Trichoepithelioma

Dermatol Online J. 2008 Oct 15;14(10):5.

Abstract

A 29-year-old man presented with a long-standing history of asymptomatic, skin-colored, facial papules and nodules. Histopathologic examination of a representative papule demonstrated trichoepithelioma. The patient had a history of a brother with a similar phenotype, which suggests a diagnosis of familial trichoepithelioma. Linkage and mutational analyses support genetic heterogeneity of familial trichoepithelioma, possibly sharing a clinical spectrum with Brooke-Spiegler syndrome and familial cylindromatosis since each entity has been associated with mutations the CYLD gene.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Carcinoma, Adenoid Cystic / genetics
  • Deubiquitinating Enzyme CYLD
  • Facial Neoplasms / diagnosis*
  • Facial Neoplasms / genetics
  • Facial Neoplasms / pathology
  • Genes, Tumor Suppressor
  • Genetic Heterogeneity
  • Humans
  • Male
  • Neoplasms, Basal Cell / diagnosis*
  • Neoplasms, Basal Cell / genetics
  • Neoplasms, Basal Cell / pathology
  • Neoplasms, Multiple Primary / diagnosis*
  • Neoplasms, Multiple Primary / genetics
  • Neoplasms, Multiple Primary / pathology
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / pathology
  • Phenotype
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics
  • Tumor Suppressor Proteins / physiology

Substances

  • Tumor Suppressor Proteins
  • CYLD protein, human
  • Deubiquitinating Enzyme CYLD