Ferguson-Smith disease is a rare autosomal dominant skin disorder characterized by the appearance of multiple keratocanthomas mostly on the head, which slowly involute and periodically reappear. Most affected individuals are of Scottish ancestry. These lesions can histologically resemble squamous cell carcinomas. Our patient, a 61-year-old female of Scottish ancestry, was diagnosed with recurrent squamous cell carcinomas involving the lip and perioral areas over a 24-year period. Her treatment included both radiotherapy and surgical excision for these lesions. Last year, both our patient and her daughter were identified as carriers of a mutation in the TGFBR1 gene, p.R80X, specifically linked to Ferguson-Smith disease. If this diagnosis had been made earlier, our patient would likely have not undergone extensive radiotherapy causing her significant disfigurement that warranted extensive reconstructive surgery. We aim to illustrate the importance of a multidisciplinary approach for diagnosing and treating this disease. Any suspicion of recurrent keratocanthomas or squamous cell carcinomas particularly in familial patterns and in patients of Scottish ancestry should be discussed closely between specialists including surgeons, pathologists, dermatologists, geneticists, and oncologists.
European Journal of Plastic Surgery – Springer Journals
Published: Oct 1, 2012
It’s your single place to instantly
discover and read the research
that matters to you.
Enjoy affordable access to
over 18 million articles from more than
15,000 peer-reviewed journals.
All for just $49/month
Query the DeepDyve database, plus search all of PubMed and Google Scholar seamlessly
Save any article or search result from DeepDyve, PubMed, and Google Scholar... all in one place.
Get unlimited, online access to over 18 million full-text articles from more than 15,000 scientific journals.
Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.
All the latest content is available, no embargo periods.
“Hi guys, I cannot tell you how much I love this resource. Incredible. I really believe you've hit the nail on the head with this site in regards to solving the research-purchase issue.”Daniel C.
“Whoa! It’s like Spotify but for academic articles.”@Phil_Robichaud
“I must say, @deepdyve is a fabulous solution to the independent researcher's problem of #access to #information.”@deepthiw
“My last article couldn't be possible without the platform @deepdyve that makes journal papers cheaper.”@JoseServera