Aplasia cutis congenita

What causes aplasia cutis congenita?

There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma. Some cases may represent an incomplete or unusual form of a neural tube defect. Familial cases of aplasia cutis congenita have been reported. Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.

Last updated on 05-01-20

What is the long-term outlook for people with aplasia cutis congenita?

The long-term outlook (prognosis) for people with aplasia cutis congenita is usually excellent. If the condition is associated with other abnormalities or malformations, the prognosis then depends on the nature and severity of the other condition(s).

Major complications of aplasia cutis congenita are rare, but can include hemorrhage, secondary local infection, meningitis, or sagittal sinus thrombosis. Larger affected areas associated with underlying bony defects can cause death due to central nervous system infection, or hemorrhage from the sagittal sinus. Complications can also result from associated abnormalities or malformations, when present.

Last updated on 05-01-20

How might aplasia cutis congenita be treated?

Treatment of aplasia cutis congenita varies depending on the condition of the infant. Conservative treatment is preferred. Small areas usually heal on their own over time. Gentle cleansing and application of bland ointments or silver sulfadiazine can help prevent infection. If infection occurs, antibiotics can be used. Recently, a variety of specialized dressing materials have been developed and used. Larger lesions may require surgery. Ultimately, the decision to use medical, surgical, or both forms of therapy depends primarily on the size, depth, and location of the skin defect.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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