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Aplasia Cutis Congenita
December 2000

Q. My 1-year-old daughter has recently had a confirmation that the birth defect on her head is an aplasia cutis congenita. Could you please provide me with information on this condition? Also, at what stage in development in utero would this occur? I had some trauma during my pregnancy at 10 weeks and would like to know if this had anything to do with this condition.

A. Aplasia cutis congenita is considered a rare condition, occurring in about 1 per 3500 live births. It is characterized by a failure of the skin to develop in certain areas, most commonly on the scalp. The cause is thought to be due to a defect in the DNA on certain chromosomes. The reason for this is unknown, but I have not seen any reference to trauma to the mother as a likely cause. There can be associated internal conditions in addition to the skin defect, so a thorough evaluation is a good idea. This may require consultation with a children's medical center where specialists in congenital conditions can advise you further.

WEB REFERENCES:

http://www.keratin.com/af/af006.shtml

http://www.rarediseases.org/

http://rarediseases.info.nih.gov/ord/diseases.html

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