Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria.
Trichilemmal cysts (TCs) can occur as sporadic lesions or in hereditary-familial settings with autosomal dominant transmission. These entities have not been widely analyzed in their peculiar aspects yet. The aim of this study was to describe a cohort of patients with diagnosis of TCs through a clinical and biomolecular characterization, intended to highlight some effective diagnostic criteria for their identification. Among 149 cases of this study, 24 cases of TCs (16.1%) arose in patients with at least one first-degree relative with diagnosis of TCs. Peculiar findings concerning hereditary lesions included the multiple presentation with an early onset age. On the basis of clinical evaluation, we propose a panel of clinical and histologic criteria for the diagnosis of hereditary TCs, which includes: (i) the diagnosis of TCs in at least two first-degree relatives or in three first- or second-degree relatives in two consecutive generations; (ii) at least one of the patients with TCs diagnosed <45 years; and (iii) the diagnosis of multiple or giant (>5-cm lesions) or rare histopathologic features (proliferating and ossifying) TCs.
Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy.
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Seidenari
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Pellacani
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Nasti
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Tomasi
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Pastorino
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Ghiorzo
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Ruini
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Bianchi-Scarrà
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Pollio
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Mandel
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Ponti
D000328:Adult; D000368:Aged; D001483:Base Sequence; D004814:Epidermal Cyst; D005091:Exons; D005260:Female; D005497:Follicular Cyst / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006201:Hair Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D040582:Inheritance Patterns; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D000072079:Patched Receptors; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*
D000072079:Patched Receptors; D011956:Receptors, Cell Surface