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

Authors

  • S Seidenari,

    1. Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
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  • G Pellacani,

    1. Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
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  • S Nasti,

    1. Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy
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  • A Tomasi,

    1. Department of Clinical and Diagnostic Medicine and Public Health, Division of Clinical Pathology, University Hospital of Modena and Reggio Emilia, Modena, Italy
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  • L Pastorino,

    1. Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy
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  • P Ghiorzo,

    1. Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy
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  • C Ruini,

    1. Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
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  • G Bianchi-Scarrà,

    1. Department of Internal Medicine and Medical Specialties (DiMI), University of Genoa, Genoa, Italy
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  • A Pollio,

    1. Oral Medicine Unit, Department of Odontostomatological and Maxillofacial Sciences, School of Medicine and Surgery, Federico II University of Naples, Naples, Italy
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  • VD Mandel,

    1. Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
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  • G Ponti

    Corresponding author
    1. Department of Clinical and Diagnostic Medicine and Public Health, Division of Clinical Pathology, University Hospital of Modena and Reggio Emilia, Modena, Italy
    • Department of Surgical, Medical, Odontoiatric and Morphological Sciences, University of Modena and Reggio Emilia, Modena, Italy
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  • The authors declare that they have no conflict of interest.

Corresponding author: Dr Giovanni

Ponti, Department of Clinical and

Diagnostic Medicine and Public Health,

University Hospital of Modena and

Reggio Emilia, University of Modena and Reggio Emilia, via del Pozzo,

71, 41100 Modena, Italy.

Tel.: +059 42 24748;

fax: +059 42 24271;

e-mail: giovanni.ponti@unimore.it

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.

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