Medical Story – Page 3

Around age 5, Tommy started having skin rashes and eczema. We went to doctors, tried different medicines, gave him lots of antihistamines. But it seemed to get worse. His skin looked burnt and cracked. He had to stay in the airconditioning most of that summer to prevent flare ups. We find now that with moisture creams 2 or 3 times a day and over the counter cortisone just when it flares up, the skin stays healthy without restricting his day too much.

Tommy also has two lymphangiomas which we understand are malformations of the lymph area. They are under his left arm and at the top of his left leg. They are followed by a surgeon.

In the summer of 2010, we went to see Dr Charis Eng at the Cleveland Clinic. The National Institute of Health gave us her name when Tommy’s grandfather contacted them to see what else we could learn about Bannayan Riley Ruvalcaba Syndrome. Dr. Eng discovered the PTEN gene mutation responsible for Tommy’s syndrome. This was the first time that we were meeting with someone who had seen other patients with the same condition. Dr Eng explained to us that although there is no published information yet she believes Tommy’s lung, tonsil, and skin conditions are related to the mutation. Since a PTEN mutation causes an overgrowth of cells, she believes that Tommy’s sinus and airway passages might have thicker walls and therefore a thinner space for air and mucous to pass. Thus causing clogging and plugs. The passages that bring moisture to the skin are probably suffering the same problem. We raised with Dr Eng that Tommy has frequent bowel movements. She mentioned that she suspects patients with a PTEN mutation may have “lazy nerves” and it is difficult for them to coordinate the movements required for a full bowel movement.

Separately, Dr Eng mentioned that in general certain benign growths and lesions should not be removed in patients with a PTEN mutation as they tend to regrow even larger (examples were lesions of the mouth, face and hands that have not been seen to become malignant). Of course, these should be checked and followed by a doctor. She was pleased that Tommy had a full tonsillectomy because if any tonsil tissue had been left behind (as would be the case with a partial tonsillectomy), the chances of regrowth were far greater. She also mentioned that if Tommy’s thyroid ever needs to be removed for a malignancy, it should be removed in full as they have not had much success with partial removals (the thyroid regrows with the malignancy). Because thyroid problems are so common in patients with a PTEN mutation, we had a baseline sonogram done of Tommy’s thyroid. Regular thyroid sonograms are recommended beginning at age 18 for patients with a PTEN mutation (there are other additional screening guidelines for patients with a PTEN mutation). Finally, she explained to us that she has a theory that patients with a PTEN mutation metabolize medicine faster than the average population. Tommy is participating in two studies being conducted by Dr Eng.

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