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.

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria / Seidenari, Stefania; Pellacani, Giovanni; Nasti, Sabina; Tomasi, Aldo; Pastorino, Lorenza; Ghiorzo, Paola; Ruini, Cristel; Bianchi-Scarrà, Giovanna; Pollio, Annamaria; Mandel, Victor Desmond; Ponti, Giovanni. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 84:1(2013), pp. 65-69. [10.1111/cge.12040]

Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria

SEIDENARI, Stefania;PELLACANI, Giovanni;TOMASI, Aldo;RUINI, Cristel;MANDEL, Victor Desmond;PONTI, Giovanni
2013

Abstract

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.
8-nov-2012
84
1
65
69
Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria / Seidenari, Stefania; Pellacani, Giovanni; Nasti, Sabina; Tomasi, Aldo; Pastorino, Lorenza; Ghiorzo, Paola; Ruini, Cristel; Bianchi-Scarrà, Giovanna; Pollio, Annamaria; Mandel, Victor Desmond; Ponti, Giovanni. - In: CLINICAL GENETICS. - ISSN 0009-9163. - STAMPA. - 84:1(2013), pp. 65-69. [10.1111/cge.12040]
Seidenari, Stefania; Pellacani, Giovanni; Nasti, Sabina; Tomasi, Aldo; Pastorino, Lorenza; Ghiorzo, Paola; Ruini, Cristel; BIANCHI-SCARRÀ, Giovanna; Pollio, Annamaria; Mandel, Victor Desmond; Ponti, Giovanni
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/916298
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