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Nonsyndromic aplasia cutis congenita is a birth defect characterized by localized areas where skin is missing at birth (congenital skin lesions). These areas can appear as open sores or ulcers, but sometimes are already healed. The scalp, especially the top of the head, is the most common location for these lesions, but they can also occur on the torso or limbs. In some instances, the tissues and bone beneath the skin defect may also be underdeveloped.
Typically, affected infants have only one skin lesion. These lesions vary in size and shape, appearing round, oval, rectangular, or star-shaped. A scar usually remains after the lesion heals. If the lesion is on the scalp, hair may not grow in that area, resulting in alopecia.
In cases where the underlying bone and tissues are involved, there is an increased risk of infection. When severe defects are located on the head, the dura mater (the membrane protecting the brain) can be exposed, potentially leading to life-threatening bleeding from nearby blood vessels.
Generally, the skin lesions are the only symptom of nonsyndromic aplasia cutis congenita. However, other skin issues and bone or tissue abnormalities can rarely occur. It's important to note that similar skin lesions can be a part of more complex conditions like Johanson-Blizzard syndrome and Adams-Oliver syndrome. When aplasia cutis congenita is present with other symptoms, it is referred to as syndromic aplasia cutis congenita.
Most cases of nonsyndromic aplasia cutis congenita occur randomly (sporadically), meaning there's no family history of the condition. In families where the condition is inherited, it usually follows an autosomal dominant pattern. This means that only one copy of a mutated gene in each cell is enough to cause the disorder. In rare cases, an autosomal recessive inheritance pattern is observed. This requires two copies of a mutated gene in each cell to cause the condition. In these cases, both parents are carriers of one copy of the mutated gene but typically do not exhibit any signs or symptoms themselves.
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