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Familial multiple trichoepithelioma

Orpha number ORPHA867
Synonym(s) -
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Childhood
ICD-10
  • D23.3
ICD-O -
OMIM
UMLS
  • C1275122
MeSH
  • C536552
MedDRA -
SNOMED CT
  • 403825008

Summary

Trichoepithelioma is a benign hamartomatous tumor of the pilosebaceous follicle that may occur either as a nonhereditary solitary lesion or as multiple lesions that are often dominantly inherited. The gene for multiple trichoepitheliomas (MTs) has been mapped to a locus 9p21. MTs may represent a syndrome in which tumors develop from undifferentiated germinative cells of the pilosebaseous-apocrine unit. The exact prevalence is unknown. MTs appear to be rather uncommon. They most commonly appear in early childhood or at puberty. They appear as multiple, skin-colored to pink, firm, papulonodular lesions, which are located mainly on the face or, occasionally, on the scalp, the neck and the upper trunk. Trichoepitheliomas gradually increase in number and in size, producing significant cosmetic disfigurement. Malignant transformation to basal cell carcinoma (BCC) is rare and occurs late in the course of the disease. However, BCC associated with MTs is commonly reported. Diagnosis is based on history, clinical examination and it is confirmed by skin biopsy. Treatment is difficult. Surgical excision and various destructive modalities have been tried with occasionally good results. All methods carry significant risk of side-effects, most importantly scarring. Recurrences are common. Long-term vigilance and follow up for BCC development is warranted.

Expert reviewer(s)

  • Dr Evangelia BOZI
  • Dr Alexander C KATOULIS

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