Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin.
Am J Med Genet
; 110(2): 164-9, 2002 Jun 15.
Article
em En
| MEDLINE
| ID: mdl-12116255
We report on a girl with maxillary hypoplasia, prominent ears, dry sparse hair, palmar and plantar keratoderma, dystrophic nails, patchy pigmented skin lesions in hands and feet and bilateral Wilms tumor. She was born with bilateral ankyloblepharon. The mother and maternal grandmother presented similar ectodermal defects. Skin biopsies of the patient and her mother proved to contain cells overexpressing p63 by immunohistochemistry. Karyotypes of the patient and her mother, and FISH studies on lymphocytes and tumor cells of the girl demonstrated a mosaic 11p15.5 deletion. These findings suggest a relationship between familial ankyloblepharon, ectodermal defects and cleft lip and palate (AEC) syndrome (Hay-Wells syndrome) and familial reticulate pigmentation of the skin. In addition the development of Wilms tumor and 11p15.5 region involvement expand the genetic relationship between these conditions and the enlarging group of genetic entities related to nephroblastoma.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Pigmentação
/
Anormalidades Múltiplas
/
Displasia Ectodérmica
/
Tumor de Wilms
/
Neoplasias Renais
Tipo de estudo:
Risk_factors_studies
Limite:
Child, preschool
/
Female
/
Humans
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Argentina
País de publicação:
Estados Unidos