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Genetics Home Reference: your guide to understanding genetic conditions
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Nonsyndromic aplasia cutis congenita

Reviewed August 2013

What is nonsyndromic aplasia cutis congenita?

Nonsyndromic aplasia cutis congenita is a condition in which babies are born with localized areas of missing skin (lesions). These areas resemble ulcers or open wounds, although they are sometimes already healed at birth. Lesions most commonly occur on the top of the head (skull vertex), although they can be found on the torso or limbs. In some cases, the bone and other tissues under the skin defect are also underdeveloped.

Most affected babies have a single lesion. The lesions vary in size and can be differently shaped: some are round or oval, others rectangular, and still others star-shaped. They usually leave a scar after they heal. When the scalp is involved, there may be an absence of hair growth (alopecia) in the affected area.

When the underlying bone and other tissues are involved, affected individuals are at higher risk of infections. If these severe defects occur on the head, the membrane that covers the brain (the dura mater) may be exposed, and life-threatening bleeding may occur from nearby vessels.

Skin lesions are typically the only feature of nonsyndromic aplasia cutis congenita, although other skin problems and abnormalities of the bones and other tissues occur rarely. However, the characteristic skin lesions can occur as one of many symptoms in other conditions, including Johanson-Blizzard syndrome and Adams-Oliver syndrome. These instances are described as syndromic aplasia cutis congenita.

How common is nonsyndromic aplasia cutis congenita?

Aplasia cutis congenita affects approximately 1 in 10,000 newborns. The incidence of the nonsyndromic form is unknown.

What genes are related to nonsyndromic aplasia cutis congenita?

Nonsyndromic aplasia cutis congenita can have different causes, and often the cause is unknown. Because the condition is sometimes found in multiple members of a family, it is thought to have a genetic component; however, the genetic factors are not fully understood. Researchers suggest that genes important for skin growth may be involved. It is thought that impairments of skin growth more commonly affect the skin at the top of the head because that region needs to be able to grow quickly to cover the fast-growing skull of a developing baby.

In some cases, nonsyndromic aplasia cutis congenita is caused by exposure to a drug called methimazole before birth. This medication is given to treat an overactive thyroid gland. Babies whose mothers take this medication during pregnancy are at increased risk of having the condition. In addition, certain viral infections in a pregnant mother can cause the baby to be born with the skin lesions characteristic of nonsyndromic aplasia cutis congenita. Other cases are thought to be caused by injury to the baby during development.

How do people inherit nonsyndromic aplasia cutis congenita?

Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family. When the condition runs in families, inheritance usually follows an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. Rarely, the condition appears to follow an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of nonsyndromic aplasia cutis congenita?

These resources address the diagnosis or management of nonsyndromic aplasia cutis congenita and may include treatment providers.

  • Genetic Testing Registry: Aplasia cutis congenita (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0282160)

You might also find information on the diagnosis or management of nonsyndromic aplasia cutis congenita in Educational resources (http://www.ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about nonsyndromic aplasia cutis congenita?

You may find the following resources about nonsyndromic aplasia cutis congenita helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for nonsyndromic aplasia cutis congenita?

  • ACC
  • congenital absence of skin on scalp
  • congenital defect of the skull and scalp
  • congenital ulcer of the newborn
  • scalp defect congenital

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about nonsyndromic aplasia cutis congenita?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding nonsyndromic aplasia cutis congenita?

alopecia ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; congenital ; gene ; incidence ; inheritance ; injury ; lesion ; pattern of inheritance ; recessive ; sporadic ; syndrome ; thyroid ; ulcer

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Abulezz TA, Shalkamy MA. Aplasia cutis congenita: Two cases of non-scalp lesions. Indian J Plast Surg. 2009 Jul;42(2):261-4. doi: 10.4103/0970-0358.59297. (http://www.ncbi.nlm.nih.gov/pubmed/20368873?dopt=Abstract)
  • Akar M, Dilli D, Sandal G, Erdeve Ö, Dilmen U. Aplasia cutis congenita due to methimazol exposure within the first trimester of pregnancy: case report. J Perinat Med. 2011 Nov;39(6):743-4. doi: 10.1515/JPM.2011.089. Epub 2011 Aug 2. (http://www.ncbi.nlm.nih.gov/pubmed/21809898?dopt=Abstract)
  • Frieden IJ. Aplasia cutis congenita: a clinical review and proposal for classification. J Am Acad Dermatol. 1986 Apr;14(4):646-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/3514708?dopt=Abstract)
  • Maillet-Declerck M, Vinchon M, Guerreschi P, Pasquesoone L, Dhellemmes P, Duquennoy-Martinot V, Pellerin P. Aplasia cutis congenita: review of 29 cases and proposal of a therapeutic strategy. Eur J Pediatr Surg. 2013 Apr;23(2):89-93. doi: 10.1055/s-0032-1322539. Epub 2012 Aug 17. (http://www.ncbi.nlm.nih.gov/pubmed/22903250?dopt=Abstract)
  • Mihçi E, Erişir S, Taçoy S, Lüleci G, Alpsoy E, Oygür N. Aplasia cutis congenita: three cases with three different underlying etiologies. Turk J Pediatr. 2009 Sep-Oct;51(5):510-4. (http://www.ncbi.nlm.nih.gov/pubmed/20112612?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: July 21, 2014