Aplasia cutis congenita
Other Names for this Disease
- Aplasia cutis congenita nonsyndromic
- Congenital defect of skull and scalp
- Scalp defect congenital
Your QuestionI was born with aplasia cutis congenita. I would like to learn more about this condition, including how it is inherited and how it may affect me as I get older.
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Questions on this page
- What is aplasia cutis congenita?
- What causes aplasia cutis congenita?
- What does aplasia cutis congenita commonly look like?
- What other conditions can be associated with aplasia cutis congenita?
- What complications can arise with aplasia cutis congenita?
- As an individual affected by aplasia cutis congenita, I worry about passing this condition on to my children. What are the chances that this will happen?
Most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with isolated physical anomalies or congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems. Larger lesions are more likely to be associated with other defects. Lesions with findings such as vascular flushing, tethering (which may be a sign of a dural attachment), or abnormal surrounding hair may signal further abnormalities and warrant evaluation.
Associated malformation syndromes may include Opitz, Adams-Oliver, and oculocerebrocutaneous, Johanson-Blizzard, 4p(-), X-p22 microdeletion syndromes, trisomy 13–15, and chromosome 16–18 defects. Aplasia cutis congenita may also be found in association with an overt or underlying embryologic malformation, such as meningomyelocele, gastroschisis, omphalocele, or spinal dysraphism (one or more vertebrae do not form normally). Aplasia cutis congenita in association with fetus papyraceus is apparently due to ischemic or thrombotic events in the placenta and fetus. Blistering or skin fragility and/or absence or deformity of nails in association with aplasia cutis congenita is a well-recognized presentation of epidermolysis bullosa.
Scalp aplasia cutis congenita lesions may be seen in association with distal limb reduction anomalies (anomalies involving underdevelopment of the ends of the limbs), generally with autosomal dominant inheritance, or sporadically (not inherited) in association with epidermal and organoid nevi (moles on the skin and the organs).
Maternal ingestion of the hyperthyroid drug methimazole or herpes simplex virus or varicella-zoster virus infection in the womb may also be associated with aplasia cutis congenita.
Frieden created a classification system for aplasia cutis congenita consisting of 9 groups based on the number and location of the lesions and the presence or absence of associated malformations. To read more about this classification system, click here.
Not all cases of aplasia cutis congenita are inherited. In order to establish a cause in each case, a detailed history should be done, including a review of maternal medications taken during the pregnancy and evidence of infections such as varicella or herpes viruses. A complete physical examination can be performed to search for associated physical anomalies or recognizable malformation syndromes, some of which may be inherited. A thorough family history is very important.When aplasia cutis congenita is inherited, autosomal dominant inheritance is most common. In this type of inheritance, only one abnormal gene is needed in order for the disease to develop. Often, one of the parents has the disease. An affected person has a 50% chance in each pregnancy to pass along the altered gene. Some cases of aplasia cutis congenita exhibit autosomal recessive inheritance. In this type of inheritance, two copies of an abnormal gene must be present in order for the disease or trait to develop. Typically, an individual with a recessive condition has inherited one altered gene from each of his/her parents (both of whom are carriers and not affected).
If the specific cause of your aplasia cutis congenita has not been identified, you may be able to participate in a research study which is being conducted at the University of Connecticut. The focus of this study is to identify the genes which cause aplasia cutis congenita. To learn more about this research study, click here.
You may also wish to seek the advice of a genetics professional. This type of medical professional can conduct the aforementioned evaluations and help to determine if your aplasia cutis congenita is inherited. They can also provide you with more specific risks regarding your chances to pass along aplasia cutis congenita to your offspring. Individuals wishing to consult with a genetics professional should visit the Resources page and see the Services section for more information on how to locate a genetics clinic in their community.
- Tamara Buchel, Wendy Devaul, Keith Frey. Pop Quiz: Newborn with Scalp Lesion. American Family Physician. October 15, 2005; http://www.aafp.org/afp/2005/1015/. Accessed 1/19/2010.
- Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
- Mark A Crowe. Aplasia Cutis Congenita. eMedicine. 2010; http://emedicine.medscape.com/article/1110134-overview. Accessed 2/2/2010.
- MR Vijayashankar. Aplasia cutis congenita: A case report. Dermatology Online Journal . 2005; http://dermatology.cdlib.org/113/case_presentations/aplasia/vijayashankar.html. Accessed 7/21/2008.
- Mary Wu Chang, Seth J. Orlow. Neonatal, Pediatric, and Adolescent Dermatology. In: Irwin M. Freedberg, Arthur Z. Eisen, Klaus Wolff, K. Frank Austen, Lowell A. Goldsmith, and Stephen I. Katz. Fitzpatrick’s Dermatology in General Medicine, 6th edition. New York: McGraw-Hill; 2003;
- Aplasia Cutis Congenita, Nonsyndromic. Online Mendelian Inheritance in Man (OMIM). July 17, 2007; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=107600.