Abstract
This case study describes a unique incidence of multiple trichoepitheliomas in combination with epidermoid cysts of the vulva in association with a novel pathogenic mutation in CYLD, extending the phenotypic spectrum.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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DNA / genetics*
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DNA Mutational Analysis
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Epidermal Cyst / diagnosis
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Epidermal Cyst / genetics*
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Female
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Genetic Testing
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Humans
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Mutation*
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Neoplastic Syndromes, Hereditary / diagnosis
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Neoplastic Syndromes, Hereditary / genetics*
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Phenotype
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Skin Neoplasms / diagnosis
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Skin Neoplasms / genetics*
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Vulvar Diseases / diagnosis
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Vulvar Diseases / genetics*
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Young Adult