This week on Channel 4 a documentary aired called “Turtle Boy”, showing the story of a young boy in Columbia being treated for an extreme case of congenital melanocytic nevus (CMN). The boy’s birthmark which was so big it amassed to approximately 40% of his bodyweight.
Two doctors from Great Ormond Street Hospital, Clinician Dr Veronica Kinsler (right) and plastic surgeon Mr Neil Bulstrode are experts in diagnosing and managing this rare type of birthmark and featured in the documentary, as leading players in the field.
Veronica says: “CMN are moles that are present at birth. They can vary in size and number and the incidence of larger or multiple lesions is approximately 1 in 20,000 new births per year.
We think there are likely to be around 3,000 severely affected individuals at the moment in the UK, with lots more who are mildly affected.
“When babies are born, their parents can get understandably very worried until they know what the marks are. In the weekly clinics we run we are able to give a diagnosis, check that the moles themselves are safe and whether the skin appearance is telling us what other things might need to be checked.
“In around 25% of patients with severe CMN, there may be related neurological problems. We therefore regularly check childrens’ development to see whether there are any neurological signs and carry out an MRI scan of the brain to see if there are any abnormalities”
Some patients choose to have surgery to remove some of the more prominent or impacting birthmarks, often when the CMN are on the face, and surgeon Neil Bulstrode carries out between 30-40 removals each year.
Neil explains: “The majority of patients do not have surgery, because they do not need to be removed for medical reasons, and removing them leaves scars. Sometimes the CMN lighten spontaneously so they become less noticeable, so we often advise patients and their families to wait and see what happens naturally.
“On the other hand, with Didier, the boy featured in the Channel 4 documentary, the case for removing the birthmark was incredibly strong. It was so dense and widespread, it was significantly impacting upon his quality of life. Being able to take my extensive experience of birthmark removals at Great Ormond Street Hospital over to Columbia and join the local team in Bogota was amazing.
It was complex surgery, involving the removal of the birthmark in its entirety and then carrying out a complicated series of skin drafts over several stages. It’s fantastic that Didier is now back home in his village and doing well.”
Great Ormond Street Hospital and UCL Institute of Child Health is a leading centre for CMN research. Veronica’s efforts are focused on finding the genetic causes underlying CMN and she has recently made some interesting discoveries. This research could also help understanding of other conditions.
Veronica explains: “Not only is research into CMN important for families living with the condition, but it might also shed light on other skin conditions, such as melanoma, the fastest growing cancer in the UK which particularly affects young people. “
If a member of your family has CMN, you could contact the support group Caring Matters Now. This is a support group for families set up by families, many of whom are GOSH patients.