Aplasia cutis congenita: Three cases with three different underlying etiologies

Division of Clinical Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
The Turkish journal of pediatrics (Impact Factor: 0.43). 09/2009; 51(5):510-4.
Source: PubMed


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.

Download full-text


Available from: Erkan Alpsoy, Aug 15, 2014
  • [Show abstract] [Hide abstract]
    ABSTRACT: Epidemiologic and experimental data support the notion that Ljungan virus (LV), endemic in some rodent populations in Sweden, Denmark, and the United States, can cause morbidity and mortality in animals and humans. LV infection can cause type I diabetes mellitus, myocarditis, and encephalitis in bank voles and experimental mice, and lemmings. Mouse dams infected with LV experience high rates of stillbirth that may persist across generations, and their fetuses may develop cranial, brain, and limb malformations. In humans, epidemiologic and serologic data suggest that LV infection correlates with intrauterine fetal death, malformations, placental inflammation, myocarditis, encephalitis, and Guillain-Barré syndrome. The proposed role of LV infection in SIDS is unconvincing. Further research is necessary to clarify the role of LV infection in animal and human disease.
    No preview · Article · Nov 2010 · Birth Defects Research Part A Clinical and Molecular Teratology