About aplasia cutis congenita
What is aplasia cutis congenita?
Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane. The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be the primary disorder or it may occur in association with other underlying disorders.
What are the symptoms for aplasia cutis congenita?
Wounds symptom was found in the aplasia cutis congenita condition
Individuals born with Aplasia Cutis Congenita lack skin (and therefore hair), in localized areas of the body, usually, but not always, on the scalp (70 percent of cases). In some cases, the trunk, arms, and/or legs may also be involved. Sometimes, the underlying bone may be missing as well as the skin. The affected area(s) are usually replaced with a thin transparent membrane. In some cases, these affected structures and other organs may be seen through the transparent membrane.
Most individuals with Aplasia Cutis Congenita exhibit no other abnormalities. However, in some rare cases, they may experience other physical characteristics including abnormalities of the ears, a form of Paralysis (palsy) affecting one side of the face, an abnormally Large head (macrocephaly), and/or congenital heart anomalies.
Aplasia Cutis Congenita may also occur as a physical condition characteristic of several other disorders, including Adams-Oliver Syndrome, Aplasia Cutis Congenita-Gastrointestinal, and Johanson-Blizzard Syndrome.
What are the causes for aplasia cutis congenita?
Aplasia Cutis Congenita is a rare disorder that may be inherited as an autosomal dominant or autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.
What are the treatments for aplasia cutis congenita?
Diagnosis of Aplasia Cutis Congenita is generally obvious at birth through the characteristic absence of skin affecting the scalp, trunk, arms, and/or legs.
Children diagnosed with Aplasia Cutis Congenita should receive a complete medical evaluation to determine whether this disorder is occurring on its own or as a secondary characteristic of another disorder. If Aplasia Cutis Congenita is occurring on its own, affected children should be monitored for symptoms and physical characteristics associated with this disorder.
Medical treatments of Aplasia Cutis Congenita include measures to prevent the drying out of the membrane by soothing, bland ointments. Antibiotics should be used only if signs of bacterial infection are present. The damaged area usually heals spontaneously.
Surgical care may include the repair of multiple scalp defects that usually, but not always, respond to procedures less traumatic than skin grafts. These may include such techniques as tissue expanders to fill in large areas or flap rotation to ease a piece of skin over an affected area.
Genetic counseling may be of benefit for affected individuals and their families.
Is there a cure/medications for aplasia cutis congenita?
Aplasia cutis congenita is a rare disorder that can cause significant skin loss at birth. Its diagnosis and treatment can be challenging, and there is currently no known cure. However, there are some effective treatments available that can help improve the appearance of the skin and minimize the risk of infection.
There is no established cure or medication for aplasia cutis congenita. However, the condition is often benign and does not require treatment. The rare condition can be effectively managed with the help of a multidisciplinary team, including dermatologists, plastic surgeons, and pediatricians.
1. In cases where there is significant skin loss or infection, treatment may be necessary. Treatment options include topical antibiotics or antifungals, wound care, and skin grafting.
- Antibiotics such as amoxicillin and cephalexin are often used to treat skin infections.
- Antifungals such as ketoconazole and clotrimazole may be used to treat fungal infections.
- Wound care is important in preventing infection and promoting healing. Skin grafting may be necessary in cases of severe skin loss.
2. In severe cases, aggressive treatment with intravenous antibiotics or immunosuppressive drugs may be necessary.
3. Some children with aplasia cutis congenita may also require psychiatric evaluation and support due to the psychological impact of the condition.
4. The degree of condition progression and specific type of symptoms decide the line of treatment. The rare condition can be effectively managed with the help of a multidisciplinary team, including dermatologists, plastic surgeons, and pediatricians.
Skin loss, Infection,Wounds,Psychological impact,Abnormality of bone mineral density
Skin loss,Absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs