Abstract:
:Papillon-Lefèvre syndrome is an autosomal recessive disorder characterized by palmoplantar hyperkeratosis and aggressive periodontitis. The aim of the study was to identify underlying cathepsin C mutations in 39 subjects with Papillon-Lefèvre syndrome and to explore any phenotypic associations. Genotyping and mutation analyses were performed using standard molecular techniques, and dermatological and oral characteristics were assessed with a semiquantitative clinical score. Three genotypes were present at microsatellite marker D11S1780 and two underlying mutations were identified. The most common genotype (183/183) was associated with an 815G --> C mutation in exon 6 resulting in an arginine to proline change at amino acid 272 (R272P). Patients with the 173/173 genotype revealed an exon 7 G300D mutation resulting in a glycine to aspartic acid change at amino acid 300. The mutation in a family with 189/189 genotype remained unknown. A significant difference in hyperkeratosis of the feet was found between the patients with mutations G300D and R272P ( p < 0.05), but not regarding hands or periodontal condition. Young girls displayed significantly less palmoplantar hyperkeratosis ( p < 0.05) than young boys. In conclusion, considerable phenotypic heterogeneity was observed within the two cardinal mutations and in the 189/189 genotype.
journal_name
Acta Derm Venereoljournal_title
Acta dermato-venereologicaauthors
Ullbro C,El-Samadi S,Boumah C,Al-Yousef N,Wakil S,Twetman S,Alfadley A,Thestrup-Pedersen K,Meyer Bdoi
10.1080/00015550510011619subject
Has Abstractpub_date
2006-01-01 00:00:00pages
3-7issue
1eissn
0001-5555issn
1651-2057journal_volume
86pub_type
杂志文章abstract::Although palmoplantar psoriasis can be severely disabling, there are very few large clinico-epidemiological studies on this condition. Our purpose was to study the morphology and pattern of lesions in Indian patients with palmoplantar psoriasis and to elucidate the role of occupation in the incidence/localization of t...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.1080/00015550260132488
更新日期:2002-01-01 00:00:00
abstract::Patients with clinical features of dorsal macular amyloidosis but without subepidermal amyloid deposits were followed for 2-11 years. The clinical appearance was fairly stable during this period of time, with little tendency of healing. Only 2 of the patients developed typical macular amyloidosis during the follow-up....
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/0001555576302304
更新日期:1996-07-01 00:00:00
abstract::The association between itch and suicidal ideation has not been explored previously in the general population. The aim of the present study is to analyse the association between itch and suicidal ideation in adolescents, and to compare the findings with an expected association between pain and suicidal ideation in the...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/00015555-1251
更新日期:2012-09-01 00:00:00
abstract::We present a 32-year-old white patient with congenital reticular ichthyosiform erythroderma, also known as ichthyosis variegata. The patient had typical clinical features with areas of normal appearing skin surrounded by erythematous hyperkeratotic patches. The smaller "confetti-like" patches were mostly present on th...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章,评审
doi:10.1080/00015550310002684
更新日期:2003-01-01 00:00:00
abstract::The immunological activity in the cerebrospinal fluid (CSF) was studied in 47 patients with early syphilis. The immunoglobulin production within the central nervous system (CNS) was estimated by analysing immunoglobulin G and albumin in CSF and serum and constructing an IgG index according to Tibbling et al. and calcu...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1983-01-01 00:00:00
abstract::Combination treatment of primary anogenital warts with subcutaneous interferon alpha 2a plus cryotherapy was no more efficacious than cryotherapy alone. Patients with primary AG warts showed no in vitro or in vivo suppression of non-specific immunity. In patients treated with interferon plus cryotherapy non-specific c...
journal_title:Acta dermato-venereologica
pub_type: 临床试验,杂志文章
doi:102340/00015555723940
更新日期:1992-01-01 00:00:00
abstract::Twelve patients with cutaneous and/or eye symptoms caused by practolol have been studied. The morphological appearance of the skin eruptions was psoriasiform in 5, vesiculo-papular in one, and exfoliating dermatitis was seen in 2 patients. Keratoconjunctivitis sicca was the only adverse reaction to practolol in one an...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1976-01-01 00:00:00
abstract::Halo naevi are considered benign. They occur in children and adolescents. Eruptive multiple halo naevi are infrequently seen in adults. The first patient in this case series had previously had melanoma. Positron emission tomography-computed tomography (PET-CT) showed a papillary thyroid carcinoma. Subsequent adult pat...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/00015555-3568
更新日期:2020-08-17 00:00:00
abstract::Twenty-one patients with Behçet's disease were typed for HLA antigens. The controls were 50 subjects randomly chosen from a local population and 24 apparently healthy subjects of the same ethnic groupings as those of the patients. The study revealed significant differences in the frequencies of various antigens in the...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1977-01-01 00:00:00
abstract::292 individuals were patch tested with twelve allergens, using a new patch test technique, TRUE Test (TT). As controls, the same allergens in standard concentrations in petrolatum were applied using the Finn Chamber technique (FC). The allergen doses used in TT were chosen according to results from a previous serial d...
journal_title:Acta dermato-venereologica
pub_type: 临床试验,杂志文章,随机对照试验
doi:
更新日期:1988-01-01 00:00:00
abstract::With fluorescence-histochemical methods (FIF method) pigment-producing cells were investigated in benign and malignant skin lesions. Here, pigment cells appear predominantly dendritic, whilst they are separated from each other by keratinocytes, cells of hair follicles, or cells of sebaceous glands. In lentigo maligna ...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::We evaluated the reproducibility of atopy patch test reactions and the quality and quantity of itch in 16 patients with atopic eczema and a history of a positive atopy patch test reaction, comparing three different application sites. The allergen was re-applied simultaneously on both forearms and the back. Intensity a...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.1080/00015550410024418
更新日期:2005-01-01 00:00:00
abstract::Tissue from buccal and labial mucosal lesions of discoid lupus erythematosus (DLE) was studied in the electron microscope. The material comprised 10 patients, 7 of whom presented skin lesions as well. The epithelium showed a change in differentiation pattern from nonkeratinizing to keratinizing epithelium. Civatte bod...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::Atopic dermatitis is a common skin disorder of unknown aetiology with peak incidence in early childhood. The disease is associated with peripheral T-cell accumulation in the skin. The thymus is a key organ of the cellular immune response early in life. We hypothesized that atopic dermatitis is associated with an unbal...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.1080/00015550510026352
更新日期:2005-01-01 00:00:00
abstract::Patients with rheumatoid arthritis were investigated for contact allergy to gold in connection with treatment with gold preparations. There were 57 patients with rheumatoid arthritis previously treated with gold, with or without cutaneous side-effects, as well as 20 patients intended for such treatment; all were expos...
journal_title:Acta dermato-venereologica
pub_type: 临床试验,杂志文章
doi:10.2340/0001555577370373
更新日期:1997-09-01 00:00:00
abstract::Oxidation of 5-S-cysteinyldopa by mushroom tyrosinase was studied by measuring 5-S-cysteinyldopa consumption with HPLC. 5-S-cysteinyldopa was found to be a substrate for tyrosinase, but our results suggests that a self-catalysed oxidation induced by enzymatically formed 5-S-cysteinyl dopaquinone also takes place. Dopa...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::We report 3 cases of pruriginous papular eruption of HIV disease, in which demodectic mites were found in the pilosebaceous follicles which were surrounded by a granulomatous inflammatory infiltrate. Papular eruption of HIV disease is a distinctive clinicopathological entity, whose pathogenicity is not known. Our obse...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/0001555574320322
更新日期:1994-07-01 00:00:00
abstract::The nickel content of food items consumed in Denmark was estimated on the basis of analysis by atomic absorption spectrophotometry. The highest concentrations (1-10 mg nickel/kg fresh weight) were found in cocoa, licorice, lucerne seeds, dried beans, peanuts, hazel nuts, sunflower seeds, oat meal and wheat bran. A die...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1986-01-01 00:00:00
abstract::In two Arab brothers presenting the characteristic clinical picture of epidermodysplasia verruciformis (EV), histological examination revealed large clear cells in the granular layer and uppermost part of the prickle cell layer of the epidermis. The report of this histological picture in two cases by other authors in ...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1979-01-01 00:00:00
abstract::The effect of UV-light on Pityrosporum yeasts (P.) was studied: P. yeasts cultured from the skin were spread on Dixon plates and irradiated with different UVB-and UVA-light dosages and read after three days, controls were not irradiated. Also P. yeasts, immediately after irradiation, were isolated from the plates and ...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:102340/00015555706971
更新日期:1990-01-01 00:00:00
abstract::Facial melanoma is difficult to diagnose and dermatoscopic features are often subtle. Dermatoscopic non-melanoma patterns may have a comparable diagnostic value. In this pilot study, facial lesions were collected retrospectively, resulting in a case set of 339 melanomas and 308 non-melanomas. Lesions were evaluated fo...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/00015555-2759
更新日期:2017-11-15 00:00:00
abstract::The aim of the study was to investigate the effect of non-allergenic structural analogues on the sensitizing potential of carvone, a fragrance allergen. The possibility that one molecule might inhibit the allergenic activity of another molecule has been debated for 25 years. The Research Institute for Fragrance Materi...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.1080/000155501317208318
更新日期:2001-11-01 00:00:00
abstract::Atopic dermatitis (AD) is a common disease in childhood and an important risk factor for the later development of other atopic diseases. Many publications on childhood AD use questionnaires based on information obtained in adulthood, which introduce the possibility of recall bias. In a prospective cohort study, recall...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/00015555-2128
更新日期:2015-11-01 00:00:00
abstract::The incidence of malignant melanoma of the skin has increased rapidly among white people during the last decade. Although the pathogenesis of malignant melanoma is not clear, epidemiologic data and experimental work indicates that ultraviolet (UV) radiation plays a critical role in tumorigenesis. Recent data implicate...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::Some confusion exists in the literature about which criteria should be used to define familial melanoma. This could explain the different reported frequencies of mutations in predisposing genes, mostly CDKN2A, in these patients. This study evaluated the human leucocyte antigen (HLA) class II genotype and the presence ...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.1080/000155500300012936
更新日期:2000-11-01 00:00:00
abstract::Basement membrane (BM) disruption and dermal changes (elastosis, collagenolysis, vascular ectasia) have been reported in melasma. Although ultraviolet (UV) irradiation can induce these changes, UV is not always necessary for melasma development. Cadherin 11 (CDH11), which is upregulated in some melasma patients, has p...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:10.2340/00015555-2315
更新日期:2016-06-15 00:00:00
abstract::Retinoid transfer into breast milk was studied in a psoriatric woman receiving oral acitretin at a dosage of 40 mg once daily. Concentrations of the parent compound and its main metabolite, 13-cis acitretin, were measured in serum and mature milk during the initial nine days of therapy, using reverse-phase high perfor...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:102340/0001555570487490
更新日期:1990-01-01 00:00:00
abstract::Biopsies obtained from both the perilesional areas and clinically uninvolved skin of patients with pemphigus vulgaris (PV) were studied for antigen-presenting cell and lymphocyte phenotype and/or activation phenotype using monoclonal antibodies in avidin-biotin-peroxidase complex staining. Perilesional PV skin contain...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1989-01-01 00:00:00
abstract::Zinc deficiency was produced in rats by feeding them a diet containing 0.5 mg zinc per kg. After 2 weeks the zinc-deficient rats showed markedly stunted growth as compared with control rats receiving an identical diet supplemented with 50 mg zinc per kg. After about 3 weeks all rats in the zinc-deficient group develop...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1980-01-01 00:00:00
abstract::In 94% of the patients with dermatitis herpetiformis, a locally applied ointment with an ester of nicotinic acid (Trafuril) induced an abnormal reaction with erythema, edema, papules, and often vesicles. The appearance of the reaction to Trafuril is similar to DH lesions. It differs markedly from the reactions to iodi...
journal_title:Acta dermato-venereologica
pub_type: 杂志文章
doi:
更新日期:1975-01-01 00:00:00