Chang Ho Hong

Extensive form of aplasia cutis congenita: a new syndrome?

Aplasia cutis congenita is a heterogeneous group of conditions usually involving the scalp as well as any other part of the body and is associated with a number of other congenital anomalies. We report on a newborn male with almost complete absence of skin and subcutaneous tissue in association with choanal atresia, syndactyly, imperforate anus, pulmonary hypoplasia, and other anomalies. To our knowledge, this condition, not only in the extent of the lesion but the associated anomalies, has not been reported previously.

Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: Identification of a novel mutation

A 5-month-old Korean boy who presented with lethargy and cardiomyopathy was diagnosed with very long chain acyl coenzyme A dehydrogenase (VLCAD) deficiency by organic acid, fatty acid, acylcarnitine, and molecular genetic analysis. The patient was a compound heterozygote for mutations in the VLCAD gene. One allele contains a 3-bp deletion in exon 6, deleting glutamic acid in codon 130 (E130del ); this allele is of paternal origin. The patients maternally derived allele is a novel mutation, C1843T in exon 20, which creates a premature termination codon (R615stop ). Although molecular genetic characterization of VLCAD deficiency is limited to a few patients, heterogeneity of mutations is already apparent. However, the E130del is a relatively frequent mutant allele, which has been noted in 2 previously identified patients. The 2 mutant alleles in our patient appear to be responsible for his severe and fatal clinical manifestations.

Current health issues in Korean adolescents

During the adolescent period, they experience rapid physical, emotional, cognitive developments while they establish their lifestyle and habitual routines that strongly influence adult health and life. Recent rapid economic growth in Korea, and the earlier onset of physical, sexual, and psychological maturation of adolescents, has resulted in changes in the health status of adolescents from many years ago. Risk-taking behaviors such as drinking alcohol, smoking, and sexual experiences are critical issues that affect the health of, adolescents. Therefore, it is important for pediatricians to note the that risk-taking behaviors of adolescents in Korea that are caused by individual psychosocial factors. This review article illustrates the current health status of Korean adolescents and provides an overview of risk-taking behaviors, to inform pediatricians about some of the key issues.