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CASE REPORT article
Front. Pediatr.
Sec. Pediatric Immunology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1511429
This article is part of the Research Topic Advances in the diagnosis, management and outcomes of Immune-Mediated Skin Diseases in children View all 5 articles
Rabson-Mendenhall Syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report
Provisionally accepted- Chongqing Hospital of Traditional Chinese Medicine, Chongqing, China
Background: Rabson-Mendenhall Syndrome (RMS), a rare hereditary form of insulin resistance, is marked by severe hyperinsulinemia and early-onset acanthosis nigricans (AN) during childhood. Case presentation: A case of a 15-month-old girl was reported, presenting with widespread acanthosis nigricans, growth retardation, dysmorphic facial features, and hypertrichosis. Laboratory results indicated fasting hypoglycemia and hyperinsulinemia, while her oral glucose tolerance test (OGTT) remained normal. Whole-exome sequencing revealed two novel mutations in the insulin receptor gene (INSR): a c.3392 C>G missense/frameshift mutation in exon 19 and a c.4007_4010delAGAG deletion in exon 22.Acanthosis nigricans (AN) can serve as a clinical marker that strongly suggests underlying metabolic syndromes, making genetic analysis essential for confirming the diagnosis.
Keywords: INSR gene, Rabson-Mendenhall syndrome, Acanthosis Nigricans, case report, acanthosis nigricans (AN)
Received: 15 Oct 2024; Accepted: 01 Apr 2025.
Copyright: © 2025 Liu, Yan, Sheng, Hui and Zhou. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Deming Liu, Chongqing Hospital of Traditional Chinese Medicine, Chongqing, China
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