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Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Unidad de Endocrinología PediátricaCrecimiento y Adolescencia, Departamento de Pediatría, Hospital Clínico Universitario y Universidad de Santiago de Compostela, 15706 Santiago de Compostela, Spain¹ Unidad de Medicina MolecularFundación Pública Galega de Medicina Xenómica, 15706 Santiago de Compostela, Spain² Departamento de FisiologíaUniversidad de Santiago de Compostela, 15702 Santiago de Compostella, Spain³ Servicio de DermatologíaComplejo Hospitalario de Pontevedra, 36001 Pontevedra, Spain⁴ Servicio de RadiologíaHospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain

(Correspondence should be addressed to M Pombo; Email: manuelarturo.pombo{at}usc.es)

^* L Castro-Feijóo and L Loidi contributed equally to this work

Background: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene.

Objective and design: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient's mother and to 12 additional family members.

Methods: Clinical, biochemical and radiological studies were performed on the family. In addition, exons 11 and 13 of FGFR3 were analyzed.

Results: The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. The members with normal phenotypes were non-carriers of the mutation.

Conclusion: This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex, which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN.