Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria. (8th November 2012)

• Record Type: Journal Article
• Authors: Seidenari, S; Pellacani, G; Nasti, S; Tomasi, A; Pastorino, L; Ghiorzo, P; Ruini, C; Bianchi‐Scarrà, G; Pollio, A; Mandel, VD; Ponti, G
• Is Part Of: Clinical genetics. Volume 84:Number 1(2013:Jul.)
• Page Start: 65
• Page End: 69
• Publication Date: 2012-11-08
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12040
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 &lt;45 years; and (iii) the diagnosis of multiple or giant (&gt;5‐cm lesions) or rare histopathologic features (proliferating and ossifying) TCs.</p> </abstract>