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Diseases

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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Cause

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What causes aplasia cutis congenita?

There is no one cause for all cases of aplasia cutis congenita.[1][2] The condition is thought to be multifactorial, which mean that several factors likely interact to cause the condition.[3][2] Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma.[3][4][2] Some cases may represent an incomplete or unusual form of a neural tube defect.[5] Familial cases of aplasia cutis congenita have been reported.[3][5] Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.[5]

Last updated: 2/2/2010

References
  1. Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
  2. Mark A Crowe. Aplasia Cutis Congenita. eMedicine. 2010; http://emedicine.medscape.com/article/1110134-overview. Accessed 2/2/2010.
  3. 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.
  4. MR Vijayashankar. Aplasia cutis congenita: A case report. Dermatology Online Journal . 2005; http://dermatology.cdlib.org/113/case_presentations/aplasia/vijayashankar.html. Accessed 7/21/2008.
  5. 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;


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.