The authors declare that they have no conflict of interest.
Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria
Article first published online: 8 NOV 2012
© 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 1, pages 65–69, July 2013
How to Cite
Hereditary trichilemmal cysts: a proposal for the assessment of diagnostic clinical criteria., , , , , , , , , , .
- Issue published online: 9 JUN 2013
- Article first published online: 8 NOV 2012
- Accepted manuscript online: 15 OCT 2012 03:55AM EST
- Manuscript Revised: 9 OCT 2012
- Manuscript Accepted: 9 OCT 2012
- Manuscript Received: 8 JUL 2012
- diagnostic clinical criteria;
- hereditary trichilemmal cysts;
- pilar cysts;
- PTCH1 mutation
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.