Aplasia Cutis Congenita.
Incidence
Autosomal dominant but there is also a recessive form. It is usually sporadic. Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance.
Clinical Characteristics
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. The hallmark of aplasia cutis congenita in the neonatal period is the presence of a solitary well-demarcated skin punch-out lesion. Multiple lesions may also occur. Aplasia cutis congenita must be differentiated from traumatic cutaneous lesions (fetal monitor injuries). Aplasia cutis congenita may be isolated or it may occur with Trisomy 13, 4p-syndrome, ectodermal dysplasia, and amniotic bands. Aplasia cutis in the hair whirl area is usually a benign finding. Neonates with aplasia cutis congenita in the craniofacial and lumbosacral regions should have an MRI or ultrasound to evaluate the central nervous system structures below it. Isolated aplasia cutis congenita is usually sporadic.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis.