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Fordyce granules and hyperplastic mucosal sebaceous glands as distinctive stigmata in Muir–Torre syndrome patients: characterization with reflectance confocal microscopy
Author(s) -
Ponti Giovanni,
Meschieri Andrea,
Pollio Annamaria,
Ruini Cristel,
Manfredini Marco,
Longo Caterina,
Mandel Victor D.,
Ciardo Silvana,
Tomasi Aldo,
Giannetti Luca,
Pellacani Giovanni
Publication year - 2015
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/jop.12256
Subject(s) - pathology , oral mucosa , hyperplastic polyp , medicine , gene mutation , mutation , biology , gene , cancer , colorectal cancer , genetics , colonoscopy
Background The Muir–Torre syndrome ( MTS ), a variant of Lynch syndrome ( LS ), is characterized by the presence of sebaceous skin adenomas and/or carcinomas and keratoacanthomas associated with visceral malignancies. Fordyce granules ( FG s) are oral mucosal lesions previously found in association with LS . The aim of this study was to analyze the specific frequency of FG s in sporadic individuals and gene carriers patients with MTS of known mismatch repair genes mutations. The secondary aim was to characterize FG s by means of reflectance confocal microscopy ( RCM ). Methods A total of 13 patients belonging to nine different genetically unrelated MTS kindreds ( MLH 1 gene mutation n = 2; MSH 2 gene mutation n = 11) and 140 genetically unrelated healthy controls were examined. Depending on the clinical examination of the oral mucosa surface, subjects were categorized as either FG s positive or FG s negative. Results FG s were diagnosed in 13 of 13 (100%) of MMR gene carriers patients with MTS vs. 9 of 140 (6.4%) controls. The most common site for FG s in MTS was the vestibular oral mucosa, compared with the gingival mandibular and retromandibular pad in controls. RCM examination found multiple sebaceous acinar cells that appear as round or oval hyper‐refractive globules and that create a lobular aspects of the sebaceous glands defined as ‘moruliform’ or ‘berry‐like’ structures. Conclusions Clinical and RCM evidences of our study suggest that an activation of the sebaceous glands system occurs in patients with MTS . Fordyce granules and intra‐oral sebaceous hyperplasia may constitute an additional clinical parameter, which may be adopted to distinguish individuals with highest likelihood of being affected from MTS .