Aplasia Cutis Congenita

Common Name(s)

Aplasia Cutis Congenita

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. It most commonly affects the scalp, but any location of the body can be affected. 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.  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 skin perfusion.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aplasia Cutis Congenita" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aplasia Cutis Congenita" returned 20 free, full-text research articles on human participants. First 3 results:

BMS1 is mutated in aplasia cutis congenita.
 

Author(s): Alexander G Marneros

Journal: PLoS Genet.. 2013 Jun;9(6):e1003573.

 

Aplasia cutis congenita (ACC) manifests with localized skin defects at birth of unknown cause, mostly affecting the scalp vertex. Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC. A heterozygous Arg-to-His ...

Last Updated: 20 Jun 2013

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A rare case of aplasia cutis congenita.
 

Author(s): Mostafa Dahmardehei

Journal:

 

Aplasia cutis congenita is a rare anomaly presenting with the absence of skin. No definite etiology is available. The most common site is the scalp. We present an instance with ACC occurring symmetrically in both sides of the body from chest to flank.

Last Updated: 5 Jun 2013

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Aplasia cutis congenita of eyelid: case report.
 

Author(s): Y-Y Gao, T-X Xu, H-X Zhao

Journal: Eye (Lond). 2013 Aug;27(8):992-4.

 

Last Updated: 8 Aug 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aplasia Cutis Congenita" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Genetic and Functional Analysis of Aplasia Cutis Congenital (ACC)
 

Status: Recruiting

Condition Summary: Aplasia Cutis Congenita

 

Last Updated: 1 Dec 2014

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Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Not yet recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 10 Jun 2014

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SCT for Dyskeratosis Congenita or SAA
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 4 Mar 2014

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