7. One of your older friends and her partner are having a baby. She decided to g

Question

7. One of your older friends and her partner are having a baby. She decided to go with a home birth, because she doesn't like hospitals much. Afterwards, she calls you, terrified because her baby is missing large areas of skin and has blisters all over. You try to comfort her, because you think you remember learning about this condition in BIOC 442, and know that it can be treated. A. What condition does the baby have? B. What filament is mutated in the disease state and how does that cause blisters and loss of skin? C. How is this condition treated?

Explanation / Answer

A. The condition the baby has is Epidermolysis Bullosa.

B. The collagen VII is mutated in Epidermolysis Bullosa. Collagen connects the dermis and epidermis and provides support to the epidermis. So when this is mutated, there will be impaired collagen VII production. This results in weak association between dermis and epidermis. So minor truama or stress can cause the separation of the skin layers. Additionaly, the separation leads to the formation of blisters.

C. The treatment is preventive and supportive. Medication can be prescribed for pain, itching, infection. Surgery can be done upon certain critical condition.

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