Department of Dermatology, Waikato Hospital, Pembroke St., Hamilton, New Zealand.
Australas J Dermatol. 2013 Aug;54(3):e74-7. doi: 10.1111/j.1440-0960.2012.00919.x. Epub 2012 Jul 3.
We present a 37-year-old woman who underwent extensive facial surgery for removal of multiple eruptive squamous cell carcinoma (SCC)-like lesions resembling invasive SCC histologically. The patient's mother had undergone numerous surgical procedures and radiotherapy for facial SCC. A review of the histology and immunohistochemistry for DNA mismatch repair proteins excluded Muir-Torre syndrome. A diagnosis of Ferguson-Smith disease (or multiple self-healing squamous epitheliomata) was suspected. Blood was sent for DNA analysis. Twelve months later, mutations of the TGFBR1 gene were demonstrated in 18 families (67 individuals) with Ferguson-Smith disease; among whom our patient and her mother were family 11.
我们报告了一位 37 岁女性，她因多发性爆发性鳞状细胞癌（SCC）样病变而接受了广泛的面部手术，这些病变在组织学上类似于侵袭性 SCC。该患者的母亲曾因面部 SCC 接受过多次手术和放疗。对组织病理学和 DNA 错配修复蛋白的免疫组化检查排除了 Muir-Torre 综合征。疑似诊断为 Ferguson-Smith 病（或多发性自限性鳞状上皮瘤）。送血样进行 DNA 分析。12 个月后，在 Ferguson-Smith 病的 18 个家族（67 人）中发现了 TGFBR1 基因突变；其中包括我们的患者及其母亲所在的家族 11。
