Requena L, Fariña M C, Robledo M, Sangueza O P, Sanchez E, Villanueva A, Marquina A, Tamarit R
Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
Arch Dermatol. 1999 Oct;135(10):1227-35. doi: 10.1001/archderm.135.10.1227.
Infundibulocystic basal cell carcinoma is a recently described distinctive clinicopathologic variant of basal cell carcinoma. Histopathologic differential diagnosis among infundibulocystic basal cell carcinoma, trichoepithelioma, and basaloid follicular hamartoma has generated controversy in the literature.
Members of 2 families with multiple infundibulocystic basal cell carcinomas are described. Each patient showed multiple papular lesions, mostly located on the face. No patient showed palmar pits or jaw cysts. Forty-two cutaneous lesions from 5 patients were studied histopathologically. Thirty-nine lesions were infundibulocystic basal cell carcinomas. This clinicopathologic variant of basal cell carcinoma consists of a relatively well-circumscribed basaloid neoplasm composed of buds and cords of neoplastic cells arranged in anastomosing fashion and with scant stroma. Some of the neoplastic cords contain tiny infundibular cysts filled by cornified cells with abundant melanin. Linkage analysis in family 2 was performed using polymorphic markers (D9S196, D9S280, D9S287, and D9S180), and the affected members shared the same haplotype. Loss of heterozygosity analysis was performed in 2 affected members of this family from whom tumoral DNA was available, and although these individuals were constitutively heterozygous for D9S196, they did not show loss of heterozygosity for this marker in their neoplasms.
Multiple hereditary infundibulocystic basal cell carcinomas represent a distinctive genodermatosis different from multiple hereditary trichoepitheliomas and nevoid basal cell carcinoma syndrome. We propose clinical and histopathologic criteria to distinguish infundibulocystic basal cell carcinoma from trichoepithelioma, basaloid follicular hamartoma, and folliculocentric basaloid proliferation.
漏斗状囊型基底细胞癌是最近描述的一种独特的基底细胞癌临床病理变异型。漏斗状囊型基底细胞癌、毛发上皮瘤和基底样毛囊错构瘤之间的组织病理学鉴别诊断在文献中存在争议。
描述了两个有多发性漏斗状囊型基底细胞癌家族的成员。每位患者均表现为多发丘疹性损害，主要位于面部。无患者出现掌跖凹陷或颌骨囊肿。对5例患者的42个皮肤损害进行了组织病理学研究。39个损害为漏斗状囊型基底细胞癌。这种基底细胞癌的临床病理变异型由一个边界相对清晰的基底样肿瘤组成，该肿瘤由肿瘤细胞的芽和索以吻合方式排列，间质稀少。一些肿瘤索含有微小的漏斗状囊肿，囊肿内充满角化细胞并含有丰富的黑色素。使用多态性标记（D9S196、D9S280、D9S287和D9S180）对家族2进行连锁分析，患病成员共享相同的单倍型。对该家族2名可获得肿瘤DNA的患病成员进行杂合性缺失分析，尽管这些个体在D9S196位点为组成性杂合子，但他们的肿瘤中该标记未显示杂合性缺失。
多发性遗传性漏斗状囊型基底细胞癌是一种独特的遗传性皮肤病，不同于多发性遗传性毛发上皮瘤和痣样基底细胞癌综合征。我们提出了临床和组织病理学标准，以区分漏斗状囊型基底细胞癌与毛发上皮瘤、基底样毛囊错构瘤和毛囊中心性基底样增生。
