APLASIA CUTIS CONGENITA

Aplasia cutis congenita (ACC) is an unusual congenital disability affecting the skin. This condition may be identified by the absence of certain layers of skin in certain areas of the child’s body. The scalp is the most often affected area of the body. However, the legs, arms, and trunks may also be affected. Typically, a thin, translucent membrane is applied to the affected area.

The skull and underlying parts may be seen and grow abnormally. Aplasia cutis congenita can be the only abnormality present at birth or with other conditions.

SYMPTOMS

Aplasia cutis congenita causes localized skin and hair loss, commonly on the scalp (70%). Sometimes the legs, arms, and trunks are involved. Skin and bones may sometimes be missing. A thin, translucent membrane covers the damaged area(s). The translucent membrane may reveal diseased tissues and organs.

Most people with ACC have no other abnormalities. However, in rare cases, they may exhibit other physical characteristics, such as:

  • an abnormally large head (macrocephaly)
  • a kind of paralysis (palsy) that affects just one side of the face
  • congenital heart anomalies
  • ears abnormalities

ACC may also appear as a symptom of several different illnesses, including:

  • Johanson-Blizzard Syndrome
  • Aplasia Cutis Congenita-Gastrointestinal
  • Adams-Oliver Syndrome

DIAGNOSIS

Aplasia cutis congenita is often diagnosed at birth due to the distinct lack of skin affecting the arms, trunk, scalp, or legs.

Children with ACC should have a full medical assessment to identify whether this illness is present independently or as a subsequent symptom of another disorder.

Furthermore, if ACC develops spontaneously, affected children should be watched for symptoms and physical characteristics consistent with this condition.

TREATMENT

Aplasia cutis congenita medical treatments include calming, bland ointments to keep the membrane from drying. Antibiotics should only be taken if there are signs of a bacterial infection. The wounded area typically heals on its own.

Surgical therapy may involve the repair of numerous scalp abnormalities, which typically, but not always, respond to less traumatic techniques like skin grafts. Tissue expanders may be used to fill up significant regions, or flap rotation may be used to ease a piece of skin over an affected part.

Affected people and their families may benefit from genetic counseling.

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