Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report
BackgroundRabson-Mendenhall Syndrome (RMS), a rare hereditary form of insulin resistance, is marked by severe hyperinsulinemia and early-onset acanthosis nigricans (AN) during childhood.Case presentationA case of a 15-month-old girl was reported, presenting with widespread acanthosis nigricans, grow...
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Frontiers Media S.A.
2025-04-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1511429/full |
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| author | Shi Yan Yu Sheng Hai-zhen Hui Chun-yan Zhou De-ming Liu |
| author_facet | Shi Yan Yu Sheng Hai-zhen Hui Chun-yan Zhou De-ming Liu |
| author_sort | Shi Yan |
| collection | DOAJ |
| description | BackgroundRabson-Mendenhall Syndrome (RMS), a rare hereditary form of insulin resistance, is marked by severe hyperinsulinemia and early-onset acanthosis nigricans (AN) during childhood.Case presentationA 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.ConclusionAcanthosis nigricans (AN) can serve as a clinical marker that strongly suggests underlying metabolic syndromes, making genetic analysis essential for confirming the diagnosis. |
| format | Article |
| id | doaj-art-e70f69841c164f4ba99e154b54a45814 |
| institution | OA Journals |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-e70f69841c164f4ba99e154b54a458142025-08-20T02:26:26ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-04-011310.3389/fped.2025.15114291511429Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case reportShi Yan0Yu Sheng1Hai-zhen Hui2Chun-yan Zhou3De-ming Liu4Chongqing 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, ChinaChongqing 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, ChinaChongqing 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, ChinaGeneral Surgery, Chongqing Traditional Chinese Medicine Hospital/The First Affiliated Hospital of Chongqing College of Traditional Chinese Medicine, Chongqing, ChinaChongqing 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, ChinaBackgroundRabson-Mendenhall Syndrome (RMS), a rare hereditary form of insulin resistance, is marked by severe hyperinsulinemia and early-onset acanthosis nigricans (AN) during childhood.Case presentationA 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.ConclusionAcanthosis nigricans (AN) can serve as a clinical marker that strongly suggests underlying metabolic syndromes, making genetic analysis essential for confirming the diagnosis.https://www.frontiersin.org/articles/10.3389/fped.2025.1511429/fullINSR geneRabson-Mendenhall syndromeacanthosis nigricanscase reportacanthosis nigricans (AN) |
| spellingShingle | Shi Yan Yu Sheng Hai-zhen Hui Chun-yan Zhou De-ming Liu Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report Frontiers in Pediatrics INSR gene Rabson-Mendenhall syndrome acanthosis nigricans case report acanthosis nigricans (AN) |
| title | Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report |
| title_full | Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report |
| title_fullStr | Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report |
| title_full_unstemmed | Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report |
| title_short | Rabson-Mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the INSR gene: a case report |
| title_sort | rabson mendenhall syndrome presented as severe acanthosis nigricans in an infant harboring novel mutations in the insr gene a case report |
| topic | INSR gene Rabson-Mendenhall syndrome acanthosis nigricans case report acanthosis nigricans (AN) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1511429/full |
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