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Sunday, December 8, 2013
Skin Care and Diseases
Bubble on the skin
i would like 2 ask about a kind of skin desease which i`m not sure what it call. it happen 2 my boyfriend`s mother. it looks like bubble growing on the skin. it stay permenantly on the skin n when u tourch it, it feel like normal skin. it`s painless. recently i found out that my boyfriend`s younger sister n brother starting 2 have that symptom. althought my boyfriend n his elder brother don`t have any symptoms but im still afraid whether this desease will bring to my children by his gen. pls help me. thanks.
The presence of a skin disorder in a parent and in two siblings such as your boyfriend's younger sister and brother strongly suggests a genetic abnormality that is autosomal dominant so that each generation has the disease. There can always be variations in the expression of such genetic abnormalities so that some generations have very minimal findings. It would be important to have genetic counseling if you are planning to have children together.
The exact diagnosis from my point of view is obscure at this moment. Epidermolysis bullosa can express itself that way, as can the form of ichthyosis known as epidermolytic hyperkeratosis. Both of these diagnoses are arrived at through careful physical examination and usually biopsy of the skin to locate the bubble in the skin and if necessary do special stains. I would urge you to encourage your future family to have careful genetic counseling so that your questions can be answered about future children. Please see a board certified dermatologist. That individual can help you establish the diagnosis and point you to medical facilities where genetic counseling is available.
Charles L Heaton, MD
College of Medicine
University of Cincinnati