Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the

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Shi Yan1, Yu Sheng1, Hai-Zhen Hui1

  • 1Chongqing Clinical Research Center for Dermatology, Chongqing Key Laboratory of Integrative Dermatology Research, Key Laboratory of External Therapies of Traditional Chinese Medicine in Eczema, Department of Dermatology, Chongqing Traditional Chinese Medicine Hospital/The First Affiliated Hospital of Chongqing College of Traditional Chinese Medicine, Chongqing, China.

Frontiers in Pediatrics
|May 1, 2025
PubMed

Insights

Rabson-Mendenhall Syndrome, a rare genetic disorder, causes severe insulin resistance and acanthosis nigricans in children. Genetic analysis identified novel insulin receptor gene mutations, crucial for diagnosis.

Area of Science:

  • Genetics
  • Endocrinology
  • Metabolic Disorders

Background:

  • Rabson-Mendenhall Syndrome (RMS) is a rare hereditary condition characterized by severe insulin resistance and early-onset acanthosis nigricans (AN).
  • It presents significant challenges in diagnosis and management due to its rarity and complex metabolic derangements.

Observation:

  • A case study details a 15-month-old girl with widespread AN, growth retardation, dysmorphic features, and hypertrichosis.
  • Fasting hypoglycemia and hyperinsulinemia were noted, but the oral glucose tolerance test (OGTT) was normal.
  • Whole-exome sequencing identified two novel mutations in the insulin receptor gene (INSR).

Findings:

  • Two novel mutations, c.3392 C>G (missense/frameshift) in exon 19 and c.4007_4010delAGAG (deletion) in exon 22 of the INSR gene, were discovered.
  • These mutations are associated with the severe insulin resistance phenotype observed in the patient.
  • The findings highlight the critical role of the insulin receptor in metabolic homeostasis.

Implications:

  • Acanthosis nigricans serves as a vital clinical indicator for underlying metabolic syndromes, including RMS.
  • Genetic analysis of the INSR gene is essential for confirming the diagnosis of RMS.
  • Early and accurate diagnosis through genetic testing can guide timely therapeutic interventions and improve patient outcomes.
Abstract

Keywords:
INSR geneRabson-Mendenhall syndromeacanthosis nigricansacanthosis nigricans (AN)case report

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