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.  
 

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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 27 free, full-text research articles on human participants. First 3 results:

Aplasia cutis congenita, group 5 without fetus papyraceus in two newborns.
 

Author(s): Sarabjit Kaur, Ankita Sangwan, Surabhi Dayal, Ishita Dua, Vijay Kumar Jain

Journal: Indian J Dermatol Venereol Leprol. ;82(6):695-697.

 

Last Updated: 23 Aug 2016

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Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.
 

Author(s): Andrea Diociaiuti, Daniele Castiglia, Simona Giancristoforo, Liliana Guerra, Vittoria Proto, Andrea Dotta, Renata Boldrini, Giovanna Zambruno, Maya El Hachem

Journal: Acta Derm. Venereol.. 2016 Aug;96(6):784-7.

 

Bullous dermolysis of the newborn (BDN) is a subtype of dystrophic epidermolysis bullosa characterized by rapid improvement in skin fragility within the first months of life, associated with typical immunofluorescence and ultrastructural features. Inheritance can be autosomal dominant ...

Last Updated: 23 Aug 2016

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[Pemphigoid gestationis and aplasia cutis congenita: report of a case].
 

Author(s): Ihssane Hakimi, Youssef Benabdejlil, Abdelhakim Ourraï, Jaouad Kouach, Driss Moussaoui, Mohammed Deyahni

Journal:

 

Last Updated: 10 Feb 2015

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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 1 free, full-text review articles on human participants. First 3 results:

Aplasia cutis congenita of the scalp--what are the steps to be followed? Case report and review of the literature.
 

Author(s): Piotr Brzezinski, Tudor Pinteala, Anca E Chiriac, Liliana Foia, Anca Chiriac

Journal: An Bras Dermatol. ;90(1):100-3.

 

Aplasia cutis congenita is a rare malformation characterized by localized congenital absence of the skin. It rarely occurs on the trunk and limbs, and can occur in isolation or as part of a heterogeneous group of syndromes. We report a case of a 4-day-old boy with a 5.6-cm- diameter ...

Last Updated: 12 Feb 2015

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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: 8 Sep 2016

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Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Aplastic Anemia

 

Last Updated: 14 Jun 2017

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Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita
 

Status: Recruiting

Condition Summary: Dyskeratosis Congenita; Hoyeraal Hreidarsson Syndrome; Revesz Syndrome; Aplastic Anemia

 

Last Updated: 7 Jun 2017

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