The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 5
Aplasia Cutis Congenita: Three Cases with Three Different Underlying Etiologies
Divisions of 1Clinical Genetics and 2Neonatology, Department of Pediatrics, and Departments of 3Medical Biology and
Genetics, and 4Dermatology and Venereology, Akdeniz University Faculty of Medicine, Antalya, Turkey
Aplasia cutis congenita (ACC) is an uncommon condition in which localized
or widespread areas of skin are absent or scarred at birth. There is no
single underlying cause of ACC, as it simply represents a physical finding
that reflects a disruption of intrauterine skin development. Here we report
three cases of ACC of the scalp with three different etiologies: congenital
rubella syndrome, trisomy 13 and fetal valproate syndrome. The aim of the
present report is to increase awareness of these skin defects and emphasize
the importance of underlying etiologies.
Keywords :
aplasia cutis congenita, trisomy 13, fetal valproate syndrome.