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Peer-reviewedCC BYOxford medical case reports

Probable Rabson-Mendenhall syndrome presenting with acanthosis nigricans: a case report.

  • Mira Akhras1
  • Mohammad Hmaidan1
  • Rahaf Ghazal1
  • Asad Alebrahem2
  • Nemat Alsaghir1
  1. 1Department of Dermatology, Faculty of Medicine, Damascus University, Damascus, Syria.
  2. 2Department of Pediatrics, Faculty of Medicine, Damascus University, Damascus, Syria.
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Abstract

Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder caused by mutations in the insulin receptor gene (INSR), resulting in severe insulin resistance. We report the case of an 8-year-old boy who presented with progressive acanthosis nigricans of the neck, coarse facial features, generalized hypertrichosis, dental abnormalities, a fissured tongue, thickened nails, penile hypertrophy, and hepatomegaly. Laboratory results indicated hyperinsulinemia, severe insulin resistance and fasting hypoglycemia. Based on the clinical and laboratory findings, Rabson-Mendenhall syndrome was considered. Genetic confirmation was not performed because it was unavailable in our country. This case highlights the importance of recognizing acanthosis nigricans as a clinical marker of inherited metabolic syndromes, and the important role of dermatologists in its early recognition.

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Cite

BibTeXRIS
BibTeX
@article{akhras2026probable,
  title = {{Probable Rabson-Mendenhall syndrome presenting with acanthosis nigricans: a case report.}},
  author = {Mira Akhras and Mohammad Hmaidan and Rahaf Ghazal and Asad Alebrahem and Nemat Alsaghir},
  journal = {Oxford medical case reports},
  year = {2026},
  month = oct,
  doi = {10.1093/omcr/omag199},
  url = {https://europepmc.org/article/MED/42928893},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Probable Rabson-Mendenhall syndrome presenting with acanthosis nigricans: a case report.
AU  - Mira Akhras
AU  - Mohammad Hmaidan
AU  - Rahaf Ghazal
AU  - Asad Alebrahem
AU  - Nemat Alsaghir
PY  - 2026
DA  - 2026/10/25
JO  - Oxford medical case reports
DO  - 10.1093/omcr/omag199
UR  - https://europepmc.org/article/MED/42928893
AB  - Rabson-Mendenhall syndrome (RMS) is a rare autosomal recessive disorder caused by mutations in the insulin receptor gene (INSR), resulting in severe insulin resistance. We report the case of an 8-year-old boy who presented with progressive acanthosis nigricans of the neck, coarse facial features, generalized hypertrichosis, dental abnormalities, a fissured tongue, thickened nails, penile hypertrophy, and hepatomegaly. Laboratory results indicated hyperinsulinemia, severe insulin resistance and fasting hypoglycemia. Based on the clinical and laboratory findings, Rabson-Mendenhall syndrome was considered. Genetic confirmation was not performed because it was unavailable in our country. This case highlights the importance of recognizing acanthosis nigricans as a clinical marker of inherited metabolic syndromes, and the important role of dermatologists in its early recognition.
SN  - 2053-8855
ER  -