Case presentation A 43-year-old man who had been suffering for several years from painful bleeding lesions on his feet presented for a second opinion after his previous treatments failed. Patient history Epistaxis as a child Lesions developed 3 to 4 years ago No anemia or rectal bleeding Skin lesions on the forehead that had been diagnosed as melanoma about ten years ago High cholesterol level for which he took atorvastatin Father had died from lung cancer One of his daughters had epistaxis Gastrointestinal bleeding Physical examination Palpable pedal pulses Adequate protective sensation Excellent muscle strength No foot deformity Red lesions on the plantar aspect of feet Lesions: Red, flat, circular, 0.1 cm in diameter Lesions painful on palpation Not itchy His genetic tests revealed c.313+_2T>C in the ACVRL1 gene.
What is the underlying cause of these symptoms? (Answer is…
