Aplasia cutis congenita
Other Names for this Disease
- Aplasia cutis congenita nonsyndromic
- Congenital defect of skull and scalp
- Scalp defect congenital
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 It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised skin perfusion.Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone.
Last updated: 9/30/2015
- 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;
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference contains information on Aplasia cutis congenita. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Aplasia cutis congenita. Click on the link to view a sample search on this topic.