Department of Oral Surgery, Pathology and Clinical Dentistry, School of Dentistry, Universidade Federal de Minas Gerais, Av. Pres. Antônio Carlos, 6627, room 3202 D. Pampulha, Belo Horizonte, Belo Horizonte, MG, Brazil.
Department of Oral Diagnosis and Pathology, School of Dentistry, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
Head Neck Pathol. 2023 Dec;17(4):1071-1074. doi: 10.1007/s12105-023-01586-2. Epub 2023 Sep 21.
A 56-year-old Brazilian woman sought dental care, presenting with multiple asymptomatic papillomatous lesions with a coalescent pattern and intermingled cobblestone-like clefts along the alveolar ridge and marginal and attached gingivae. Multiple whitish papules were also observed on the face, neck, and limbs. Incisional biopsies of these lesions were performed. Microscopically, the skin lesion revealed epithelial clear cells and intraepithelial keratinization with areas of orthokeratosis, while the gingival lesions showed a parakeratinized stratified squamous epithelium with collagenous connective tissue. These features were consistent with those of a trichilemmoma and fibroepithelial hyperplasia, respectively. This article illustrates a case of Cowden syndrome (CS), a rare multisystem genetic condition in which both cutaneous and mucosal tissues were affected. Fewer than 40 cases of CS with oral involvement affecting middle-aged adults have been documented hitherto.
一位 56 岁的巴西女性因多发性无症状乳头状病变就诊，病变呈融合模式，沿牙槽嵴和边缘及附着龈散布鹅卵石样裂隙，颊部、颈部和四肢也可见多发性白色丘疹。对这些病变进行了切开活检。显微镜下，皮肤病变显示上皮透明细胞和上皮内角化，伴有正角化区，而牙龈病变显示角化不全的复层鳞状上皮和胶原结缔组织。这些特征分别与毛发上皮瘤和纤维上皮性增生一致。本文介绍了一例 Cowden 综合征（CS），这是一种罕见的多系统遗传性疾病，影响皮肤和黏膜组织。迄今为止，仅有不到 40 例 CS 累及口腔的中年患者的病例报道。
