Increased levels of 4-hydroxynonenal modified proteins in plasma of children with autoimmune diseases.

Analysis of serum samples of healthy children (n = 11) and children with Systemic Lupus Erythematosus (SLE), (n = 21) was performed by SDS-PAGE and immunoblot with an antibody directed against proteins modified by lipid peroxidation (LPO) product 4-hydroxynonenal (HNE). A single major stained protein band was detected. By comparison of the molecular weights in nonreducing and reducing SDS-PAGE was found that the main protein modified by HNE is immunoglobulin G. Significantly higher concentrations of the aldehyde modified protein were found in children with high disease activity of SLE measured by SLE disease activity index (SLEDAI). Lipid peroxidation measured by malondialdehyde and 4-hydroxynonenal concentrations show an enhanced level of both compounds also in patients with the active autoimmune disease. Therefore, it can be assumed that free radical mediated processes play a pathophysiological role in the active phase of SLE and HNE-modified serum proteins are a further parameter for the detection of in vivo LPO.

Patchy dermal hypoplasia as a characteristic feature of Proteus syndrome.

BACKGROUND: The diagnostic criteria of Proteus syndrome include various lesions of localized overgrowth such as digital gigantism, hemihyperplasia with unilateral macrocephaly, epidermal nevus, and mesodermal hamartomas such as lipoma, lymphangioma, hemangioma, or fibroma. Hyperplasia of the plantar dermal tissue may result in a characteristic cerebriform appearance. However, hypoplastic lesions involving various tissues such as subcutaneous fat or muscles also may be observed in this syndrome. This paradoxical phenomenon has so far been underestimated, and the presence of circumscribed lesions of dermal hypoplasia has been entirely ignored. OBSERVATIONS: We report 4 cases of Proteus syndrome associated with large patches of dermal hypoplasia, resulting in a more prominent appearance of venous vasculature. CONCLUSIONS: Patchy dermal hypoplasia appears to be a characteristic feature within the spectrum of Proteus syndrome. The anomaly should not be confused with partial lipohypoplasia that may likewise be associated with this multisystem birth defect. From a review of the literature, we conclude that patchy dermal hypoplasia may have occurred in several previous cases. In the future, recognition of this cutaneous anomaly may help to establish the diagnosis in otherwise doubtful cases. To explain the coexistence of lesions of dermal hyperplasia and hypoplasia, we propose the genetic concept of "twin spotting." At the gene locus of Proteus syndrome the embryo would carry 1 allele giving rise to dermal overgrowth, whereas the corresponding allele would be responsible for a diminished proliferation of cutaneous fibroblasts. Somatic recombination may result in 2 different populations of cells homozygous for either allele.

Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features.

A male patient presented with a congenital ichthyosis clinically characterized by generalized erythroderma, fine scaling on the trunk and palmoplantar hyperkeratoses with severely affected nails. The acanthotic epidermis was characterized by hyperproliferation with a large quantity of mitoses and extremely suppressed keratinization without a normal granular layer. The horny layer was parakeratotic and contained remnants of cell debris and lipid droplets. Ultrastructurally the prickle cell layer was characterized by binuclear cells, oedematization of the keratinocytes and isolated dyskeratotic cells. Some suprabasal cells showed unusual morphological features, containing nuclei with cytoplasmic pseudoinclusions, sometimes leading to a complete disintegration of the nuclear structure, and bowl- and lens-shaped accumulations of a filamentous material. Instead of normal tonofibrils, the aggregated material consisted of fine interlacing filaments. The latter are compared with the filamentous shells in ichthyosis hystrix Curth-Macklin and congenital reticular ichthyosiform erythroderma. The clinical symptomatology--congenital ichthyosis, growth retardation, secondary hypogonadism, hepatomegaly--and the ultrastructural characteristics of the keratinization disorder indicate that the present case cannot be considered as a subtype of the recessively inherited ichthyosis congenita group, but suggest a new syndrome as a separate nosologic entity.

[Detection of skin changes in children by preventive examinations]. / Zur Erfassung von Hautveränderungen bei Kindern durch Vorsorgeuntersuchungen.

The main symptoms of chronic skin diseases, genodermatoses, malformations of the skin and phacomatoses affecting the physical and psychological development of the child are described. The advantages of early diagnosis are emphasised and recommendations made for strategies of medical care.

Increased lipid peroxidation in children with autoimmune diseases.

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.

[Reactions and side effects of ovulation inhibitors on the skin]. / Wirkungen und Nebenwirkungen von Ovulationshemmern an der Haut.

PIP: An overview of dermatological diseases which occur in conjunction with oral contraceptive (o.c.) use is presented. An increase in pigmentation during o.c. use is attributed to an increase in the binding of cortisol with transcortin caused by the estrogen component, which leads to an increase in melanin-stimulating hormone production. Sebum production is decreased during o.c. use, which has a beneficial effect in cases of acne and seborrhea oleosa. This effect is most pronounced with preparations containing chlormadinon acetate, which has an antiandrogenic effect. O.C. use can influence hair growth by disturbing the balance between anagenic and telogenic hairs. Androgenetic alopecia is most often caused by preparations containing nortestosterone. Peroral dermatitits, lupus erythmatodes visceralis and similar disorders, and allergic skin reactions have been observed among o.c. users. Porphyria cutanea tarda is generally found in young women in conjunction with o.c. use, which can be related to liver dysfunctions. Vaginal candidosis is also more frequently found among o.c. users, particularly in conjunction with combination preparations. Herpes gestationes can occur during o.c. use, mainly among women who developed it during pregnancy. Progesterone appears to be responsible for provoking the condition. 166 patients who developed dermatological disorders during o.c. use were studied according to the preparation each used. Acne vulgaris improved more frequently among Ovosiston users. A marked increase in vaginal fluor indicated an increase in trichomoniasis and candida mycosis. In all observed cases of porphyria cutanea tarda, liver damage (hepatitis, cyrrhosis, or fatty liver) could be ascertained.^ieng

[Imaging subcutaneous atrophy in circumscribed scleroderma with 20 MHz B-scan ultrasound]. / Darstellung der subkutanen Atrophie bei der zirkumskripten Sklerodermie im 20-MHz-B-scan Ultraschall.

The technique of 20-MHz B-scan sonography is non-invasive and allows quantification of the different compartments of the skin. Seven patients with atrophic linear circumscribed scleroderma and one patient with guttate circumscribed scleroderma were examined by ultrasound. All patients were found to have a total or subtotal loss of subcutaneous fatty tissue, whereas the thickness of the dermis remained almost unchanged. These findings should lead to further investigation of the pathophysiological mechanism involved in subcutaneous atrophy in circumscribed scleroderma.

Zunich neuroectodermal syndrome: migratory ichthyosiform dermatosis, colobomas, and other abnormalities.

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.

[The value of humoral immune phenomena in children and adolescents with circumscribed scleroderma]. / Zum Aussagewert humoraler Immunphänomene bei Kindern und Jugendlichen mit zirkumskripter Sklerodermie.

Sera taken from 35 children and teen-agers with different clinic variants of the circumscribed scleroderma were investigated for the presence of FANA, anti-DNA-, anti-DNP-, anti-ENA-(extractable nuclear antigens)-, and anti-Ro/SSA-antibodies. In 85.7% of the patients, humoral immune phenomena were ascertainable. Whereas FANA above all in patients with clinically rapidly progredient running linear form (71%) were present, anti-dsDNA- and anti-DNP-antibodies may be worth as hint upon a visceral manifestation. Therefore, they may be valid as leading antibodies for a subset of the circumscribed scleroderma, which is being designated by extracutaneous participation and the skin mostly exhibit a linear variant. The frequency of the evidence of the characteristic immune phenomena in patients with circumscribed scleroderma, which are typically in systemic lupus erythematosus, is considered as hint to the immune pathogenesis of the disease. The functional defects of the kidneys, catched with the isotope-clearance refer to a possible systemic character of the disease-process. Humoral immune phenomena are suitable for differentiation of the cutaneous and extracutaneous progress forms, in which high titer of FANA with homogeneous pattern of fluorescence, anti-dsDNA- and anti-DNP-antibodies have a special importance. Compared to it anti-ssDNA-antibodies and anti-Ro/SSA-antibodies characterize the high degree of activity of cutaneous and extracutaneous progress forms.