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Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the FGFR3 gene?

L Castro-Feijoo, Unidad de Endocrinologia Pediatrica, Crecimiento y Adolescencia Departamento de Pediatria, Hospital Clinico Universitario y Universidad de Santiago de Compostela, Santiago de Compostela, Spain
L Loidi, Santiago de Compostela, Spain
A Vidal, Fisiologia, Universidad de Santiago de Compostela, Santiago de Compostela , Spain
S Parajes, Unidad de Medicina Molecular, Fundacion Publica Galega de Medicina Xenomica, Santiago de Compostela , Spain
E Roson, Dermatologia, Complejo Hospitalario de Pontevedra, Pontevedra, Spain
A Alvarez, Radiologia, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain
P Cabanas, Santiago de Compostela, Spain
J Barreiro, Unidad de Endocrinologia Pediatrica, Crecimiento y Adolescencia Departamento de Pediatria, Hospital Clinico Universitario y Universidad de Santiago de Compostela, Santiago de Compostela, Spain
A Alonso, Santiago de Compostela, Spain
F Dominguez, Fisiologia, Universidad de Santiago de Compostela, Santiago de Compostela, Spain
M Pombo, Unidad de Endocrinologia Pediatrica, Crecimiento y Adolescencia Departamento de Pediatria, Hospital Clinico Universitario y Universidad de Santiago de Compostela, Santiago de Compostela, Spain

Correspondence: Lidia Castro-Feijoo, Email: lidia.castro.feijoo{at}sergas.es

Abstract

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 papilomatous 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: A clinical, biochemical and radiological study was performed on the family. In addition, exon 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.