VACTERL plus hydrocephalus: a monogenic lethal condition.
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Biomedical subjects
Publications and source records attributed to J Kunze.
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A 56-year-old woman with the typical clinical feature of cicatricial bullous pemphigoid of the Brunsting-Perry type was studied. Histologic examination of a lesion skin biopsy specimen demonstrated a subepidermal blister. Direct immunofluorescence microscopy revealed linear deposits of IgG, IgM, and C3 located on both the roof and the floor of the blister. Immunofluorescence antigen mapping using cryostat sections of a spontaneous blister and antisera against defined basement membrane components localized the bullous pemphigoid antigen and type IV collagen in the roof of the blister. This dermal type of blister formation was confirmed by electron microscopy, which showed the cleavage level below the lamina densa. In direct immunoelectron microscopy, granular deposits of C3 and IgG were found attached to and just beneath the lamina densa in a pattern identical to the distribution of anchoring fibrils. These findings are diagnostic of acquired epidermolysis bullosa, a blistering disease that has much more clinical heterogeneity than previously suggested.
Two female patients developed an allergic contact dermatitis after using Dermatop cream and -ointment for several weeks. Patch tests were positive with the reagent prednicarbate itself. No cross reactions to other glucocorticosteroids were observed. Type-IV-sensitization to glucocorticosteroids should be considered if chronic dermatitis does not improve, or even becomes worse, in spite of adequate therapy. With regard to possible cross reactions or multiple sensitization, epicutaneous tests with other glucocorticosteroids are necessary.
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We report on a 27-year-old male patient suffering from multiple trichoepitheliomas, which first appeared on his face at the age of 15 and later spread to his upper extremities and back. Multiple trichoepitheliomas are benign tumors of the skin appendages with autosomally dominant heredity. Clinically, these lesions have to be differentiated from other adnexal tumors, adenoma sebaceum, as well as basal cell nevus syndrome (Gorlin-Goltz's disease).
Two female patients developed localized scleroderma on the trunk and the thighs after oral ingestion of L-tryptophan for some years. Both patients reported acute progressive myalgia and weakness of the proximal parts of the extremities. On laboratory evaluation, the leucocyte count was approximately 20,000/mm3, with 38% blood eosinophils in one patient and 53% in the other. The ESR was slightly elevated; electrophoresis and muscle enzymes were normal. Skin and muscle biopsies revealed characteristic features of diffuse fasciitis with eosinophilia. High-dose glucocorticoid therapy resulted in a rapid normalization of the ESR and blood eosinophilia, whereas the scleroderma showed little improvement. The diffuse edema observed in one patient receded within a few days. A correlation between oral ingestion of L-tryptophan and the eosinophilia-myalgia syndrome has been reported recently, and the present case reports must be discussed in the light of this observation. Both patients developed a tryptophan-induced scleroderma-like illness resembling diffuse fasciitis with eosinophilia (Shulman's syndrome).
We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.
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Sézary syndrome and mycosis fungoides, both malignant Non-Hodgkin lymphomas, although characterized as specific entities, show a close relationship. This is based on striking similarities not only uith respect to morphological, cytophotometrical, cytogenetical and immunological findings, but also with respect to a typical common reaction pattern to photochemotherapy.
Therapeutical possibilities and side effects of intrafocal BCG-vaccination into metastases of malignant melanomas are discussed. Only in one of our three cases, this special method of unspecific immunstimulation induced a remarkable regression of tumor size. The second patient showed a partial remission and in the third there was no effect at all. Besides local irritation with ulceration we observed severe generalized side effects in all patients. A granulomatous hepatitis, which represents the most severe complication of this therapeutical method, occurred in one case. Its successful treatment with tuberculostatic agents favors the assumption of an infectious genesis.
The pre- and postnatal clinical, cytogenetic and embryological findings in a family suffering from trisomy 9p and spinal muscular atrophy are presented. The clinical picture of the "trisomy 9p" -syndrome is delineated. Concurrence of autosomal aberration and spinal muscular atrophy, probably of the Werdnig-Hoffmann type, is discussed.
In order to increase our knowledge about the distribution pattern of the trace mineral cobalt in fish, cobalt contents of tissues and inner organs of rainbow trout were analysed. Cobalt determinations were performed by flameless atomic-absorption-spectroscopy with a heated graphite analyzer after digestion of the organic material with concentrated nitric acid in a closed system under pressure (pressure decomposition). In order to concentrate and separate the trace cobalt quantities from the main matrix constituents a micro-solvent-extraction system with ammonium pyrrolidinedithiocarbamate (APDC) as heavy metal chelating reagent and toluene as extraction solvent was developed. The extraction procedure yielded a recovery of more than 95% as determined the use of an isotope method (radiotracer experiments with Co-57). Results (calculated on wet weight basis) showed that the element under study was mainly accumulated in the kidney (0.195-0.449 microgram/g). Smaller amounts were found in blood (0.038-0.090 microgram/g), spleen (0.015-0.078 microgram/g, and liver 0.015-0.068 microgram/g). The values for skeletal and muscle tissue were low and ranged from 0.007 to 0.014 microgram/g a 0.002 to 0.007 microgram/g respectively.
We report a newborn with incontinentia pigmenti Bloch-Sulzberger and male phenotype. Chromosome analysis revealed a Klinefelter's syndrome 47,XXY. These findings are compatible with the hypothesis of dominant sexlinked genes carried on the X-chromosome in this disease.
We report on cytogenetic studies of a malformed fetus, whose clinical symptoms indicated the diagnosis of triploidy. This was confirmed by chromosome analysis of peripheral lymphocytes of cord blood. Using the C-banding method it was possible to identify the origin of the extra haploid set: marker chromosomes indicate, that nonreduction of the first meiotic division in the father's spermiogenesis most probably leads to triploidy. However, in our case fertilization of the zygote by two sperms cannot be excluded.
Cytogenetic studies of an 8-year-old caucasian girl with typical but mild manifestation of Bloom's syndrome showed a characteristic increase of homologous chromatid translocations and prematurely condensed chromosomes. The average frequency of sister chromatid exchanges (SCE) in lymphocytes with 133 was much higher than in skin fibroblasts with 49. The inter- and intrachromosomal distributions of SCE in lymphocytes were analyzed.
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We report a 10 year old girl with psychomotor retardation, myoclonic syndrome and extreme photosensitivity. Clinical symptomatology and EEG-findings were not compatible with any of the known myoclonic syndromes. The patient's remarkable phenotype with short stature, dystrophy, facial dysmorphia characterized by antimongoloid palpebral fissures, broad root of the nose, coarse nose, inner epicanthic folds, dysplasia of the external ears, higharched palate, syndactylism between 2nd and 3rd toes on both sides, small narrow hands is suggested of a chromosomal disorder. A ring-shaped chromosome of the G-group (21--22) could be found. After using the Giemsa- and C-banding technique this chromosome could be identified as number 21. Patients with ring chromosome 21 or 22 are phenotypically not distinguishable. This is due to duplication-deficiency-variability of ring chromosomes in growing somatic tissues. The cellular genotype of ring chromosomes varies between monosomy, trisomy and polysomie.