Aplasia cutis congenita
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Aplasia cutis congenita is a condition in which there is a congenital (present from birth) absence of skin with or without the absence of underlying structures such as bone.[1] This absence of skin most commonly affects the scalp, but any location of the body surface can be affected, including the truck, arms, and legs.[2] Most patients with aplasia cutis congenita have no other abnormalities, although the condition may be associated with congenital malformations involving the cardiovascular, 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); teratogens, genetic factors, trauma, and compromised skin perfusion each seem to play a role.[1]
References
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Tamara Buchel, Wendy Devaul, Keith Frey. Pop Quiz: Newborn with Scalp Lesion. American Family Physician. October 15, 2005 Available at: http://www.aafp.org/afp/20051015/photo.html. Accessed July 21, 2008.
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Joseph G. Morelli. Nelson Textbook of Pediatrics, 18th edition. In: . Chapter 647 - Cutaneous Defects. Philadelphia, PA:Saunders Elsevier; 2007:
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eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
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The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) offers printed materials on this topic. We recommend calling toll-free at 877-226-4267 to request a copy of this information.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link above to access information about aplasia cutis congenita.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Aplasia cutis congenita. Click on the link to go to OMIM and review these resources.
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Contact A Family
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National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free: 800-999-6673 (voicemail only)
Telephone: 203-744-0100
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Email: orphan@rarediseases.org
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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.
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We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
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