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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My son was born with cutis aplasia congenita.  He had two midline spots on his scalp, one spot was 11mm in diameter and the other spot was 13 mm. They have finally healed now and it took about 2 months. I was wondering if there is any research out there for a cause or if it is known what causes it.  I have taken him to four different doctors who have never seen it before and don't have a lot of information on it. He did have genetic testing done at birth which all came back normal.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

Is there research currently being conducted into the causes of aplasia cutis congenita?

We were unable to locate any current research on the causes of aplasia cutis congenita. However, we recommend that you visit ClinicalTrials.gov and RePORTer periodically for future updates and studies that might become available.

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. If you find a study through ClinicalTrials.gov that interest you, click on the study's titled and review its "eligibility" criteria to determine its appropriateness. Use the study’s contact information to learn more. 

The Research Portfolio Online Reporting Tool (RePORTer) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, click on the link and enter "aplasia cutis congenita" in the "Terms Search" box. Then click "Submit Query".
Link: http://projectreporter.nih.gov/reporter.cfm

We recommend that you revisit the GARD resource Web page on aplasia cutis congenita for updates by clicking here. GARD staff is constantly updating the disease resource Web pages with new information. It is possible that other studies may be posted on the aplasia cutis congenita GARD resource Web page that are not listed through the ClinicalTrials.gov or CRISP databases.
Last updated: 2/4/2013

How might I find out what may have caused cutis aplasia congenita?

Even if the cause of a person's cutis aplasia congenita is unknown, it is important to keep going in for regular follow-up visits. That way, one's regular health care provider can keep track of any health changes over time that might offer clues into a possible cause. In addition, new technologies and information are always becoming available, which could be important tools in providing answers regarding possible causes.
Last updated: 6/29/2009

References
  • Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
  • Mark A Crowe. Aplasia Cutis Congenita. eMedicine. 2010; http://emedicine.medscape.com/article/1110134-overview. Accessed 2/2/2010.
  • 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.
  • 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.
  • 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.