Abstract：
:Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. The characteristic genetic lesion in dominant DEB (DDEB) is a glycine substitution in the collagenous domain of the protein. In this study, we identified a Chinese family with a four-generation pedigree of DDEB, in whom a novel glycine substitution mutation in COL7A1 was demonstrated. A heterozygous nucleotide G-->A transition at position 6208 in exon 74 of COL7A1 was detected, which resulted in a glycine to arginine substitution (G2070R) in the triple-helical domain of type VII collagen. This substitution was not found in 110 unrelated normal alleles. This report emphasizes the predominance of glycine substitution mutations in DDEB and contributes to the expanding database on COL7A1 mutations.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Zhang XJ,Song YX,Zhang XQ,Yang S,Li M,Li CR,Yang CJ,Yang Jdoi
10.1046/j.1365-2230.2003.01317.xkeywords:
subject
Has Abstractpub_date
2003-07-01 00:00:00pages
437-9issue
4eissn
0307-6938issn
1365-2230pii
1317journal_volume
28pub_type
杂志文章abstract：:Allergic contact dermatitis (ACD) is now recognized as a common relevant diagnosis in children. We reviewed the results of patch tests in children under 16 years of age over the 3-year period January 2009 to December 2011, comparing the results with those in a similar 3-year retrospective study performed in our unit f...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12460
更新日期：2015-01-01 00:00:00
abstract：:Although many antihistamines are now in clinical use, few studies directly compare their pharmacodynamic and sedative activities in humans in vivo. We designed a double-blind, placebo-controlled, crossover study to compare the inhibitory effects of bepotastine, cetirizine, fexofenadine, and olopatadine on histamine-in...
journal_title：Clinical and experimental dermatology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1111/j.1365-2230.2004.01618.x
更新日期：2004-09-01 00:00:00
abstract：:Azathioprine is used in a variety of dermatological conditions. However, because of its side-effect profile, azathioprine is limited for use in patients with severe disease. An unpredictable, rare and potentially fatal side-effect of azathioprine is the development of a hypersensitivity reaction, often consisting of f...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章,评审
doi：10.1111/j.1365-2230.1995.tb01343.x
更新日期：1995-07-01 00:00:00
abstract：:We describe the results of a single-centre, double-blind, vehicle-controlled, parallel group study on the quantitative effects of 2% fusidic acid lotion (Fucidin lotion) in facial acne vulgaris. The trial was completed by 52 patients aged 15-25 years with mild to moderate acne who had been randomized to either Fucidin...
journal_title：Clinical and experimental dermatology
pub_type： 临床试验,杂志文章,随机对照试验
doi：
更新日期：1997-09-01 00:00:00
abstract：:Naevoid hypertrichosis is an unusual congenital disorder consisting of a solitary circumscribed area of terminal hair growth which is not associated with any other systemic abnormalities. We describe a patient with multiple areas of circumscribed naevoid hypertrichosis on the trunk and limbs who also had lipodystrophy...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1989.tb00887.x
更新日期：1989-01-01 00:00:00
abstract：BACKGROUND:Psoriasis involves a multifaceted interplay of keratinocytes, blood vessels, immune system mediators and expressed genes. AIM:To determine whether genetic polymorphisms in the angiopoietin-1 (ANGPT1), angiopoietin-2 (ANGPT2) and caspase-5 (CASP5) genes are associated with an increased risk of developing pso...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12550
更新日期：2015-07-01 00:00:00
abstract：BACKGROUND:Skin-cancer screening should rely on simple, low-cost and high-sensitivity diagnostic procedures. AIMS:To compare diagnosis and management options after the evaluation of clinical and dermatoscopic teleconsultations with a store-and-forward teledermatology screening system for pigmented lesions. METHODS:Ka...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2005.02000.x
更新日期：2006-01-01 00:00:00
abstract：:The incidence of nonmelanoma skin cancer is significantly increased in recipients of solid-organ transplants. Photodynamic therapy (PDT) is a well-documented treatment option for superficial and selected nodular basal cell carcinomas (BCCs) in immunocompetent patients, but there are few reports describing PDT of BCCs ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2011.04248.x
更新日期：2012-06-01 00:00:00
abstract：BACKGROUND:Psoriasis is a common chronic inflammatory skin disease caused by genetic and epigenetic factors. There are conflicting results in the literature about the association between psoriasis and the methylenetetrahydrofolate reductase gene (MTHFR), ranging from strong linkage to no association. AIM:To investigat...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12909
更新日期：2017-01-01 00:00:00
abstract：:It is well known that primary systemic amyloidosis [light chain (AL) amyloidosis] is associated with hidden dyscrasia or multiple myeloma. Acquired cutis laxa (cutis laxa acquisita; CLA) has also been described in patients with plasma cell dyscrasias, including multiple myeloma. We report a case in which haemorrhagic ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.13084
更新日期：2017-06-01 00:00:00
abstract：:Ninety-six patients with a clinical and parasitological diagnosis of cutaneous leishmaniasis were recruited to a comparative randomized clinical trial evaluating the efficacy of topical paromomycin vs. weekly intralesional injections of meglumine antimoniate. The patients were randomly divided into two treatment group...
journal_title：Clinical and experimental dermatology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1046/j.1365-2230.2003.01169.x
更新日期：2003-01-01 00:00:00
abstract：BACKGROUND:Data on the dermoscopic features of fungal melanonychia are limited. AIM:To identify the dermoscopic features of fungal melanonychia. METHODS:We reviewed patient files, clinical history and dermoscopic images of all cases with a diagnosis of fungal melanonychia seen at our dermoscopy unit within the past y...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12552
更新日期：2015-04-01 00:00:00
abstract：:We report a 29-year-old white woman who presented with oral involvement and subsequently developed severe and extensive laryngeal involvement with mucous membrane pemphigoid. She could not tolerate systemic corticosteroids due to side-effects. Dapsone improved only the oral disease, but the laryngeal disease remained ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2008.03033.x
更新日期：2009-12-01 00:00:00
abstract：:Contact allergy to various essential oils used in aromatherapy was demonstrated on patch testing in a 53-year-old patient suffering from relapsing eczema resistant to therapy on various uncovered parts of the skin, in particular the scalp, neck and hands. Sensitization was due to previous exposure to lavender, jasmine...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1995.tb02719.x
更新日期：1995-03-01 00:00:00
abstract：:The disaccharide content of the chondroitinase-digestible glycosaminoglycans (GAGs) extracted from 6-mm skin punch biopsies from the atrophic and sclerotic skin of two patients with Werner's syndrome (WS) were determined using high-performance liquid chromatography after 1-phenyl-3-methyl-5-pyrazolone labelling. The t...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1994.tb01253.x
更新日期：1994-11-01 00:00:00
abstract：BACKGROUND:Vitiligo is a skin disease characterized by loss of normal pigmentation in the skin. Several treatments exist but none is really effective. Recently, perturbations of calcium homeostasis in vitiliginous epidermis have been described. AIM:Based on these findings, the aim of this prospective, randomized, open...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章,随机对照试验
doi：10.1111/j.1365-2230.2005.02037.x
更新日期：2006-03-01 00:00:00
abstract：:Bullous pemphigoid (BP) is an autoimmune disease mediated by autoantibodies against hemidesmosome components. This study used PCR-sequence-specific primers to genotype polymorphisms in HLA-DR and DQ in 25 BP patients and 57 normal controls from northern China. We found lower frequencies of DRB1*08 (DR8) and DRB1*08/DQ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.2002.01037.x
更新日期：2002-06-01 00:00:00
abstract：:A 55-year-old diabetic female treated with a combination of a short- and intermediate-acting insulin, developed sterile furunculoid lesions at the injection sites which eventually healed with atrophic scars. Histopathologically, an initial neutrophilic stage was followed by granulomatous and fibrotic stages. It was co...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1989.tb00938.x
更新日期：1989-05-01 00:00:00
abstract：:It is a common experience that many Spitz naevi deviate from the idealized or stereotypical representation found in the literature, often causing considerable difficulties in distinguishing them from melanoma. The diagnostic term 'atypical Spitz naevus' is used to describe lesions that deviate from the typical appeara...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2007.02639.x
更新日期：2008-05-01 00:00:00
abstract：:Twenty-six men who presented with male pattern baldness (androgen-dependent alopecia), were quantitatively evaluated for scalp hair variables and compared with 13 age-matched controls. Compared to controls, significant mean differences for hair variables were found in the frontal-vertex area, while in the occipital ar...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1991.tb00343.x
更新日期：1991-05-01 00:00:00
abstract：:Photo-damage of the head and neck was assessed, by visual inspection, in 82 Northern European renal transplant recipients attending a dermatology clinic. Photo-damage was graded as absent, mild, moderate and severe and the presence or absence of skin telangiectasia, solar elastosis, erythema and pigmentation was asses...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.2003.01408.x
更新日期：2003-11-01 00:00:00
abstract：BACKGROUND:Both leprosy and human immunodeficiency virus (HIV) are infectious diseases, and are an important global health problem. Patients with leprosy who are co-infected with HIV seem to be at higher risk of developing leprosy reactions. AIM:To examine the histological features of leprosy in patients with HIV and ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/ced.12028
更新日期：2013-07-01 00:00:00
abstract：:Hydroa vacciniforme (HV) is a rare photodermatosis first described by Bazin in the mid-nineteenth century. It typically presents in childhood and resolves during adolescence. Rarely, however, symptoms may persist into adult life.2,3 We now describe a patient with this condition presenting unusually for the first time ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.1998.00322.x
更新日期：1998-03-01 00:00:00
abstract：:A 33-year-old man with recessive dystrophic epidermolysis bullosa presented with a 3-month history of an enlarging mass within scarring on the posterior aspect of the right shoulder. The clinical appearance of the mass with an almost cobbled, verrucous surface, and its rapid evolution suggested the development of a sq...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2008.02888.x
更新日期：2009-01-01 00:00:00
abstract：:A 72-year-old woman with chronic renal failure requiring haemodialysis developed acute iododerma twice, after receiving iodide contrast dye for radiological procedures. Iododerma was localized to the face, scalp and elbows and was associated with papular purpura of the legs. Histopathology of the skin lesions showed a...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1990.tb02079.x
更新日期：1990-05-01 00:00:00
abstract：:The two photodermatoses, polymorphic light eruption (PLE) and chronic actinic dermatitis (CAD), are characterized by lymphocyte-rich inflammatory infiltrates, the pathogeneses of which are not fully understood. We have therefore studied suction blister fluid (SBF) samples from patients with these conditions before and...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.1999.00489.x
更新日期：1999-07-01 00:00:00
abstract：:Fourteen patients with psoriasis received long-term treatment with cyclosporin (CsA). Among patients there was great variability in the minimal effective CsA dose. In most patients long-term treatment was limited due to dose reductions made necessary because of side-effects. The therapeutic window for CsA seems small....
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1991.tb00283.x
更新日期：1991-01-01 00:00:00
abstract：:Incipient osteomalacia developed in a Pakistani patient living in the UK after strict sunlight avoidance forming part of the management of the photosensitivity disorder, chronic actinic dermatitis. The patient's skin type and diet, which included calcium-binding phytates in chappattis, had increased his risk of the co...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1046/j.1365-2230.2000.00669.x
更新日期：2000-07-01 00:00:00
abstract：:Multiple cutaneous and uterine leiomyomata (MCL) is an autosomal dominant disorder characterized by the development of benign smooth muscle tumours (leiomyomas) in the skin and uterus of affected women, and in the skin of affected men. In rare cases, MCL has been associated with a predisposition to the rare type II pa...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.2005.01977.x
更新日期：2006-01-01 00:00:00
abstract：:Immunosuppression is recognized to predispose to the development of disseminated superficial actinic porokeratosis and to cause the spread of pre-existing lesions. Porokeratosis of Mibelli has been less frequently described following immunosuppression and we report a further case. ...
journal_title：Clinical and experimental dermatology
pub_type： 杂志文章
doi：10.1111/j.1365-2230.1991.tb00301.x
更新日期：1991-01-01 00:00:00
