Expert evidence assists claim for delayed diagnosis of Muir-Torre syndrome

Case Studies

Expert evidence assists claim for delayed diagnosis of Muir-Torre syndrome


We settled a claim against a dermatologist for delayed diagnosis of the genetic condition Muir-Torre syndrome (MTS) which subsequently led to delayed diagnosis of bowel cancer.

Our client was diagnosed with bowel cancer in December 2011. He underwent a right hemi-colectomy for a poorly differentiated cancer that had extended beyond the muscle wall of the bowel but fortunately had not spread to his lymph nodes, liver or lungs. The delayed diagnosis had an impact on his employment as a dental surgeon due to ongoing functional bowel problems.

Following his bowel cancer diagnosis, he underwent investigations which discovered that he had MTS, a genetic condition that predisposes a person to certain types of cancer, including bowel and colon cancer.

Our client learned that, when he underwent removal of a skin lesion by a private dermatologist in 2004, the pathologist who reviewed the biopsy had advised the dermatologist to investigate the possibility that the client might have MTS. The dermatologist ignored that recommendation. The dermatologist’s failure to inform our client or his GP about this, and to instigate investigations by referral to an appropriate specialist, resulted in our client suffering a delayed diagnosis of MTS for seven years.

We obtained expert evidence which confirmed that the dermatologist was negligent for failing to act on the pathologist’s recommendation. Expert evidence also confirmed that, if our client had been diagnosed with MTS in 2004, he would have undergone regular screening investigations, including an annual colonoscopy. On the balance of probabilities, a colonoscopy would have identified and removed the pre-cancerous polyp in his colon before it developed into cancer. He would have avoided the bowel cancer and the need for cancer treatment. No further treatment or intervention would have been required.

The claim was settled after service of court proceedings and following negotiations between the parties and the acceptance of a Part 36 offer from the defendant.


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Penningtons Manches Cooper LLP is a limited liability partnership registered in England and Wales with registered number OC311575 and is authorised and regulated by the Solicitors Regulation Authority under number 419867.

Penningtons Manches Cooper LLP