Denaturing gradient gel electrophoresis analysis of the hemochromatosis (HFE) gene: impact of HFE gene mutations on the manifestation of porphyria cutanea tarda.
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Electrophoresis↗
Biomedical subjects
F Brandrup
Publications and source records attributed to F Brandrup.
[Atopic dermatitis].
Nowadays about 15% of a birth cohort develops atopic dermatitis of varying severity, while only about 3% were affected in the sixties. The pathogenesis of the disease is multifactorial, based on genetic (polygenic inheritance) and environmental factors, the latter presumably accounting for the rising incidence. Several genes of importance for the immune pathogenesis of atopic diseases, including atopic dermatitis, have been identified. Exogenous factors, for instance air humidity and colonization of the skin with Staphylococcus aureus and Pityrosporum ovale are also important in the pathogenesis. Specific allergies, for instance dust mite allergy and food allergy, may be contributory causes. Treatment is directed against the dry skin, the eczematous reaction, skin infections and potential, specific allergies. Information given to patients and parents through "eczema schools" might be an important part of therapy with focus on atopic diseases, treatment strategy and prevention.
Child, Preschool↗
Oral terbinafine in toenail dermatophytosis. A double-blind, placebo-controlled multicenter study with 12 months' follow-up.
The treatment of onychomycosis has previously often been protracted and unsuccessful. Terbinafine has been shown to be effective in short-term regimens. In this double-blind, placebo-controlled study, 148 patients with toenail dermatophytosis were randomized to treatment with either 250 mg terbinafine daily or placebo for 3 months. An additional treatment was given for 3 months to patients whose infection had not responded. The patients were followed clinically and mycologically through 12 months. After 3 months 82% of the terbinafine-treated group, versus 5% of the placebo group, showed significant improvement, i.e. negative culture and growth of unaffected nail more than 2 mm (p = < 0.0001). After 12 months clinical and mycological cure was seen in 40% of the patients treated with terbinafine for 3 or 6 months, while 67-81% were clinically cured, but with positive microscopy. Side-effects occurred in 13.5% of the terbinafine group, versus 5.4% of the placebo group, and were mild. 250 mg terbinafine daily for 3 months was significantly more effective than placebo. The efficacy did not appear to improve with additional treatment for 3 months.
Administration, Oral↗
Long-term follow-up of toe-nail onychomycosis treated with terbinafine.
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Antifungal Agents↗
Flow-cytometric investigation of epidermal cell characteristics in monogenic disorders of keratinization and their modulation by topical calcipotriol treatment.
A flow-cytometric study was performed in monogenic disorders of keratinization, to assess DNA distribution as well as the expression of keratins and involucrin. In addition, the changes in expression of these markers under influence of calcipotriol treatment were investigated. Proliferation, measured by the percentage of epidermal cells in SG2M-phase of the cell cycle, was increased in Darier's disease, lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, whereas normal proliferation was found in autosomal dominant ichthyosis vulgaris, X-linked recessive ichthyosis, keratosis pilaris, ichthyosis bullosa of Siemens and the Sjögren-Larsson syndrome. Keratin 6 was enhanced in erythrodermic lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, showing also reduction of keratin 10. Involucrin was only slightly reduced in erythrodermic lamellar ichthyosis, congenital bullous ichthyotic erythroderma of Brocq and the Comel-Netherton syndrome, compared to the pronounced reduction in all other skin disorders studied. Calcipotriol was found to enhance differentiation in Darier's disease, erythrodermic lamellar ichthyosis, and congenital bullous ichthyotic erythroderma of Brocq. Only Darier's disease did not show clinical improvement. In conclusion, flow cytometry provides a useful method for quantification of epidermal cell characteristics in monogenic disorders of keratinization. Further studies need to be performed to establish its usefulness as a diagnostic and prognostic tool.
Administration, Topical↗
[Trichothiodystrophy. Hair examination as a diagnostic tool].
Trichothiodystrophy is a neuroectodermal syndrome with features of a specific hair dysplasia associated with disorders in organs derived from ectoderm and neuroectoderm. The key finding is brittle hair with low sulfur content. Polarizing microscopy shows alternating dark and light bands with trichoscisis and absent or defective cuticle. Patients with trichothiodystrophy have short, sparse, dry and easily broken hair. Growth retardation and mental retardation are almost obligatory findings. The skin and the nails are very often affected; other neuroectodermal disorders are associated, but none is a constant feature. The disease is transmitted as an autosomal recessive trait.
Child↗
Correction of steroid sulfatase deficiency by gene transfer into basal cells of tissue-cultured epidermis from patients with recessive X-linked ichthyosis.
To develop an experimental model for somatic gene therapy we have tried to correct the steroid sulfatase (STS) deficiency in tissue-cultured primary epidermal keratinocytes from patients suffering from recessive X-linked ichthyosis. An efficient Epstein-Barr virus-based vector was constructed, in which full-length steroid sulfatase cDNA is located between an SV40 early promotor and processing signals. After STS gene transfer into cultured basal cells from ichthyotic skin, the cells produce large amounts of enzymatically active steroid sulfatase protein. The subpopulation of transfected cells can be made to produce approximately 100 times more STS activity than normal keratinocytes. Keratinocytes from patients suffering from recessive X-linked ichthyosis display an abnormal phenotype when developing a multilayered tissue in culture: Initially an extensive burst of keratinization is observed, followed by rapid, premature shedding and degradation of most suprabasal cell layers, leaving a culture with hyperproliferative relatively immature keratinocytes. Transfection of these immature ichthyotic cells with the functional STS construct led to an increase in the amount of retained cell material in the culture medium, indicating an increased cell maturation. It is possible to genetically label individual transfected epidermal cells with a reporter gene. Cotransfection experiments with STS and reporter gene vectors show that the cohort of transfected cells had a tendency to develop less rapidly since they became overrepresented in the smaller size classes at the same time the total population was somewhat shifted toward higher cell sizes. We interpret these results as an indication that restoration of the enzymatic activity induces a more normal maturation of the transfected keratinocytes.
Arylsulfatases↗
[HIV testing and HIV surveillance of a venereological clientele in Denmark].
The object of this investigation was to evaluate the suitability of unlinked anonymous HIV screening of persons visiting one of eight out of the nine Danish clinics for venereal diseases in the national HIV surveillance. Data were collected during the period July 1, 1990-March 31, 1991 and included: gender, sexual orientation, history of intravenous drug use (IVDU), syphilis testing and HIV testing. A total of 7,455 persons participated of whom 75% were tested for HIV antibodies. The HIV test activity was significantly higher among male IVDUs than homo/bisexuals, and higher among female IVDUs than heterosexuals. The overall HIV prevalence among tested individuals was 0.6%, ranging from 0.1% among heterosexual women to 5.3% among female IVDUs. A total of 81% were tested for syphilis with an overall HIV prevalence of at least 1.1%, ranging from 0.2% among heterosexuals to 9.3% among homo/bisexual men. Since the non-participation is great and the venereological clientele is very heterogeneous, using blood taken for syphilis serology from this group for unlinked anonymous HIV screening, would not be particularly important as a supplement to the Danish HIV surveillance.
Denmark↗
[Atopic dermatitis--many causes and therapeutic possibilities].
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Dermatitis, Atopic↗
[Cholesterol microemboli].
Cholesterol microemboli are caused by cholesterol crystals released from arteriosclerotic plaques in the major arteries. The clinical picture is illustrated by two case histories with symptoms in the form of myalgia, livedo reticularis and gangrene. The diagnoses were verified by demonstration of cholesterol crystals in the affected tissue. The pathogenesis is illustrated and, on the basis of the literature, it is emphasized that cholesterol microemboli are probably often overlooked clinically and that an increasing incidence must be anticipated on account of the increasing frequency of invasive procedures and treatments of arteriosclerotic vascular disease.
Aged↗
[Allergy without waiting lists].
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Denmark↗
Cutis laxa: autosomal dominant inheritance in five generations.
Cutis laxa is described in three cases: a 17-year-old man, his mother and his maternal grandmother. The onset of skin symptoms occurred from puberty to early adulthood. The skin was loose-hanging, wrinkled and without elasticity. X-ray examination showed numerous gastrointestinal diverticulae in the two older patients, and both had been operated on for abdominal hernia and genital prolapse. There were no cardiopulmonary symptoms. Histopathological investigation showed a reduction in the amount of elastic tissue in the dermis, but normally localized and ultrastructurally normal components. The family history revealed clinically similar cases in at least five generations, consistent with autosomal dominant inheritance.
Adolescent↗
Nickel eyelid dermatitis from an eyelash curler.
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Adult↗
Immunohistochemical studies on the localization of fetal antigen 2 (FA2), laminin, and collagen type 4 in basal cell carcinoma.
The localization of fetal antigen 2 (FA2), a recently described basement membrane (BM) associated antigen, was studied by immunohistochemical techniques in 21 basal cell carcinomas (BCC). In both superficial and infiltrating BCC, FA2 was located in a broad diffuse band around the tumor elements and in close contact with the BM. Compared to normal skin, a more extensive distribution of FA2 was seen in BCC. In the infiltrating BCC, FA2 staining was also present in the interstitial stroma between the tumor islands. FA2 was absent in areas with inflammatory cell infiltrates and elastoid degeneration. Epithelial and tumor cells were FA2 negative. The distribution of FA2 was clearly different from that of laminin and collagen type 4. Collagen type 4 and laminin were present as a continuous linear band corresponding to the BM surrounding the tumors. The close contact to the BM and the increased content of FA2 in the reactive stroma around BCC suggest that FA2 is involved in the matrix and/or BM changes taking place during tumor growth and invasion.
Antigens↗
Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations.
We describe a Danish family of four generations suffering from hypotrichosis of the scalp. Age at onset was 6-17 years and almost total scalp alopecia was reached by the age of 14-21 years. No associated ectodermal defects were present. Nine of 22 persons covering four generations were affected. Growth of the scalp hair slowly decreased and was accompanied by a gradual, diffuse hair loss without regional variation. A scalp biopsy was performed, revealing a non-scarring alopecia with features of androgenetic alopecia. The pedigree was compatible with autosomal dominant inheritance.
Adult↗
[Treatment of scabies now as the dixanthogen ointment 5 and 10 per cent is no longer available].
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Benzoates↗
[Factitious purpura].
Three identical case histories consisting of circular delimited petechial purpura around the mouth and chin in children aged 13-15 years are presented. This form of purpura was undoubtedly due to self-mutilation by establishing of a vacuum over the skin produced by a tumbler from which the air had been partially aspirated. This is regarded as a symptom of hysterical conversion on account of stressing conditions at home or in school. Strategies for making the patient and the parents aware of the causal connection and the possibilities for intervention are mentioned.
Adolescent↗