Aplasia cutis congenita recessive
Overview
Aplasia cutis congenital - intestinal lymphangiectasia: A rare disorder characterized by a skin defect and dilated intestinal lymph vessels.
Diagnosis
Diagnosis of aplasia cutis congenita is made based on the physical appearance of the infant’s skin. No specific laboratory test is needed. Very large scalp defects, especially those with the hair collar sign, should be investigated for possible underlying bone or soft tissue defects.
Treatment
Usually the only treatment required for aplasia cutis congenital is gentle cleansing of the affected area and the application of a silver sulfadiazine or other ointment to prevent the patch from drying out. Most affected areas will heal on their own over several weeks, resulting in the development of a hairless scar.