Aplasia cutis congenita
Aplasia Cutis Congenita
Aplasia Cutis Congenita (pronounced: ap-lay-zee-uh koo-tis kuhn-jen-ih-tuh) is a rare congenital condition characterized by the absence of a portion of skin at birth. The etymology of the term is derived from the Greek words 'a' meaning 'without', 'plasia' meaning 'formation', 'cutis' meaning 'skin', and 'congenita' meaning 'born with'.
Definition
Aplasia Cutis Congenita is a rare condition that is present at birth and usually involves the scalp. The absence of skin often appears as a single, hairless patch, but can also involve larger areas of the body. The underlying structures, such as the bone, may also be affected.
Symptoms
The primary symptom of Aplasia Cutis Congenita is the absence of skin, usually observed at birth. The affected area may be covered with a thin, transparent membrane or may be completely open. Other symptoms may include hair abnormalities, nail abnormalities, and, in severe cases, involvement of the underlying bone or other structures.
Causes
The exact cause of Aplasia Cutis Congenita is unknown. However, it is believed to be multifactorial, meaning it is likely caused by a combination of genetic and environmental factors. Some cases have been associated with the use of certain medications during pregnancy, such as methimazole and carbimazole.
Treatment
Treatment for Aplasia Cutis Congenita depends on the severity and location of the skin absence. Small, uncomplicated lesions may heal over time with conservative management. Larger lesions, or those that affect the underlying structures, may require surgical intervention.
Related Terms
- Congenital: Referring to a condition that is present at birth.
- Cutis: The medical term for skin.
- Aplasia: The failure of an organ or tissue to develop normally.
- Multifactorial: Referring to a condition that is caused by multiple genetic and environmental factors.
External links
- Medical encyclopedia article on Aplasia cutis congenita
- Wikipedia's article - Aplasia cutis congenita
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