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Brooke-Spiegler Syndrome: Treating Unsightly Tumors
– Reported, June 05 2013
Brooke-Spiegler syndrome is a condition caused by a malfunction of the CYLD gene making tumors begin to sprout all over the head and neck. The tumors originate from hair follicles or sweat glands so that in severe cases, the growths seem endless. The syndrome is hereditary and the severity of the tumors varies from person to person with women often being more strongly affected than men. Because Brooke-Spiegler syndrome is so rare, the number of people with the disorder is unknown.
Canadian Carol Fredenburg has lived with the condition for decades. Despite a family history of the syndrome, Carol was unaware of the condition until the age of 15 when she was first diagnosed with Brooke-Spiegler syndrome. She says that, Initially I didnt really know what to do. Since then Carol has undergone at least 30 procedures to control the ever-increasing growths including dermabrasion, laser treatments, and just simply cutting the tumors out and stitching them up, but nothing seemed to work.
Its like every time you turn around youve got more, explains Carol.
Carol informed her three children that they may one day begin to develop the same tumors they saw on their own mother. She broached the subject when the children were around 10 or 11, because youre to expect that [the growths] are going to start coming around at that age. Her daughter and one son ended up with syndrome, although the son had few enough tumors that they were able to be removed without issue.
Tired of failed attempts to rid herself of the disfiguring and sometimes painful tumors, Carol began searching for any new treatment possibilities. This is how she finds Dr. Vivek Panchapakesan in Toronto, Ontario.
Carol was Dr. Panchapakesans first and only Brooke-Spiegler patient. The doctor offered her the traditional options like laser treatments, but Carol was at the point where she didnt want to go with any of those more conservative routes; she wanted to try something aggressive just to really get rid of the lesions, explains Dr. Panchapakesan. With laser treatments there is a risk of tumor recurrence, and since the treatments must be done in installations and are not covered by most health care, the bill can begin to add up to thousands of dollars; money Carol did not want to spend on a procedure that may not work. That is when the doctor suggested skin grafts.
I was hesitant to offer it to her in the first place because skin grafting can be quite disfiguring, but she really did not want to try anything else and leaving the condition as is was not an option for her either, says Dr. Panchapakesan.
Fortunately for Carol, the skin grafts proved to be effective. Waiting only three to four months between surgeries, Carol has already had the surgery performed on her forehead and cheeks. Because the grafted skin is taken from Carols leg, the doctor says there is no chance of the tumors reappearing.
However, skin grafting is not something that should be taken lightly. Carols daughter, the only other Brooke-Spiegler patient Dr. Panchapakesan has treated, tried the same procedure but started to develop hypertrophic scarring where the scars and skin grafts begin to contract. Dr. Panchapakesan explains that, One person could be prone to that type of scarring and one person not. Due to these issues, the doctor and Carols daughter decided not to continue with the skin grafts.
In any case, Carol is glad to finally find a treatment that worked for her. She says, Dr. P pretty much gave me my life back.
Because of the rarity of Brooke-Spiegler syndrome, physicians dont have specialized treatments to control the growths but rather rely on common practices such as dermabrasion and laser treatments. While Dr. Panchapakesan says it is difficult to know what other doctors are doing, he seems to be the first to use skin grafts to treat Brooke-Spiegler syndrome. If anyone would like more information, Dr. Panchapakesans office website is www.yorkvilleoralsurgery.com.
Source: Interviews with Carol Fredenburg and Dr. Panchapakesan, May 2013