mendenhall syndrome