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Diseases

Genetic and Rare Diseases Information Center (GARD)

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: 9/30/2015

References

  1. 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.
  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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • 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.
Other Names for this Disease
  • Aplasia cutis congenita nonsyndromic
  • Congenital defect of skull and scalp
  • Scalp defect congenital
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.