Benign clear cell adnexal proliferation with external root sheath differentiation
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Subtype: Desmoplastic tricholemmoma
Etiology/Pathogenesis
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Some cases are associated with Cowden syndrome (PTEN hamartoma syndrome)
Multiple tricholemmomas, hamartomas, and visceral tumors including breast and thyroid carcinomas
Mutations in
PTEN gene on 10q23.31
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Some have considered TL to be related to HPV infection (“tricholemmal verrucae”), but not well-accepted
Clinical Issues
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Relatively common tumors
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Usually occur in adults, although Cowden syndrome patients present at earlier age
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Most occur on face, especially nose and upper lip
Microscopic
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Lobular proliferation of mature squamoid cells with pale- to clear-staining cytoplasm
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Peripheral palisading of basaloid cells
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Cells are surrounded by thickened, glassy-appearing basement membrane
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Multiple broad connections to epidermis and follicles
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Desmoplastic tricholemmoma
Variant with prominent desmoplastic stroma
Typically in center of tumor, surrounded by conventional-appearing TL
Top Differential Diagnoses
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Tumor of follicular infundibulum
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Clear cell squamous cell carcinoma in situ (clear cell Bowen disease)
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Clear cell basal cell carcinoma
TERMINOLOGY
Abbreviations
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Desmoplastic tricholemmoma (DTL)
Definitions
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Benign clear cell adnexal proliferation with external root sheath differentiation
ETIOLOGY/PATHOGENESIS
Unknown in Most Cases
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Some have considered TL to be related to HPV infection (“tricholemmal verrucae”)
Not generally accepted, and most PCR studies for HPV have been negative
Genetic
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Some cases are associated with Cowden syndrome (PTEN hamartoma syndrome)
Characterized by multiple tricholemmomas, hamartomas, and visceral tumors including breast and thyroid carcinomas
Mutations in
PTEN, a tumor suppressor gene, on 10q23.31
CLINICAL ISSUES
Epidemiology
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Incidence
Relatively common tumors
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Age
Usually adults, although Cowden syndrome patients present at earlier age
Site
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Most occur on face, especially nose and upper lip
Presentation
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Small papular lesion
Usually flesh-colored
Often clinically mimics basal cell carcinoma or verruca