About scalp defect congenital

What is scalp defect congenital?

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 scalp defect congenital?

Abnormal ears symptom was found in the scalp defect congenital 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 scalp defect congenital?

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 scalp defect congenital?

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.

What are the risk factors for scalp defect congenital?

Aplasia Cutis Congenita is a very rare disorder that affects males and females in equal numbers. At least five hundred cases have been reported in the medical literature. Absence of skin is obvious at birth (congenital).

Is there a cure/medications for scalp defect congenital?

Congenital scalp defects include various conditions of the newborn where there is an absence of skin and sometimes underlying structures of the scalp. These areas on the scalp are of varying sizes and are often hairless.

These are most known as Aplasia Cutis Congenita (ACC) and previously called Congenital Ulcer or Streeters spots.

  • Line of treatment generally depends upon the size, width, depth, and location of the defect.
  • Usually, most of the small lesions heal spontaneously over time; however, they may leave a scar.
  • Most of the non-surgical treatments will have a combination of wound protection, infection prevention and nutrient supplementation.
  • Doctors follow local therapy for gentle cleansing and applying bland ointments.
  • They will administer systemic antibiotics in case of infection.
  • Some cases with large lesions and multiple defects may need surgery.
  • Specialists will cover these lesions using full-thickness skin flaps at an early stage to avoid sepsis & hemorrhage.
  • A few conditions require Tissue expanders, Skin and Bone grafting procedures.

Ulcers,Infection,Hairless Scalp,Sepsis,Hemorrhage
Aplasia Cutis Congenita (ACC),Congenital Ulcer,Streets spots,Skin loss on Scalp,Distorted hair growth on the scalp in infants
Systemic Antibiotics

Video related to scalp defect congenital