Table of Contents Author Guidelines Submit a Manuscript
Case Reports in Endocrinology
Volume 2014 (2014), Article ID 840492, 6 pages
Case Report

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

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

Received 7 July 2014; Revised 28 October 2014; Accepted 30 October 2014; Published 19 November 2014

Academic Editor: Carlo Capella

Copyright © 2014 Manal Mustafa et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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.