BMJ Awards 2019: Dermatology Team of the YearBMJ 2019; 364 doi: https://doi.org/10.1136/bmj.l1229 (Published 19 March 2019) Cite this as: BMJ 2019;364:l1229
- Jacqui Wise, freelance journalist
- London, UK
Establishing a national xeroderma pigmentosum service
Patients with the rare inherited disorder xeroderma pigmentosum can’t repair the normal damage that occurs from exposure to ultraviolet light. As a consequence, they develop skin cancers from early childhood, severe eye disease, and neurological degeneration. Their mean lifespan is only 32 years, with most patients dying from skin cancer.
There are only 100 people with the condition in the UK. Because patients tended to be seen by consultants who had never seen the condition before, they were given poor care with unnecessary, inappropriate investigations and surgery, says Robert Sarkany, consultant dermatologist at Guy’s and St Thomas’ NHS Foundation Trust.
Sarkany set up a national xeroderma pigmentosum service in 2010 with input from the patient support group. Patients come annually to a multidisciplinary clinic where they can see a dermatologist, dermatological surgeon, ophthalmologist, neurologist, neuropsychologist, geneticist, and specialist nurse. “The nurses supervise the outreach programme and liaise with the patient’s GP. They act as a glue to bind the service together,” says Sarkany.
The specialist nurse also visits the patient at home and gives advice—for example on fitting ultraviolet …