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