No abstract

To examine the role of oxidative damage in children and adolescents with autoimmune diseases, we compared blood serum levels of the lipid peroxidation (LPO) products 4-hydroxynonenal (HNE) and malondialdehyde (MDA) in 22 children with systemic lupus erythematosus (SLE), 13 children with focal type of scleroderma, and 21 health controls. In order to study the influence of disease activity in SLE on serum LPO product levels, the SLE group was divided into one group with active disease (n = 11) and one group with non-active disease (n = 11) according to SLEDAI-score, 15.1 and 1.8, respectively. SLE patients with active SLE (146 +/- 14 nmol/l, median 145 nmol/l) have significantly higher HNE levels compared to controls (61 +/- 10 nmol/l, median 52 nmol/l), whereas the MDA serum levels are similar to those of the control group, 1.94 +/- 0.18 mumol/l (median: 2.02 mumol/l) and 1.58 +/- 0.11 mumol/l (median: 1.52 mumol/l), respectively. Children with SCL had HNE and MDA levels similar to the control group.

We report a 21-month-old girl with symptoms consistent with the Zunich neuroectodermal syndrome, an apparently rare condition first described in 1983. Common features of all previously reported patients as well as in this child are characteristic craniofacial dysmorphism, bilateral colobomas of the retina, sparse and fine hair, hearing loss, ichthyosiform erythroderma, mental retardation, ear anomalies, brachydactyly, and broad second toes. Light microscopic and ultrastructural investigations of the affected skin showed characteristic but nonspecific changes. The structural hair shaft abnormalities as well as the dysplastic nails in our patient have not been described before and are consistent with the previous assumption of an ectodermal dysplasia syndrome.