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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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Overview
Aplasia cutis congenita is a condition in which there is a congenital (present from birth) absence of skin with or without the absence of underlying structures such as bone.[1] This absence of skin most commonly affects the scalp, but any location of the body surface can be affected, including the truck, arms, and legs.[2] Most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with congenital malformations involving the cardiovascular, gastrointestinal, genitourinary, and central nervous systems.[1] The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); teratogens, genetic factors, trauma, and compromised skin perfusion each seem to play a role.[1]
References
- Tamara Buchel, Wendy Devaul, Keith Frey. Pop Quiz: Newborn with Scalp Lesion. American Family Physician. http://www.aafp.org/afp/2005/1015/. Accessed January 19, 2010.
- Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007.
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On this page
General Information
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition. Click on the link to view the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this topic. We recommend calling toll-free at 877-226-4267 to request a copy of this information.
- 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.
- 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.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aplasia cutis congenita. Click on the link to go to OMIM and review these resources.