Abstract:
:Ichthyosis hystrix, Curth-Macklin type (IHCM) is an extremely rare autosomal dominant dermatosis caused by mutations in the keratin genes, KRT1 or KRT10, which often manifests as extensive, dark, spiky or verrucous plaques and severe palmoplantar keratoderma. We report a novel frameshift truncation mutation, c.1596_1597insAT (p.Gly533Metfs*82) in exon 7 (V2 tail domain) of KRT1, which, by replacing the glycine-serine-rich tail of KRT1 with a series of 75 alanine-rich amino acids, produces a mild IHCM phenotype. The patient with the mutation presented with localized ichthyosis and progressive hyperkeratosis of the palms and soles with no history of blistering.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Yang Z,Xu Z,Zhang N,Ma Ldoi
10.1111/ced.14193subject
Has Abstractpub_date
2020-08-01 00:00:00pages
719-721issue
6eissn
0307-6938issn
1365-2230journal_volume
45pub_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::It is well known that systemic corticosteroids arrest the progress of vitiligo and lead to repigmentation, but they may produce unacceptable side-effects. The use of high-dose prednisolone therapy to minimize the side-effects of systemic steroids has been reported, but there have been no reports on the effectiveness o...
journal_title:Clinical and experimental dermatology
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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::A 34-year-old woman presented with 2-year history of a dome-shaped papule on a well-circumscribed, thickened, port-wine stain on the left side of the chin. Squeezing on the port-wine-stain plaque revealed many comedos within dilated follicular orifices. The papule was excised and submitted for histological examination...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
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abstract::Chronic spontaneous urticaria (CSU) is a common and disabling skin disease which is often associated with psychiatric comorbidities such as anxiety and depression. These conditions are widely thought to cause, drive and/or maintain CSU, and have been reported as making an important contribution to the low quality of l...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
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更新日期:2013-12-01 00:00:00
abstract::Polymorphic eruption of pregnancy is an uncommon disorder, usually developing in the third trimester and rapidly resolving in the first few weeks postpartum. It has been suggested that multiple pregnancy and excessive weight gain are associated features. We report a patient with the clinical and histological features ...
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更新日期:2002-11-01 00:00:00
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更新日期:2009-12-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13133
更新日期:2017-08-01 00:00:00
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doi:10.1111/ced.12663
更新日期:2015-12-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 临床试验,杂志文章,随机对照试验
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更新日期:2000-05-01 00:00:00
abstract::We present a case of paraneoplastic pemphigus associated with Castleman's disease. Our patient had stomatitis and vulvar erosions followed by a cutaneous polymorphous eruption. Investigations for neoplasia disclosed a Castleman's tumour suggesting the diagnosis of paraneoplastic pemphigus. The diagnosis was supported ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2000.00618.x
更新日期:2000-05-01 00:00:00
abstract::Drug reactions are common in HIV-1 disease, with the incidence having been reported to increase with increasing stage and with CD4+ T-cell counts below 200/microliters. However, there have been numerous reports of patients in which rechallenge, dosing changes or continued therapy have resulted in no recurrence or else...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2007.02379.x
更新日期:2007-05-01 00:00:00
abstract:BACKGROUND:This is the first study investigating scabies treatment since 1992 to involve examination of patients with microscopically confirmed scabies. AIM:To assess the efficacy of 1% lindane cream in treating microscopically confirmed scabies, and to determine the utility of dermoscopy-guided skin scraping with mic...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12643
更新日期:2015-08-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03736.x
更新日期:2010-07-01 00:00:00
abstract::Angiolymphoid hyperplasia with eosinophilia (AHE) is a benign reactive vascular lesion characterized by a proliferation of small to medium sized vascular structures lined by epithelioid endothelial cells. We report a 75-year-old woman with a 1-month history of a painful ulcer on the tongue. Histopathological findings ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03453.x
更新日期:2009-12-01 00:00:00
abstract::Alopecia areata (AA) is a recurrent, immune-mediated, hair-loss disorder. It is associated with other autoimmune disorders that carry a high risk of cardiovascular disease (CVD). However, there is a lack of reports on the association of cardiovascular comorbidities and AA. Cardiac troponin I is a biomarker of myocardi...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14425
更新日期:2021-01-01 00:00:00
abstract::IgA pemphigus is rare but may be underdiagnosed. We describe two cases, a 50-year-old female with a pustular eruption resembling subcorneal pustular dermatosis and a 55-year-old male with a pruritic vesiculopustular eruption simulating dermatitis herpetiformis. They illustrate the clinical heterogeneity of IgA pemphig...
journal_title:Clinical and experimental dermatology
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abstract:BACKGROUND:The protein kynureninase (KYNU) has recently been reported to participate in the pathological processes of various diseases. AIM:To explore the expression and the biological function of KYNU in cutaneous squamous cell carcinoma (cSCC). METHODS:Expression of KYNU in cSCC cell lines and tissues was firstly e...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14072
更新日期:2020-03-01 00:00:00
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journal_title:Clinical and experimental dermatology
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pub_type: 杂志文章
doi:10.1111/j.1365-2230.1990.tb02093.x
更新日期:1990-07-01 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:2020-10-01 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:2008-07-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2000.00569.x
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abstract:BACKGROUND:Epidemiological and clinical data suggest that actinic damage to the skin is an important predictor of skin carcinogenesis. AIM:To investigate the association of squamous cell carcinoma (SCC) and basal cell carcinoma (BCC) with sun-damage alterations seen by histopathology. METHOD:In the current prospectiv...
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pub_type: 杂志文章
doi:10.1111/ced.12713
更新日期:2016-01-01 00:00:00
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pub_type: 杂志文章,随机对照试验
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更新日期:2017-10-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2000-06-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2008.02938.x
更新日期:2009-04-01 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::We present a case of erysipelas which complicated chronic discoid lupus erythematosus (CDLE) of the face. The diagnosis and implications for management are discussed. The changing epidemiology and clinical spectrum of erysipelas are reviewed. ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.1989.tb00891.x
更新日期:1989-01-01 00:00:00