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Skin Care and Diseases

Skin disease name Von Recklinghuesen`s diseas

01/11/2006

Question:

i would like 2 ask about a kind of skin desease which i got the name call `von reckling hausen`s disease.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 n it`s all over her body wen she give birth of her last(4th child).

recently i found out that my boyfriend`s younger sister(4th- 18 years old)n brother(3rd child-21 years old) 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.

Answer:

Von Recklinghausen's disease is Neurofibromatosis type 1.  The skin growths are neurofibromas.  This disease is genetically transmitted in an autosomal dominant pattern.  However, in about 30-50% of cases we see, there may not even be a family history of the disease, indicating that it could also be a result of spontaneous mutations.  The expression of the gene is variable such that one affected family member may have just a few skin growths while another member may have a much more severe clinical presentation.

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Response by:

Elma D Baron, MD Elma D Baron, MD
Associate Professor of Dermatology
Director, Skin Study Center
School of Medicine
Case Western Reserve University