title: A puzzling case: SCC or not?
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.
authors: Department of Dermatology, Waikato Hospital, Pembroke St., Hamilton, New Zealand. susansimpkin@gmail.com
authors: Susan
authors: S
authors: Simpkin
authors: Duncan
authors: D
authors: Lamont
authors: Anthony
authors: A
authors: Yung
mesh_terms: D000328:Adult; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D002294:Carcinoma, Squamous Cell / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005153:Facial Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D007636:Keratoacanthoma / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000601:surgery
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human