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Genetics (Expert Forum)
ACC
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
This forum is for questions and support regarding Genetics.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
ACC
by bandnmom, Feb 12, 2008 07:38PM
My daughter has Aplasia Cutis Congenita. Any info on this other than the basics? Will she have to worry about passing this along to her own children some day? She has is pretty bad. It affected skull and scalp. Both were surgically corrected. Now she is having other problems that the doctors are concerned about. Ex. Bad headaches and wetting pants. Shes 4 and has been potty trained for 2 yrs. Its almost like a urine leak. Any info is appreciated. Not many docs are knowledge in this disease.
Doctor's Answer
by Lisa Kessler, MS, CGC, Feb 20, 2008 08:45AM
, Feb 20, 2008 08:45AM
Thank you for your questions. It sounds like you have a lot going on with your daughter. As you know, Aplasia cutis congenita (ACC) is localized absence of skin from birth. This usually is on the scalp and can also affect the underlying skull, which you mentioned.
ACC can happen on its own or it can be associated with various genetic syndromes. If you have not already, it may be helpful to take your daughter to a pediatric geneticist for an evaluation. As part of this appointment, your daughter will have a detailed physical exam, evaluation of family history and discussion of the condition. You can find a clinical geneticist on the website of the American College of Medical Genetics.
You have asked an important question about whether or not she could pass this on to her children. This condition is most commonly inherited in an autosomal dominant way. This means that someone with the condition has a 50% chance of passing it on each time she has a child. Less commonly, this condition has been described with autosomal recessive inheritance. With this pattern, two people who are carriers for a changed gene have a 25% chance of passing on the condition each time they have children. Given both of these possibilities, she could have up to a 50% chance of passing ACC on to each child she has.
Research is being conducted about this condition to find the genes that cause ACC at the University of Connecticut Health Center (UCHC) Center for Restorative Medicine and Skeletal Development. If you are interested in learning more about the research, you can contact the lab directly at (860) 679-2062. Best wishes to you and your daughter.
ACC can happen on its own or it can be associated with various genetic syndromes. If you have not already, it may be helpful to take your daughter to a pediatric geneticist for an evaluation. As part of this appointment, your daughter will have a detailed physical exam, evaluation of family history and discussion of the condition. You can find a clinical geneticist on the website of the American College of Medical Genetics.
You have asked an important question about whether or not she could pass this on to her children. This condition is most commonly inherited in an autosomal dominant way. This means that someone with the condition has a 50% chance of passing it on each time she has a child. Less commonly, this condition has been described with autosomal recessive inheritance. With this pattern, two people who are carriers for a changed gene have a 25% chance of passing on the condition each time they have children. Given both of these possibilities, she could have up to a 50% chance of passing ACC on to each child she has.
Research is being conducted about this condition to find the genes that cause ACC at the University of Connecticut Health Center (UCHC) Center for Restorative Medicine and Skeletal Development. If you are interested in learning more about the research, you can contact the lab directly at (860) 679-2062. Best wishes to you and your daughter.
