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Vol. 56. Núm. 4.
Páginas 342-346 (Abril 2002)
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Vol. 56. Núm. 4.
Páginas 342-346 (Abril 2002)
DOI: 10.1016/S1695-4033(02)77814-4
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Síndrome de Crouzon con acantosis nigricans
Crouzon's syndrome with acanthosis nigricans
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P. Lapunzinaa,
Autor para correspondencia
plapunzina@hulp.insalud.es

Correspondencia: Servicio de Genética. Hospital Universitario La Paz. P.° de la Castellana, 261. 28046 Madrid
, M.aC. Fernándezb, J.M. Varela Junqueraa, C. Arberasb, A.M.a Tellob, R. Gracia Bouthelierc
a Laboratorio de Biología Molecular. Hospital Universitario La Paz. Madrid.
b Servicio de Genética. Hospital de Niños Ricardo Gutiérrez. Buenos Aires. Argentina.
c Servicio de Endocrinología. Hospital Universitario La Paz. Madrid
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Bibliografía
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Estadísticas

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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Bibliografía
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