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Isolation and Characterization of a Head and Neck Squamous Cell Carcinoma Subpopulation Having Stem Cell Characteristics
11:28

Isolation and Characterization of a Head and Neck Squamous Cell Carcinoma Subpopulation Having Stem Cell Characteristics

Published on: May 11, 2016

A puzzling case: SCC or not?

Susan Simpkin1, Duncan Lamont, Anthony Yung

  • 1Department of Dermatology, Waikato Hospital, Pembroke St., Hamilton, New Zealand. susansimpkin@gmail.com

The Australasian Journal of Dermatology
|July 5, 2012
PubMed

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.

Keywords:
Ferguson-Smith diseaseMuirTorre syndromekeratoacanthomamultiple self-healing squamous epitheliomatasquamous cell carcinomatransforming growth factor ß receptor 1

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