Incontinencia pigmentiCuatro pacientes con diferentes manifestaciones clínicas

  1. I. Llano Rivas
  2. T. Soler Sánchez
  3. I. Málaga-Diéguez
  4. Joaquín Fernández Toral
Revista:
Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

ISSN: 1695-4033 1696-4608

Año de publicación: 2012

Volumen: 76

Número: 3

Páginas: 156-160

Tipo: Artículo

Otras publicaciones en: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP )

Resumen

Abstract Incontinentia pigmenti (IP) is a rare neurocutaneous disorder with a frequency of 1 in 50,000 newborn, and is associated with mutations in IKBKG gene (NEMO) in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with 3 well established sequential or overlapped states and each with a characteristic differential diagnosis. With PCR+RFLPs, we analyzed the IKBKG gene in 4 patients with different clinical manifestations and characteristic skin biopsy. In all 4 patients the same deletion of exons 4 to 10 was identified. In female patients in whom the dermatological lesions lead to the suspicion of an IP diagnosis, it is important to have the complete, multidisciplinary and molecular analysis of their first level female relatives. This should give us a clear diagnosis, which is the first step to complete genetic counselling.