The importance of a multidisciplinary approach to the diagnosis and management of Ferguson-Smith disease: a patient's 24-year journey to diagnosis

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.