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: Susan Simpkin, Duncan Lamont, Anthony Yung
• Journal: The Australasian journal of dermatology (Australas J Dermatol) Vol. 54 Issue 3 Pg. e74-7 (Aug 2013) ISSN: 1440-0960 [Electronic] Australia
• PMID: 22758773 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2012 The Authors Australasian Journal of Dermatology © 2012 The Australasian College of Dermatologists.

Chemical References

• Receptors, Transforming Growth Factor beta
• Protein Serine-Threonine Kinases
• Receptor, Transforming Growth Factor-beta Type I
• TGFBR1 protein, human

Topics

• Adult
• Carcinoma (genetics, pathology, surgery)
• Carcinoma, Squamous Cell (diagnosis)
• Diagnosis, Differential
• Facial Neoplasms (genetics, pathology, surgery)
• Female
• Humans
• Immunohistochemistry
• Keratoacanthoma (genetics, pathology, surgery)
• Protein Serine-Threonine Kinases (genetics)
• Receptor, Transforming Growth Factor-beta Type I
• Receptors, Transforming Growth Factor beta (genetics)
• Skin Neoplasms (genetics, surgery)