[Crouzon's syndrome with acanthosis nigricans].
Crouzon's syndrome is a complex craniosynostosis disorder due to mutations in fibroblast growth factor receptor (FGFR) type 2. We report a female patient with Crouzon's syndrome associated with acanthosis nigricans. The molecular abnormality in this patient is a point mutation (Ala391Glu) in the transmembrane domain of another FGFR (type 3), which is very close to the mutation (Gly380Arg) most frequently observed in achondroplasia. Acanthosis nigricans is an emerging disorder. Its clinical features and molecular findings differ from those of isolated Crouzon's syndrome. These data are very useful when molecular tests are required for prenatal diagnosis.
Lapunzina
P
P
Laboratorio de Biología Molecular, Hospital Universitario La Paz, Madrid, Spain. plapunzina@hulp.insalud.es
Fernández
M C
MC
Varela Junquera
J M
JM
Arberas
C
C
Tello
A M
AM
Gracia Bouthelier
R
R
D000052:Acanthosis Nigricans / Q000150:complications* / Q000175:diagnosis; D001921:Brain / Q000000981:diagnostic imaging; D003394:Craniofacial Dysostosis / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D016222:Fibroblast Growth Factor 2 / Q000235:genetics; D051518:Fibroblast Growth Factor 3; D005346:Fibroblast Growth Factors / Q000235:genetics; D006801:Humans; D007223:Infant; D017354:Point Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D014057:Tomography, X-Ray Computed
C496444:FGF3 protein, human; D051518:Fibroblast Growth Factor 3; D011518:Proto-Oncogene Proteins; D017468:Receptors, Fibroblast Growth Factor; D016222:Fibroblast Growth Factor 2; D005346:Fibroblast Growth Factors
Síndrome de Crouzon con acantosis nigricans.