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

Autor:	Ashwath Duraiswamy, Sowmya S. Aithal, Sanath Aithal, Anmika Nandakumar
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	acanthosis nigricans diabetes mellitus insulin resistance rabson–mendenhall syndrome Dermatology RL1-803 Pediatrics RJ1-570
Zdroj:	Indian Journal of Paediatric Dermatology, Vol 25, Iss 3, Pp 246-249 (2024)
Druh dokumentu:	article
ISSN:	2319-7250 2319-7269
DOI:	10.4103/ijpd.ijpd_89_24
Popis:	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.
Databáze:	Directory of Open Access Journals
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