Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome

Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome.

from # All Medicine by Alexandros G. Sfakianakis via Alexandros G.Sfakianakis on Inoreader http://ift.tt/2vwAxmc
via IFTTT