Abstract：
:Autosomal dominant and recessive forms of dystrophic epidermolysis bullosa (DEB) result from mutations in the type VII collagen gene (COL7A1). Although paradigms have emerged for genotype/phenotype correlation in DEB, some pathogenic mutations in COL7A1, notably glycine substitutions within the type VII collagen triple helix, may lead to diagnostic difficulties, since certain glycine substitutions can result in either dominant or recessive mutant alleles. Delineation of glycine substitution mutations into two discrete groups, however, is made difficult by observations that, for some particular glycine substitutions in type VII collagen, the same mutation can result in both dominant and recessive disease. In this report we describe four further glycine missense mutations: p.Gly1483Asp, p.Gly1770Ser, p.Gly2213Arg and p.Gly2369Ser, which can lead to either dominant or recessive DEB, and which result in a spectrum of clinical abnormalities. We also identify a further 30 new glycine substitution mutations that cause either dominant or recessive DEB, but not both. In screening the COL7A1 gene for mutations in individuals with DEB our data highlight that delineation of glycine substitutions in type VII collagen has important implications for genetic counselling.
journal_name
Acta Derm Venereoljournal_title
Acta dermato-venereologicaauthors
Almaani N,Liu L,Dopping-Hepenstal PJ,Lai-Cheong JE,Wong A,Nanda A,Moss C,Martinéz AE,Mellerio JE,McGrath JAdoi
10.2340/00015555-1053subject
Has Abstractpub_date
2011-05-01 00:00:00pages
262-6issue
3eissn
0001-5555issn
1651-2057journal_volume
91pub_type
杂志文章abstract：:We took biopsies from similar sites on the scalps of normal controls, normal looking and hair loss areas of patients with alopecia areata. The specimens were sectioned serially and horizontally. We measured morphological parameters, such as the diameter of the hair shaft, the thickness of the inner root sheath, the di...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/000155599750011002
更新日期：1999-05-01 00:00:00
abstract：:To assess the role of epidermal melanin in a patient with porphyria variegata and vitiligo, the MED was determined in pigmented and vitiliginous skin for wavelengths of 310, 405 and 500 nm. The energy required to elicit erythema by irradiating vitiliginous skin at 310 nm was half that for pigmented skin. For 405 nm th...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/0001555581612328
更新日期：1981-01-01 00:00:00
abstract：:Atopic dermatitis is a multifactorial disorder probably caused by environmental factors in combination with susceptibility genes. The clinical similarity between atopic dermatitis and the eczema manifestation in patients with Wiskott-Aldrich syndrome made the previously identified WAS gene in chromosome sub-band Xpl 1...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/000155501317140043
更新日期：2001-10-01 00:00:00
abstract：:Prevalence and severity of seborrhoeic dermatitis were studied in 150 patients with psychiatric disorders, including schizophrenia, mood disorders, anxiety and organic mental illness. As a control group, we examined 150 patients waiting for surgery and regarded as obviously anxious. Thirty-eight psychiatric patients w...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555570432434
更新日期：1990-01-01 00:00:00
abstract：:Using the mouse, photoallergy to the antiarrhythmic agent quinidine could be induced following systemic administration. After pretreatment with cyclophosphamide 150 mg/kg, groups of 5-10 mice were injected i.p. with quinidine chloride 100 mg/kg on 2 consecutive days, followed by exposure of shaved abdominal skin to UV...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:Systemic contact dermatitis may occur in contact-sensitized individuals when they are exposed to haptens orally, transcutaneously, intravenously or by inhalation. We report the case of a woman developing a diffuse skin eruption after the topical use of Rhus toxicodendron alcoholic extract and the oral introduction of ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/00015550410023293
更新日期：2004-01-01 00:00:00
abstract：:In an attempt to clarify the pathophysiology of haemodynamics in legs with venous ulcer we investigated the effect of a single intermittent pneumatic compression treatment on the peripheral resistance of leg arteries and the cutaneous laser Doppler flux in the leg. Eight patients with venous leg ulcers and 10 subjects...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/000155599750011435
更新日期：1999-03-01 00:00:00
abstract：:Extracts of psoriatic scales from patients with chronic plaque psoriasis and of normal human post-mortem skin were tested for their effects on the migration of healthy human mononuclear cells in a modified Boyden chamber. A preparation of cells containing 12-32% monocytes was obtained from whole blood by a density gra...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1984-01-01 00:00:00
abstract：:Etretinate 0.5 mg/kg body weight combined with 0.1% triamcinolone acetonide and 5% salicylic acid in an O/W cream gave more than 70% improvement in 62% of 75 patients. Of this satisfactorily improved group, at least 41% were still in the same condition after 3 years on a maintenance dose of, on average, 0.3 mg/kg body...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1982-01-01 00:00:00
abstract：:Data on skin reactivity in patients with respiratory atopy without atopic dermatitis are scarce and controversial. Our purpose was to assess whether skin reactivity in patients with seasonal allergic rhinitis varies according to the phase of the disease and the possible release of inflammatory mediators acting on the ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/000155500750042952
更新日期：2000-05-01 00:00:00
abstract：:Non-alcoholic fatty liver disease (NAFLD) is currently the most common cause of end-stage liver disease. The aim of this controlled cross-sectional study was to assess the association between NAFLD and hidradenitis suppurativa. NAFLD was assessed using hepatic ultrasound. A total of 125 patients with hidradenitis supp...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/00015555-3597
更新日期：2020-08-18 00:00:00
abstract：:To investigate the function of trichohyalin during terminal differentiation of the skin, immunohistochemical studies were performed on trichohyalin and its related proteins, filaggrin and involucrin, the components of the cornified cell envelope. In skin disorders unrelated to tumours, weak trichohyalin expression was...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/000155599750011336
更新日期：1999-03-01 00:00:00
abstract：:Peripheral blood T-cell subpopulations were evaluated in 32 patients affected by viral warts and in 32 unaffected individuals belonging to a control group. A significant decrease was found in total lymphocytes as well as OKT3 and OKT4 subsets among affected patients. A significant negative correlation was also found b...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1986-01-01 00:00:00
abstract：:We report the clinical variations and the duration of prodromal symptoms in 20 patients with bullous pemphigoid. Nearly two-thirds of the patients had prodromal symptoms. THe duration of the prodromal eruptions was up to 6 weeks if papular and/or urticarial and up to 2 years if eczematous, before the blisters appeared...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1981-01-01 00:00:00
abstract：:In order to find image descriptors enabling the characterization of sclerotic skin of morphea plaques and their objective differentiation from normal skin, we studied 52 lesions in 35 patients affected by plaque type morphea. Echographic evaluations were carried out using a 20 MHz B-scanner, providing cross-sectional ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/0001555575442445
更新日期：1995-11-01 00:00:00
abstract：:Many patients with moderate-to-severe plaque psoriasis do not respond adequately to methotrexate monotherapy. This pilot study, with a small patient population, was performed to evaluate the effectiveness and safety of etanercept and methotrexate combination in patients with plaque psoriasis and inadequate response to...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章,多中心研究,随机对照试验
doi：10.2340/00015555-0511
更新日期：2008-01-01 00:00:00
abstract：:We have analyzed 8 patients (6 men and 2 women, aged 52 to 70 years) with psoriasis associated with hepatitis C virus (HCV) infection among 79 psoriatic patients. Psoriasis preceded in 6 cases. One patient had generalized pustular psoriasis (GPP), and the others had psoriasis vulgaris (PV). The psoriasis area and seve...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/0001555575482483
更新日期：1995-11-01 00:00:00
abstract：:The close chromosomal proximity of major histocompatibility complex and tumour necrosis factor genes may suggest the involvement of the latter in the pathogenesis of immunological diseases associated with HLA antigenes. The major histocompatibility complex antigens may play a certain role in the pathogenesis of lichen...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.1080/00015550510037053
更新日期：2005-01-01 00:00:00
abstract：:A leukoplakic lesion of the prepuce is described with the histologic and ultrastructural features of epidermolytic hyperkeratosis. The lesion represents most likely a variant of epidermolytic leukoplakia recently observed in the vermilion border of the lip. ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1983-01-01 00:00:00
abstract：:Becker's naevus is androgen-dependent. The aim of this study was to investigate whether oestrogen and progesterone receptors are involved in this disorder. Immunohistochemistry showed that epidermal expression of androgen receptors, oestrogen receptors (α, β) and progesterone receptors was higher in skin lesions of Be...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/00015555-2986
更新日期：2018-10-10 00:00:00
abstract：:Lymphocytes from 8 patients with contact dermatitis and a positive nickel patch test, 7 patients with contact dermatitis due to other factors and with a negative nickel patch test, and 9 other subjects, 7 of whom suffered from other dermatological disorders, were tested with the lymphocyte transformation test (LTT), u...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：
更新日期：1978-01-01 00:00:00
abstract：:The lysosomal enzyme beta-hexosaminidase and the melanocyte specific enzyme tyrosinase were examined in human melanoma cell cultures. The beta-hexosaminidase activity of the medium was approximately 40% of the total cellular activity after 24 h, while after 48 h the activity in the medium was twice that of the cells. ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555570286290
更新日期：1990-01-01 00:00:00
abstract：:We used T-cell receptor excision circles (TREC) to evaluate thymic function in adult patients with atopic dermatitis and psoriasis. We observed that men, but not women, with atopic dermatitis had a significantly faster decline in TREC content with increasing age compared with healthy men. In contrast, both men and wom...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/00015555-0550
更新日期：2008-01-01 00:00:00
abstract：:Gold sodium thiosulfate, inserted in the patch test standard series, gives a surprisingly high yield of positive reactions, about 10% of tested eczema patients, but with a low degree of clinical relevance. A histopathological study on patch test reactions was carried out in patients selected because of a combined cont...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/0001555574417423
更新日期：1994-11-01 00:00:00
abstract：:Cinnamic alcohol and cinnamic aldehyde are a cause of allergic contact dermatitis in man and give rise to similar rates of positive reactions in routine patch testing. However, data from animal models indicates that the aldehyde is the stronger sensitizer of the two. Circumstantial evidence has pointed to the conversi...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555572264265
更新日期：1992-08-01 00:00:00
abstract：:The development of red nail lunulae has been extremely rarely described in alopecia areata. We observed 2 patients, a 30-year-old woman and a 61-year-old man, both suffering from severe alopecia areata, and having red lunulae. The colour changes, which developed a few weeks after the acute onset of hair loss, disappea...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555572203205
更新日期：1992-01-01 00:00:00
abstract：:Itching is the most frequent symptom in dermatology. Little is known about its occurrence and its characteristics in the general population. Instruments specifically designed to measure itch are scarce. The aim of this pilot study was to develop and validate an instrument measuring prevalence and characteristics of ch...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/00015555-0641
更新日期：2009-01-01 00:00:00
abstract：:Many patients with psoriasis demonstrate psychological disturbances, including decreased health-related quality of life (HRQoL). The aim of this study was to evaluate selected personal resources and HRQoL in 168 in-patients with psoriasis vulgaris. The following questionnaires were used: Skindex-29, General Health Que...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：10.2340/00015555-1530
更新日期：2013-09-04 00:00:00
abstract：:Remission of psoriatic lesions was induced when the lesions were firmly pressed with a plastic cap held in place by an elastic bandage for 24 h or stretched with a negative pressure of 200 mmHg for 2 h. Seven out of 10 patients showed a clinical improvement of the treated psoriatic lesions. These lesions cleared withi...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555570176179
更新日期：1990-01-01 00:00:00
abstract：:The distribution of Fc-receptors for IgG (FcR) on human epidermal cells (EC) was characterized in situ using monoclonal antibodies (MoAbs) by indirect immunofluorescence staining of cryosections. The results showed heterogeneity of FcR expression on Langerhans' cells (LC) and keratinocytes (KC). The MoAb IV.3 against ...
journal_title：Acta dermato-venereologica
pub_type： 杂志文章
doi：102340/0001555570385390
更新日期：1990-01-01 00:00:00
