Question: What is (are) Aplasia cutis congenita ?
Answer: Aplasia cutis congenita is a condition in which there is congenital (present from birth) absence of skin, with or without the absence of underlying structures such as bone. It most commonly affects the scalp, but any location of the body can be affected. While most people with aplasia cutis congenita have no other abnormalities, some people have congenital malformations involving the cardiovascular (heart), gastrointestinal, genitourinary, and central nervous systems. The cause of this condition is unclear and appears to be multifactorial (many different factors appear to play a role); contributing factors may include teratogens, genes, trauma, and compromised skin perfusion.
Source: GARD

Question: What are the symptoms of Aplasia cutis congenita ?
Answer: What are the signs and symptoms of Aplasia cutis congenita? The Human Phenotype Ontology provides the following list of signs and symptoms for Aplasia cutis congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Skull defect 90% Spinal dysraphism 90% Skin ulcer 50% Abnormality of bone mineral density 7.5% Abnormality of coagulation 7.5% Facial palsy 7.5% Aplasia cutis congenita over the scalp vertex - Autosomal dominant inheritance - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Aplasia cutis congenita ?
Answer: What causes aplasia cutis congenita? There is no one cause for all cases of aplasia cutis congenita. The condition is thought to be multifactorial, which means that several factors likely interact to cause the condition. Factors that may contribute include genetic factors; teratogens (exposures during pregnancy that can harm a developing fetus) such as methimazole, carbimazole, misoprostol, and valproic acid; compromised vasculature to the skin; and trauma. Some cases may represent an incomplete or unusual form of a neural tube defect. Familial cases of aplasia cutis congenita have been reported. Cases that appear to be genetic may be inherited in an autosomal dominant or autosomal recessive manner.
Source: GARD

Question: What are the treatments for Aplasia cutis congenita ?
Answer: How might aplasia cutis congenita be treated? The management of aplasia cutis congenita of the scalp is controversial.; both surgical and conservative treatment modalities have their proponents and opponents. The decision to use medical, surgical, or both forms of therapy in aplasia cutis congenita depends primarily on the size, depth, and location of the skin defect. Local therapy includes gentle cleansing and the application of bland ointment or silver sulfadiazine ointment to keep the area moist. Antibiotics may be utilized if overt signs of infection are noted. In many cases, other treatment is not necessary because the erosions and the ulcerations almost always heal on their own. Recently, a variety of specialized dressing materials have been developed and used. Surgical repair is not usually indicated if the defect is small. Recovery is generally uneventful, with gradual epithelialization and formation of a hairless, atrophic scar over several weeks. Small underlying bony defects usually close spontaneously during the first year of life. Surgical repair of large or multiple scalp defects may require excision with primary closure, if feasible, or the use of tissue expanders and rotation of a flap to fill the defect. On occasion, skin and bone grafts may also be required.
Source: GARD