Aplasia cutis congenita

Title

Other Names:

Aplasia cutis congenita nonsyndromic; Congenital defect of skull and scalp; Scalp defect congenital

Categories:

Congenital and Genetic Diseases

Summary Summary

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 blood flow to the skin.^[1]

Last updated: 9/17/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Skull defect	90%
Spinal dysraphism	90%
Skin ulcer	50%
Abnormality of bone mineral density	7.5%
Abnormality of coagulation	7.5%
Facial palsy	7.5%
Aplasia cutis congenita over the scalp vertex	-
Autosomal dominant inheritance	-
Autosomal recessive inheritance	-

Last updated: 9/1/2016

Cause Cause

There is no one cause for all cases of aplasia cutis congenita.^[2]^[3] The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition.^[1]^[3] 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.^[1]^[3]^[1] Some cases may represent an incomplete or unusual form of a neural tube defect.^[4] Familial cases of aplasia cutis congenita have been reported.^[1]^[4] Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.^[4]

Last updated: 9/17/2016

Treatment Treatment

Treatment of aplasia cutis congenita varies depending on the condition of the infant. Conservative treatment is preferred.^[5] Small areas usually heal on their own over time. Gentle cleansing and application of bland ointments or silver sulfadiazine can help prevent infection. If infection occurs, antibiotics can be used.^[3]^[6] Recently, a variety of specialized dressing materials have been developed and used.^[3] Larger lesions may require surgery.^[3]^[6] Ultimately, the decision to use medical, surgical, or both forms of therapy depends primarily on the size, depth, and location of the skin defect.^[3]

Last updated: 9/13/2016

Prognosis Prognosis

The long-term outlook (prognosis) for people with aplasia cutis congenita is usually excellent. If the condition is associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of the other condition(s).^[3]

Major complications of aplasia cutis congenita are rare, but can include hemorrhage, secondary local infection, meningitis, or sagittal sinus thrombosis. Larger affected areas associated with underlying bony defects can cause death due to central nervous system infection, or hemorrhage from the sagittal sinus. Complications can also result from associated abnormalities or malformations, when present.^[3]

Last updated: 9/13/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.

Parent Matching Organizations

Contact a Family is a UK-wide charity providing advice, information and support to individuals affected by various health conditions. They enable parents, families, and individuals to get in contact with others, on a local, national, and international basis. Each year they reach at least 275,000 families. Click on Contact a Family to view the Making Contact page for aplasia cutis congenita.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My 4 month old daughter was born with a small open wound on the back of her head. It has healed into a pink scar and has since been diagnosed as aplasia cutis. They have done an ultrasound and said everything was normal and she needed no further treatment. They told me they would only do genetic testing if she does not hit her milestones. She is hitting them all so far and more. My question is, is this just an isolated scar with no other problems? Or will she develop problems later in life? Is it possible to have aplasia cutis congenita with no other mental or physical abnormalities? See answer
When my second daughter was born last year, I noticed that she had a small bald patch the size of a coin. I am afraid that she might have aplasia cutis congenita. Can you provide me with information about this condition? See answer
My son was born with aplasia cutis congenita. He is now one year old and the spot on his head is about 4 inches long and 1/2 inch wide. As his head grows, the lesion continues to get bigger. His dermatologist has prescribed a skin cream to keep it moist, but my son continues to scratch it open daily. My son's doctor says that there is nothing that can be done until he is a teenager when a portion of the membrane can be removed and his scalp can be stitched together. I can't see waiting that long without a better recommendation. What treatment options are available? See answer
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. See answer
My daughter was diagnosed with aplasia cutis congenita. Can you provide me with more information about this condition, including its causes, associated problems, and how it might be treated? See answer
I was born with aplasia cutis congenita. I would like to learn more about this condition, including how it is inherited and how it may affect me as I get older. See answer

References References

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.
Joseph G. Morelli. Chapter 647 - Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
Wan J. Aplasia Cutis Congenita. Medscape Reference. March 2, 2016; http://emedicine.medscape.com/article/1110134-overview.
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;
Duan X, Yang G, Yu D, Yu C, Wang B, Guo Y. Aplasia cutis congenita: A case report and literature review. Exp Ther Med. 2015 Nov; 10(5):1893-1895. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4665749/.
Ngan V. Aplasia cutis. DermNet NZ. September 3, 2015; http://www.dermnetnz.org/topics/aplasia-cutis/.
MR Vijayashankar. Aplasia cutis congenita: A case report. Dermatology Online Journal. 2005; http://dermatology.cdlib.org/113/case_presentations/aplasia/vijayashankar.html.