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 on the first German "melanoma screening week" (Offenbach Melanoma Week). According to the model of the Melanoma/Skin Cancer Detection Week in Dayton/Ohio, the population of Offenbach (100.000 inhabitants) were informed about cutaneous malignant melanoma and its early recognition by means of public media, in particular the local press; the people were asked to participate in a voluntary screening including examination of the entire skin. These examinations were offered in 5 local dermatological practices on 5 working days during the European Week Against Cancer in May, 1988, under the auspices of the Hessian Cancer Society. With 2 to 4 dermatologists daily volunteering, a total of 697 persons were screened. Their average age was 48 years. An illustrated brochure ("Red Light for Black Cancer") with instructions for self-examination of the skin served as a consultation basis and memory aid. The screening week was concluded by a 3-hour's question time ("The citizen asks - the expert answers"). The most surprising result of this campaign was the fact that - contrary to earlier experience - 76% of the persons seeking advice were well aware of "black" cancer. The sole new melanoma detected was an extended lentigo maligna melanoma on the right cheek, which had not been noted during a prophylactic medical examination (!) 2 weeks before. The high public awareness of melanoma and the extremely low percentage of undetected melanomas in Hesse are most probably the result of the 8-year's educational campaign against "black" cancer.
Recent advances in exogenous factors known to cause embryopathies are reviewed. Among the non-infectious agents alcohol is the most important, followed by a combination of anticonvulsant drugs, valproic acid, retinoic acid, lithium, coumarin derivates, methyl mercury, aminopterin and methotrexate, cocaine and amniogenic bands. Rubella embryopathy is well known. Varicella zoster and herpes simplex type II viruses are now also known to be teratogenic in some cases. Erythema infectiosum has recently been detected as a cause of embryonic death. Diabetic women and women with phenylketonuria must be carefully examined before and during pregnancy. There does not seem to be a world trend towards increased frequency of genetically and non genetically conditioned malformations.
We report on seven children with Angelman syndrome presenting with psychomotor retardation during the 1st year of life. Seizures developed in six patients, and computed tomography (CT) scanning showed diffuse atrophy of the brain in five patients. We conclude that diagnosis is difficult in the first years of life. A review of the literature is given.
Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).
We report on the sensitization of a baker against alpha-amylase contained in a dough additive. Positive test reactions to alpha-amylase were observed after 20 min., 6 h, and 72 h, even following heat inactivation. Specific IgE, IgG, and IgM antibodies could be proved in the serum. We assume mixed reactions of type I, III and IV.
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A female newborn of healthy parents demonstrates the combination of postaxial hexadactyly type B of the hands (X-ray investigations show in addition duplicated terminal phalanges of the thumbs), preaxial hexadactyly of the toes, partial and total syndactyly of the fingers and toes. These findings are compatible with the diagnosis of Greig cephalopolysyndactyly syndrome. Dyscrania can not be demonstrated. In addition, our patient exhibits genu recurvatum on the left side resulting from intrauterine deformation. Sonography of the head reveals normal formation of the corpus callosum. The neurological status of our baby is inconspicious, and the psychomotor development up to the age of 2 5/12 years normal. The differential diagnosis of this characteristic combination of pre- and postaxial polydactyly has to consider the acrocallosal syndrome. In sporadic cases of Greig cephalopolysyndactyly syndrome it is important to investigate and follow the neurological status of the patients and in particular to use sonography to document the intact corpus callosum. Patients with Greig cephalopolysyndactyly syndrome have a normal development, children with the acrocallosal syndrome are retarded.
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.