ABSTRACT
Starting from 12 index patients with familial benign chronic pemphigus from 11 kindreds, systematic kindred examinations were carried out with 182 relatives. 11 pedigrees were established. In this process 6 patients out of 3 kindreds were identified additionally. 10 genotypic carriers of the disease were found of 30 examined relatives by a newly developed UV-provocation test. An autosomal-dominant hereditary pattern was proven for sure and with high probability, respectively, in 10 out of 11 kindreds by formal genetic genealogy-examinations. There was an incomplete penetrance in 3 kindreds. A sex-determined heredity of disease can be excluded. There was no association between familial benign chronic pemphigus and HLA-A, B, C-system.
Subject(s)
Pemphigus/genetics , Female , Genetic Carrier Screening , Genetic Markers/genetics , Genotype , Humans , Male , Middle Aged , Pedigree , Pemphigus/diagnosis , PhenotypeABSTRACT
The growth, differentiation, and regeneration of epidermal cultures from patients with X-linked and autosomal dominant ichthyosis and normal individuals were compared. Cell proliferation was studied by combining the technique of fluorescence-activated cell sorting with [3H]thymidine labelling and autoradiography. As in normal epidermal cultures, a marked heterogeneity in the labelling intensity of S-phase cells was observed in the ichthyotic cultures with totally unlabelled as well as very strongly labelled cells. However, in contrast to normal cultures, by far the largest proportion of S-phase cells in the ichthyotic cultures were very strongly labelled with a corresponding, severe reduction in the proportion of un- and weakly labelled cells. The increased labelling intensity of S-phase cells was observed in primary as well as in regenerating cultures, although it was most pronounced in the latter case. There was no difference between cultures from the two types of ichthyotic skin. The morphologic differentiation in the cultures was assessed by measurement of mean diameter of sorted S-phase cells and by quantitation of cornified envelop formation. Both parameters were reduced in the ichthyotic cultures, compared with normal ones. Taken together, these findings are indicative of a hyperproliferative state in the ichthyotic cultures.
Subject(s)
Epidermis/pathology , Ichthyosis/pathology , Biopsy , Cell Count/methods , Cell Differentiation , Cell Division , Cell Movement , Cells, Cultured , Flow Cytometry/methods , Genetic Linkage , Humans , Ichthyosis/genetics , Interphase , X ChromosomeABSTRACT
By means of a patient suffering from epidermolytic hyperkeratosis, epidermolytic hereditary palmoplantar keratoderma VORNER and epidermolytic hystric nevus the relations of this keratinization disorders are shown. The different clinical symptoms in several patients are probable caused by pleiotropy.
Subject(s)
Acantholysis/genetics , Cytoplasmic Granules/ultrastructure , Epidermodysplasia Verruciformis/genetics , Epidermolysis Bullosa/genetics , Keratoderma, Palmoplantar/genetics , Skin Diseases/genetics , Adult , Humans , Male , Pedigree , Phenotype , Skin/pathologyABSTRACT
Three families segregating for X-linked ichthyosis (XLI) were analysed using the full-length STS cDNA probe and an anonymous polymorphic DNA sequence closely linked to the STS gene. In patients from two of the families, submicroscopic chromosomal deletions could be detected using both the STS and the GMGX9 (DXS237 locus) probes. Patients in the third family showed the same hybridization pattern as healthy males following molecular hybridization with either of the probes. The results of DNA analysis (indirect genotype diagnosis) agree well with those based on the arysulfatase C/beta-gal determination and prove the reliability of the biochemical test. Both methods are discussed for carrier detection, prenatal diagnosis, and genetic counseling.
Subject(s)
Ichthyosis/genetics , Arylsulfatases/deficiency , Chromosome Deletion , DNA Probes , Female , Genetic Carrier Screening/methods , Genetic Counseling , Humans , Ichthyosis/diagnosis , Male , Pedigree , Steryl-Sulfatase , beta-Galactosidase/bloodABSTRACT
Report on the epidermolytic hyperkeratosis (congenital bullous ichthyosiform erythroderma) by means of a family suffering from this hyperkeratosis. Diagnostic advices are given. Classification and nomenclature are discussed criticly.
Subject(s)
Acantholysis/genetics , Cytoplasmic Granules/ultrastructure , Epidermolysis Bullosa/genetics , Skin Diseases/genetics , Acantholysis/pathology , Adult , Epidermolysis Bullosa/pathology , Humans , Male , Pedigree , Skin/pathologyABSTRACT
In Triton X-100 solubilized leukocytes of 17 patients and 8 obligate carriers of X-linked recessive ichthyosis (XLI) the activity of arylsulphatase C (ASC) was determined and expressed as the ratio to beta-galactosidase activity. The ASC/beta-gal ratio of XLI patients is markedly decreased (range 0.07-0.48) in comparison to the corresponding control group of males (range 1.3-2.7). The enzyme ratios of 8 obligate carriers of XLI are decreased (range 0.90-1.9) in comparison to the normal females (2.13-5.52). These results indicate that the determination of the enzyme ratio of ASC/beta-gal in Triton X-100 solubilized leukocytes is a sensitive test for biochemical identification of patients and probably of carriers of XLI.
Subject(s)
Arylsulfatases/blood , Heterozygote , Ichthyosis/enzymology , Leukocytes/enzymology , Sulfatases/blood , Arylsulfatases/isolation & purification , Female , Humans , Ichthyosis/genetics , Male , Octoxynol , Polyethylene Glycols/pharmacology , Steryl-Sulfatase , beta-Galactosidase/analysisSubject(s)
Kaposi Varicelliform Eruption , Adolescent , Aged , Animals , Child , Child, Preschool , Disease Models, Animal , Encephalitis/etiology , Female , Humans , Infant , Kaposi Varicelliform Eruption/microbiology , Kaposi Varicelliform Eruption/physiopathology , Liver/pathology , Male , Mice , Mice, Inbred Strains , Necrosis , Neutralization Tests , Simplexvirus/isolation & purification , Simplexvirus/pathogenicity , VirulenceABSTRACT
Report on several clinical and histological variants of lichen sclerosus et atrophicus by means of two cases.
Subject(s)
Skin Diseases/pathology , Adult , Aged , Female , Humans , Skin Diseases/diagnosisSubject(s)
Pressure/adverse effects , Skin Diseases/etiology , Adult , Female , Humans , Skin/pathologyABSTRACT
Desensibilitation as a causal therapy in Pollinosis gets increasing importance in the last decennium. The rate of successful results is reported with 50-80 per cent. In general the rate of secondary effects by this therapy is very low. By use of Aluminium oxide as a material of depot the possibility of producing strange body granuloma must be considered. Own experience in this case is reported.
Subject(s)
Delayed-Action Preparations/adverse effects , Desensitization, Immunologic/adverse effects , Foreign-Body Reaction/etiology , Pollen , Respiratory Hypersensitivity/therapy , Adolescent , Aluminum Hydroxide/adverse effects , Female , Granuloma/chemically induced , Humans , Skin Diseases/chemically inducedABSTRACT
Report on a 16 years old female patient suffering from pollinosis and asthma. After desensitization with Mischpollen-Depotallergen foreign body granulomas developed in the injection areas. By fluorescence histochemical examination aluminiumhydroxid was found as cause. The increasing possibility of this side effect by more frequent employment of aluminium-hydroxid, for example in the production of vaccine, is directed on.
