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A puzzling case: SCC or not?
Author(s) -
Simpkin Susan,
Lamont Duncan,
Yung Anthony
Publication year - 2013
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2012.00919.x
Subject(s) - medicine , basal cell , histology , immunohistochemistry , surgery , pathology
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 M uir– T orre syndrome. A diagnosis of F erguson‐ S mith disease (or multiple self‐healing squamous epitheliomata) was suspected. Blood was sent for DNA analysis. Twelve months later, mutations of the TGFBR 1 gene were demonstrated in 18 families (67 individuals) with F erguson‐ S mith disease; among whom our patient and her mother were family 11.