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Genetic and Rare Diseases Information Center (GARD)

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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 congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone.[1] It most commonly affects the scalp, but any location of the body can be affected.[2] 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.[1] 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.[1] 
Last updated: 3/22/2010

References

  1. 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.
  2. 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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Basic 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.
  • 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.

In Depth 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 Online Mendelian Inheritance in Man (OMIM) is an 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.