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Mustafa M, Moghrabi N, Bin-Abbas B. Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?. Case Rep Endocrinol. 2014;2014:840492doi: 10.1155/2014/840492.
Mustafa, M., Moghrabi, N., & Bin-Abbas, B. (2014). Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?. Case reports in endocrinology, 2014840492. https://doi.org/10.1155/2014/840492
Mustafa, Manal, et al. "Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?." Case reports in endocrinology vol. 2014 (2014): 840492. doi: https://doi.org/10.1155/2014/840492
Mustafa M, Moghrabi N, Bin-Abbas B. Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?. Case Rep Endocrinol. 2014;2014:840492. doi: 10.1155/2014/840492. Epub 2014 Nov 19. PMID: 25505998; PMCID: PMC4255054.
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Case Rep Endocrinol. 2014;2014:840492. doi: 10.1155/2014/840492. Epub 2014 Nov 19.

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?.

Case reports in endocrinology

Manal Mustafa, Nabil Moghrabi, Bassam Bin-Abbas

Affiliations

  1. Department of Pediatrics, Latifa Hospital, Dubai, UAE.
  2. Molecular Diagnostic Laboratory, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
  3. Department of Pediatrics, King Faisal Specialist Hospital and Research Center, MBC 58, P.O. Box 3354, Riyadh 11211, Saudi Arabia.

PMID: 25505998 PMCID: PMC4255054 DOI: 10.1155/2014/840492

Abstract

FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia. Insulin insensitivity and acanthosis nigricans are uncommonly seen in hypochondroplasia patients with FGFR3 mutations which may represent a new association. We aim to describe the association of hypochondroplasia, acanthosis nigricans, and insulin resistance in a child harboring FGFR3 mutation. To our knowledge, this is the first case report associating the p.N540 with acanthosis nigricans and the second to describe hyperinsulinemia in hypochondroplasia. This finding demonstrates the possible coexistence of insulin insensitivity and acanthosis nigricans in hypochondroplasia patients.

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