Síndrome de Crouzon con acantosis nigricans

Lapunzina, P.; Fernández, M.aC.; Varela Junquera, J.M.; Arberas, C.; Tello, A.M.a; Gracia Bouthelier, R.

doi:10.1016/S1695-4033(02)77814-4

Anales de Pediatría (English Edition)

ISSN: 2341-2879

The Spanish Pediatric Association (Asociación Española de Pediatría, AEP) has as one of its main objectives the dissemination of rigorous and up-to-date scientific information on the various areas of pediatrics. Annals of Pediatrics is an open access journal that serves as the Association's Scientific Expression Organ and constitutes the vehicle through which members communicate. Annals of Pediatrics publishes, in English and Spanish, original research papers on pediatrics, as well as review articles prepared by experts in each specialty, and guidelines or positioning documents prepared by the different Societies/Specialized Sections integrated into the Spanish Pediatric Association. The journal, a reference for Spanish-speaking pediatrics, is indexed in the most important international databases: Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ).

Indexed in:

Index Medicus/Medline IBECS, IME, SCOPUS, Science Citation Index Expanded, Journal Citations Report, Embase/Excerpta Medica, Directory of Open Access Journals (DOAJ)

El síndrome de Crouzon es una craneosinostosis com-pleja debida a mutaciones en el receptor del factor de crecimiento fibroblástico (FGFR) tipo 2. Se presenta una paciente de sexo femenino con la asociación de síndrome de Crouzon más acantosis nigricans (CAN). El estudio molecular mostró una mutación puntual (Ala391Glu) en el dominio transmembrana de otro FGFR, el tipo 3 (FGFR3) (a escasas bases de distancia de la mutación más frecuente de acondroplasia, la Gly380Arg).

El síndrome de CAN es una entidad recientemente des-crita, cuya clínica y alteración molecular es diferente a la del síndrome de Crouzon. Estas diferencias son importantes cuando es necesario establecer una estrategia para realizar estudios moleculares y para el diagnóstico prenatal de esta entidad.

Palabras clave:

Síndrome de Crouzon

Craniosi-nostosis Cranioestenosis FGFR3

Mutación puntual

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.

Keywords:

Crouzon's syndrome

Acanthosis nigricans

Craniosynostosis Craniostenosis FGFR3 Point mutation

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