A puzzling case: SCC or not?

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Abstract

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.

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