Disease Profile

Aplasia cutis congenita

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of Onset

Antenatal

ICD-10

Q84.8

Inheritance

Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other Names (AKA)

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

Categories

Congenital and Genetic Diseases; Skin Diseases

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]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia cutis congenita over the scalp vertex
0004471
Calvarial skull defect
Cranial defect
Skull defect

[ more ]

0001362
Congenital localized absence of skin
0007383
Spinal dysraphism
0010301
30%-79% of people have these symptoms
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Abnormality of bone mineral density
0004348
Facial palsy
Bell's palsy
0010628
Finger syndactyly
0006101
Prolonged bleeding time
0003010
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006

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]

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]

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    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.

    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. 
    • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
    • 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.

    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. https://www.aafp.org/afp/2005/1015/p1569.html.
    2. Joseph G. Morelli. Chapter 647 Cutaneous Defects. In: Robert M. Kleigman. Nelson Textbook of Pediatrics, 18th edition. Philadelphia, PA: Saunders Elsevier; 2007;
    3. Wan J. Aplasia Cutis Congenita. Medscape Reference. March 2, 2016; https://emedicine.medscape.com/article/1110134-overview.
    4. 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;
    5. 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/.
    6. Ngan V. Aplasia cutis. DermNet NZ. September 3, 2015; https://www.dermnetnz.org/topics/aplasia-cutis/.
    7. MR Vijayashankar. Aplasia cutis congenita: A case report. Dermatology Online Journal. 2005; https://dermatology.cdlib.org/113/case_presentations/aplasia/vijayashankar.html.