Aplasia cutis congenita is a rare condition with a complex inheritance pattern. As a result, babies are born lacking specific skin layers, most commonly on the scalp, trunk, arms, and legs.
Typically, a transparent, thin membrane covers the affected area. It’s possible that the skull and other parts beneath it are visible, and that they’re abnormally grown. It might also be the only underlying condition, or it can happen in connection with others.
SYMPTOMS
Aplasia cutis congenita is a condition in which people are born without skin (and thus hair) in specific parts of the body, frequently but not always on the scalp. The arms, trunk, and legs could all be implicated in some instances.
At times, the underlying bone as well as the skin may be lacking. Therefore, a transparent, thin membrane is often used to substitute the impaired areas. In some scenarios, these afflicted organs could be visible via the transparent membrane.
The majority of people who have aplasia cutis congenita have no further problems. Nevertheless, in rare instances, they might have other physical traits, such as deformities of the ears, a type of paralysis influencing one part of the face, an excessively big head, and congenital heart defects.
Moreover, it can be a symptom of a variety of different conditions, including Johanson-Blizzard Syndrome, Aplasia Cutis Congenita-Gastrointestinal, and Adams-Oliver Syndrome.
DIAGNOSIS
Aplasia cutis congenita is diagnosed at birth by the lack of skin on the scalp, trunk, legs, and arms.
Children diagnosed with this condition should have a thorough medical examination to identify whether this problem exists on its own or as a side effect of another illness.
Also, affected children must be checked for symptoms and physical aspects related to Aplasia cutis congenita if it develops on its own.
TREATMENT
It is treated medically with bland ointments, soothing to prevent the membrane from drying out. Antibiotics must only be taken if there are indications of bacterial infection. In most cases, the affected area heals by itself.
In addition, multiple scalp deformities may often be repaired surgically and react to less traumatic treatments than skin grafts. Tissue expanders can also be used to cover large areas, and flap rotation can be used to alleviate a layer of skin over a damaged area. Genetic counselling may also benefit the affected individuals and their family members.
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