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Trichoepithelioma
Journal article   Open access   Peer reviewed

Trichoepithelioma

Hillary Johnson, Mirin Robles, Hideko Kamino, Ruth F Walters, Arnold Lee and Miguel Sanchez
Dermatology online journal, Vol.14(10), 5
10/15/2008
DOI: 10.5070/D3862492p4
PMID: 19061604
url
https://doi.org/10.5070/D3862492p4View
Published (Version of record) Open Access

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

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