Aplasia cutis congenita
- 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?
- Is aplasia cutis congenita inherited?
- How can I find a genetics professional in my area?
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.
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 you are concerned about the risks for your children, 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.
The following online resources can help you find a genetics professional in your community:
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Tamara Buchel, Wendy Devaul, Keith Frey. Photo Quiz: Newborn with a Scalp Lesion. American Family Physician. 2005 Oct 15; 72(8):1589-1571. http://www.aafp.org/afp/2005/1015/p1569.html. Accessed 9/30/2015.
- Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
- Wan J. Aplasia Cutis Congenita. Medscape Reference. April 22, 2015; http://emedicine.medscape.com/article/1110134-overview. Accessed 9/30/2015.
- MR Vijayashankar. Aplasia cutis congenita: A case report. Dermatology Online Journal. 2005; http://dermatology.cdlib.org/113/case_presentations/aplasia/vijayashankar.html.
- 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;
- Ngan V. Aplasia cutis. DermNet NZ. September 3, 2015; http://dermnetnz.org/lesions/aplasia-cutis.html. Accessed 9/30/2015.
- Victor A. McKusick. Aplasia Cutis Congenita, Nonsyndromic. In: Jumana Al-Aama. Online Mendelian Inheritance in Man (OMIM). 8/21/2013; http://omim.org/entry/107600.