Aplasia Cutis Congenita

Aplasia Cutis Congenita

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Aplasia Cutis Congenita is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • ACC
  • Congenital Defect of the Skull and Scalp
  • Scalp Defect Congenital
  • Congenital ulcer of the newborn

Disorder Subdivisions

  • None

General Discussion

Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane. The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be the primary disorder or it may occur in association with other underlying disorders.

Symptoms

Individuals born with Aplasia Cutis Congenita lack skin (and therefore hair), in localized areas of the body, usually, but not always, on the scalp (70 percent of cases). In some cases, the trunk, arms, and/or legs may also be involved. Sometimes, the underlying bone may be missing as well as the skin. The affected area(s) are usually replaced with a thin transparent membrane. In some cases, these affected structures and other organs may be seen through the transparent membrane.



Most individuals with Aplasia Cutis Congenita exhibit no other abnormalities. However, in some rare cases, they may experience other physical characteristics including abnormalities of the ears, a form of paralysis (palsy) affecting one side of the face, an abnormally large head (macrocephaly), and/or congenital heart anomalies.



Aplasia Cutis Congenita may also occur as a physical condition characteristic of several other disorders, including Adams-Oliver Syndrome, Aplasia Cutis Congenita-Gastrointestinal, and Johanson-Blizzard Syndrome. (For more information on these disorders, see the Related Disorders section of this report.)

Causes

Aplasia Cutis Congenita is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.



In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Aplasia Cutis Congenita is a very rare disorder that affects males and females in equal numbers. At least five hundred cases have been reported in the medical literature. Absence of skin is obvious at birth (congenital).

Standard Therapies

Diagnosis of Aplasia Cutis Congenita is generally obvious at birth through the characteristic absence of skin affecting the scalp, trunk, arms, and/or legs.



Children diagnosed with Aplasia Cutis Congenita should receive a complete medical evaluation to determine whether this disorder is occurring on its own or as a secondary characteristic of another disorder. If Aplasia Cutis Congenita is occurring on its own, affected children should be monitored for symptoms and physical characteristics associated with this disorder.



Medical treatments of Aplasia Cutis Congenita include measures to prevent the drying out of the membrane by soothing, bland ointments. Antibiotics should be used only if signs of bacterial infection are present. The damaged area usually heals spontaneously.



Surgical care may include the repair of multiple scalp defects that usually, but not always, respond to procedures less traumatic than skin grafts. These may include such techniques as tissue expanders to fill in large areas or flap rotation to ease a piece of skin over an affected area.



Genetic counseling may be of benefit for affected individuals and their families.

Investigational Therapies

Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Behrman RE, ed. Nelson Textbook of Pediatrics, 15th ed. Philadelphia, PA: W.B. Saunders Company; 1996:1835.



Champion RH, et al., eds. Textbook of Dermatology. 5th ed. Cambridge, MA: Blackwell Scientific Publications; 1992:519-23.



Habif TP, ed. Clinical Dermatology. 2nd ed. St. Louis, MO: The C.V. Mosby Company; 1990:614.



JOURNAL ARTICLES

Komuro Y, Yanai A, Seno H, et al. Surgical treatment of aplasia cutis congenita of the scalp associated with bilateral coronal synostosis. J Craniofac Surg. 2002;13:513-19.



Rhee ST, Colville C, Buchman SR. Complete osseous regeneration of a large skull defect in a patient with cutis aplasia: a conservatiove approach. J Craniofac Surg. 2002;13:497-500.



Caksen Kurtoglu S. Our experience with aplasia cutis congenita. J Dermatol. 2002;29:376-79.



Prager W, Scholz S, Rompel R. Aplasia cutis congenita in two siblings. Eur J Dermatol. 2002;12:228-30.



Cambiaghi S, Schiera A, Tasin L, et al. Aplasia cutis congenita in surviving co-twins: four unrelated cases. Pediatr Dermatol. 2001;18:511-15.



Beekmans SJ, Wiebe M. Surgical treatment of aplasia cutis congenita in the Adams-Oliver syndrome. J Craniofac Surg. 2001;12:569-72.



Donati V, Arena S, Capilli G, et al. Reparation of a severe case of aplasia cutis congenita with engineered skin. Biol Neonate. 2001;80:273-76.



Casanova D, Amar E, Bardot J, et al. Aplasia cutis congenita. Report on 5 family cases involving the scalp. Eur J Pediatr Surg. 2001;11:280-84.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore. MD: The Johns Hopkins University; Entry No: 107600; Last Update: 4/30/99.



The Forsythe Institute. Craniofacial Disorders: Aplastic cutis congenita (ACC) and Adams-Oliver Syndrome AOS). 2000:1p.



eMedicine - Aplasia Cutis Congenita: Article by Mark A Crowe, MD

www.emedicine.com/DERM/topic32.htm

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675

USA

Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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