The aplasia cutis congenita is a congenital or intrauterine-endowed disease, a congenital aplasia of the cutis. It is usually found localized on the head, but there are also frequent findings on the ears, nose, throat, eyes and other limbs. The round or oval skin defects reach a size between 1-10 cm 2. Diameter, are usually well demarcated and occur individually or increasingly on the vertex.
It occurs in newborns and is not always easily recognizable because of its great variability. The cause may be infections, malformations, amnion defects, teratogenic drugs, as well as genetically determined mutations in the BMS1 gene at the locus 10q11.21. Arterial hypertension or maternal diabetes may affect the circulation in the scalp capillaries. The "aplasia cutis congenita" is part of several syndromes, such as trisomy 13.
9 different types are described below.