ArticleFrontiers in pediatrics2025
Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Rabson-Mendenhall syndrome caused by a novel splice-site mutation (c.1123+2 T>C) of insulin receptor: A case report and review of literature.World journal of diabetes · 2026Article
- Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance.Frontiers in endocrinology · 2026Article
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5 authors.
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Abstract
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. Conclusion: Acanthosis nigricans (AN) can serve as a clinical marker that strongly suggests underlying metabolic syndromes, making genetic analysis essential for confirming the diagnosis.
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