Familial cutaneous cylindromas: investigations in five generations of a family

J Am Acad Dermatol. 1995 Aug;33(2 Pt 1):199-206. doi: 10.1016/0190-9622(95)90234-1.


Background: Multiple cutaneous cylindromas are probably inherited in an autosomal dominant way.

Objective: Our purpose was to describe a large family with cutaneous cylindromas, trichoepitheliomas, and milia occurring in five generations and to elucidate further the mode of inheritance.

Methods: We examined 39 family members and obtained information on 31 other members from reports of relatives.

Results: The pedigree included 237 members, 118 male and 119 female, with 30 affected patients (11 male, 19 female). Between 33% and 100% of the children of affected family members had one or more of these skin lesions. Female-to-female, female-to-male, male-to-female, and male-to-male inheritance occurred.

Conclusion: Multiple cutaneous cylindromas are inherited in an autosomal dominant way with variable clinical expression. Penetrance reaches 100% in adult life. This condition is associated with trichoepitheliomas and milia.

Publication types

  • Case Reports

MeSH terms

  • Adenoma / genetics*
  • Adenoma / pathology
  • Adolescent
  • Adult
  • Child
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Neoplasms, Basal Cell / genetics*
  • Neoplasms, Basal Cell / pathology
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / pathology
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / pathology
  • Netherlands / epidemiology
  • Pedigree
  • Skin / pathology
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology