Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): belong the nervous tumours to the phenotype?

Eur J Med Genet. 2008 Sep-Oct;51(5):436-43. doi: 10.1016/j.ejmg.2008.05.004. Epub 2008 May 28.

Abstract

Familial leukonychia with sebaceous cysts is a rare autosomal dominant genetic condition, previously reported in four families. Molecular basis of the disorder is unknown. We report on a five-generation family with subtotal leukonychia and sebaceous cysts. Six individuals were affected, five women and one boy. One of the women exhibited a cervical ependymoma and bilateral multiple inoperable acoustic neuromas. These tumours have never been reported in association with leukonychia and may represent an uncommon severe complication of the syndrome.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology
  • Deafness / diagnosis
  • Deafness / genetics
  • Epidermal Cyst / diagnosis
  • Epidermal Cyst / genetics*
  • Family Health
  • Female
  • Humans
  • Male
  • Nails, Malformed / diagnosis
  • Nails, Malformed / genetics*
  • Nervous System Neoplasms / diagnosis
  • Nervous System Neoplasms / genetics
  • Neuroma / diagnosis
  • Neuroma / genetics*
  • Pedigree
  • Syndrome