Bilateral nephroblastoma in familial Hay-Wells syndrome associated with familial reticulate pigmentation of the skin

Am J Med Genet. 2002 Jun 15;110(2):164-9. doi: 10.1002/ajmg.10424.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child, Preschool
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11 / genetics
  • Ectodermal Dysplasia / pathology*
  • Family Health
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Kidney Neoplasms / pathology*
  • Pigmentation Disorders / pathology*
  • Skin / pathology
  • Syndrome
  • Wilms Tumor / pathology*