ABSTRACT
Echotomography (Figure 16.11) is diagnostic, especially for large lesions, which are associated with fetus papyraceus.
• Most cases are sporadic, but dominant (Figure 16.12) and, less frequently, recessive and mosaic forms have been documented. Autosomal-dominant aplasia cutis is due to BMS1 gene defect. The mutated ribosomal GTPase BMS1 interferes with pre-ribosomal RNA processing and led to a reduced cell proliferation rate.
