Abstract:
:Advances in molecular diagnostics have led to the feasibility of DNA-based prenatal testing in families at risk for recurrence of severe forms of both dystrophic and junctional epidermolysis bullosa. In this report, we describe prenatal testing in a woman who previously had a child affected with Herlitz junctional epidermolysis bullosa. However, in her second pregnancy, she was found to have dichorionic diamniotic twins. DNA analysis of a pathogenic mutation and informative intragenic polymorphisms (LAMB3 gene) predicted one fetus to be affected and the other unaffected. Selective termination of the affected fetus was performed, and pregnancy with the unaffected fetus was continued, leading to full term delivery of a healthy girl with no skin blisters. This is the first reported case of DNA analysis in a twin pregnancy at risk of Herlitz junctional epidermolysis bullosa, with successful diagnosis and selective termination of one affected twin.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Fassihi H,Ashton GH,Denyer J,Mellerio JE,Mason G,McGrath JAdoi
10.1111/j.1365-2230.2004.01704.xkeywords:
subject
Has Abstractpub_date
2005-03-01 00:00:00pages
180-2issue
2eissn
0307-6938issn
1365-2230pii
CED1704journal_volume
30pub_type
杂志文章abstract::Complete deficiency of the fourth component of complement (C4) is an extremely rare condition. However, it has been reported that partial C4 deficiency can occur in normal subjects, and is associated with several immune diseases. We report a 44-year-old woman who developed slight oedema and punctate purpura on her low...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2012.04423.x
更新日期:2013-07-01 00:00:00
abstract::Amyopathic dermatomyositis (ADM) is characterized clinically by typical skin lesions with hypomyopathy or no muscular involvement. ADM has been recently reported to be complicated by rapidly progressive interstitial lung disease (ILD), especially in patients with positive antibodies against melanoma differentiation-as...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12674
更新日期:2015-12-01 00:00:00
abstract::We present a patient with multiple leiomyomas confined to the left cheek, giving rise to an unusual clinical presentation of this condition. The lesions were cosmetically disfiguring and, because of their exposed location, were particularly painful in the winter months. The treatment of this condition is discussed. ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1990.tb02094.x
更新日期:1990-07-01 00:00:00
abstract::We present two patients who developed pseudoporphyria whilst taking isotretinoin (Roaccutane). At that time, both patients were receiving other agents which could be incriminated as causing their pseudoporphyria. However, it is significant that these other agents had been longstanding and that the porphyria-like cutan...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1993.tb00974.x
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1994.tb01169.x
更新日期:1994-05-01 00:00:00
abstract::Cutaneous amyloidosis and multiple endocrine neoplasia 2A (MEN 2A) have been previously reported in several families. A genetic linkage of both disorders has recently been described. Notalgia paraesthetica has been suggested to be involved in the aetiology of amyloidosis in such patients. We report such an association...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1996.tb00106.x
更新日期:1996-07-01 00:00:00
abstract::This paper reports a unique case of coexistence of vitiligo vulgaris, lichen planus and psoriasis vulgaris in a 53-year-old man. Five years after the onset of vitiligo, lichen planus developed on his lower lip. Another 4 years after the onset of lichen planus, he also exhibited psoriasis on his upper arms and trunk. B...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2006.02066.x
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2003.01313.x
更新日期:2003-07-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
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更新日期:2012-06-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2011.04274.x
更新日期:2012-06-01 00:00:00
abstract:BACKGROUND:Therapeutics targeting tumour necrosis factor (TNF)-α are effective for psoriasis; however, in patients treated for other disorders, psoriasis may worsen and psoriasiform dermatitis (PsoD) may arise. T helper (Th) cytokines in psoriasis upregulate keratin (K)17, which modulates TNF-α transduction, leading to...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13227
更新日期:2018-01-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2230.2001.00893.x
更新日期:2001-10-01 00:00:00
abstract::Human papillomavirus (HPV) is the most common sexually transmitted disorder in young, sexually active populations in the USA and Europe. Giant condyloma acuminatum (GCA) is a unique variant of condyloma acuminata, characterized by local aggressive behaviour despite benign histology. It carries a substantial risk of sq...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2008.02938.x
更新日期:2009-04-01 00:00:00
abstract::A finger-tip unit (FTU) is the amount of ointment expressed from a tube with a 5 mm diameter nozzle, applied from the distal skin-crease to the tip of the index finger. Thirty adult-patients treated various anatomical regions using FTU's of ointment. The number of FTU's required was: face and neck 2.5 (s.d. +/- 0.8); ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb01232.x
更新日期:1991-11-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,meta分析
doi:10.1111/ced.13033
更新日期:2017-03-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.1996.d01-177.x
更新日期:1996-01-01 00:00:00
abstract::This review provides a summary of key findings from 24 systematic reviews of atopic eczema (AE) published or indexed between 1 August 2010 and 31 December 2011, updating published summaries from previous years. Epidemiological evidence points to the protective effects of early daycare, endotoxin exposure, consumption ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/ced.12143
更新日期:2013-07-01 00:00:00
abstract::Photodynamic therapy (PDT) with topical 5-aminolaevulinic acid (5-ALA) is a promising new treatment for superficial malignant nonmelanoma tumours, including cutaneous malignant lymphoma. Here, we report a case of cutaneous anaplastic large cell lymphoma effectively treated by PDT with topical 5-ALA in combination with...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2004.01448.x
更新日期:2004-01-01 00:00:00
abstract::A lighter or whiter complexion is socially desirable in many cultures. This has led to an unregulated and highly profitable market in skin-lightening creams that are readily available over the counter or on the internet. Plant extracts and newer tyrosinase inhibitors such as kojic acid or its derivative kojic dipalmit...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03690.x
更新日期:2010-06-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.0307-6938.2001.00947.x
更新日期:2002-01-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2011.04080.x
更新日期:2011-10-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13933
更新日期:2019-06-01 00:00:00
abstract::We report the case of a 26-year-old man with haemophilia B and human immunodeficiency virus infection (HIV) who presented with a short history of multiple dermatofibromas. He also had troublesome psoriasis for which he was receiving acitretin with UVB therapy and had recently discontinued low-dose daily prednisolone f...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1995.tb01381.x
更新日期:1995-11-01 00:00:00
abstract::A whole array of cutaneous syndromes is associated with distinct dominant mutations in GJB2 encoding the gap junction protein connexin 26 (C x 26), including Vohwinkel's syndrome and keratitis-ichthyosis-deafness syndrome. In contrast, recessive GJB2 mutations occur in a large proportion of individuals with hearing lo...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.01878.x
更新日期:2005-11-01 00:00:00
abstract::Robert Willan is commemorated by a blue plaque on the house in which he lived in Bloomsbury Square in London. He lived there during a productive period of his career, until ill-health caused him to travel to Madeira, where he died. This fitting tribute to Willan is the result of the efforts of Dr. Henry MacCormac, him...
journal_title:Clinical and experimental dermatology
pub_type: 传,历史文章,杂志文章
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更新日期:2011-08-01 00:00:00
abstract:BACKGROUND:Vulval allergic contact dermatitis (ACD) may be a primary disorder or may be associated with an underlying vulval dermatosis. Few studies have looked at the incidence of ACD and the allergens responsible for it. AIMS:We report the incidence of vulval ACD and the responsible allergens in 282 patients investi...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12330
更新日期:2014-06-01 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 wish to report the progress of a patient with pyoderma faciale and Crohn's disease. The patient is interesting in that on two occasions the relapse in her skin condition coincided with the introduction of non-steroidal anti-inflammatory drugs. Therapy with isotretinoin was effective and well tolerated. ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1992.tb00262.x
更新日期:1992-11-01 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::Cutaneous leishmaniasis (CL) in western countries seems to be appearing more frequently. Our aim was to determine if there has been a shift in countries where CL is acquired and whether the incidence has changed, and to assess current diagnostic procedures and treatment modalities. In a retrospective study medical rec...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2004.01677.x
更新日期:2005-01-01 00:00:00