Abstract:
:Aicardi-Goutières syndrome type 6 (AGS6) and dyschromatosis symmetrica hereditaria (DSH) are allelic disorders caused respectively by biallelic and heterozygous pathogenic variants in ADAR1. We report three unrelated children presenting with features of both AGS6 and DSH, two of whom had compound heterozygous pathogenic variants in ADAR1. We also describe the novel genetic variants in our cases and review the literature on association of ADAR1-related AGS6 and DSH with these phenotypes.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Sathishkumar D,Muthusamy K,Gupta A,Malhotra M,Thomas M,Koshy B,Jasper A,Danda S,George Rdoi
10.1111/ced.14531subject
Has Abstractpub_date
2020-12-07 00:00:00eissn
0307-6938issn
1365-2230pub_type
杂志文章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:BACKGROUND:We conducted a re-audit of the surgical practice of UK dermatologists for the treatment of nonmelanoma skin cancer and examined changes with reference to our previous audit in 2014. The audit was supplemented by a detailed assessment of completeness of the histopathology reports for each tumour. METHODS:UK ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14034
更新日期:2020-01-01 00:00:00
abstract::We report a 72-year-old man on haemodialysis who presented with multiple abscesses on his lower legs. Routine bacterial culture of abscess pus was reported as 'sterile' after 48 h, leading to the suspicion of a mycobacterial infection. Skin biopsy taken for mycobacterial microscopy and culture isolated a heavy growth ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
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更新日期:2001-07-01 00:00:00
abstract:BACKGROUND:Several studies have shown that in Africa squamous cell carcinoma (SCC) is commoner than other skin malignancies. The risk factors are grouped generally into solar and nonsolar factors and their contributions vary with race, geographical region and site of lesion. This study attempted to identify risk factor...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03243.x
更新日期:2009-12-01 00:00:00
abstract::The psychosocial effects of facial acne are well accepted but until recently few validated instruments existed which were suitable for use in clinical trials. The aim of this study was to assess measurement characteristics (reproducibility, correlation with acne severity, and sensitivity to detect change after acne th...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2001.00839.x
更新日期:2001-07-01 00:00:00
abstract::Thalidomide has been used as an effective treatment for prurigo nodularis (PN) with a median dose of 200 mg, but the risk of peripheral neuropathy precludes long-term use. We analysed the efficacy of low-dose thalidomide (< 100 mg) in 17 patients with recalcitrant PN. Patients were initiated on thalidomide 50 mg on al...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14015
更新日期:2020-01-01 00:00:00
abstract::Precalcaneal congenital fibrolipomatous hamartoma (PCFH) is a condition that is seldom reported in the paediatric literature and rarely in the dermatological literature. It has other disparate and confusing names and as histology is rarely obtained, the condition may be under-reported. We describe this disorder in the...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2008.02984.x
更新日期:2009-06-01 00:00:00
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journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2000.00569.x
更新日期:2000-01-01 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.1365-2230.2001.00835.x
更新日期:2001-06-01 00:00:00
abstract::Determining the risk of progression to systemic lupus erythematosus (SLE) among patients diagnosed with discoid lupus erythematosus (DLE), and the time frame of this risk, are important clinical questions. Past reports have demonstrated a wide time frame of progression from DLE to SLE, with mean time to progression of...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14014
更新日期:2020-01-01 00:00:00
abstract::Melanoma-associated retinopathy (MAR) is a rare paraneoplastic autoimmune manifestation of cutaneous malignant melanoma. Patients classically present with acute onset night blindness, positive visual phenomena and visual field defects, and typically have significantly reduced quality of life as a result. Early recogni...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/ced.14095
更新日期:2020-03-01 00:00:00
abstract::Histology sections from 61 cases of squamous cell carcinoma (SCC) of the vulva presenting after 1988 were reviewed for evidence of associated epithelial abnormality. Of the 50 patients with epithelium adjacent to the tumour, 24 had histological evidence of lichen sclerosus (LS), 20 of severe vulvar intraepithelial neo...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:
更新日期:1996-09-01 00:00:00
abstract::Lupus miliaris disseminatus faciei (LMDF) is a chronic and uncommon inflammatory dermatosis, characterized by yellowish-red papules, especially on the face and around the eyelids. It is considered to be a reaction to destroyed hair follicles. We dermoscopically evaluated two patients diagnosed with LMDF. Dermoscopy re...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12331
更新日期:2014-06-01 00:00:00
abstract::We report the case of a 24-year-old woman with an 8-month history of deep pelvic pain and postcoital bleeding. Examination revealed desquamation of the vaginal epithelium with tender fissured plaques in the vagina, initially thought to be vaginal intraepithelial neoplasia. Histology showed squamous mucosa with supraba...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13026
更新日期:2017-03-01 00:00:00
abstract::Summary Mid-dermal elastolysis is an unusual process characterized by the absence of the elastic fibres within the mid-dermis. The disappearance of these fibres causes fine wrinkles (type 1) or perifollicular protrusions (type 2) affecting the trunk, neck and arms. There is a female predilection, and most patients hav...
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::Vitiligo is a disease characterized by the loss of melanocytes, resulting in progressive depigmentation of skin, and areas of normally pigmented skin can be of cosmetic concern. Several options have been tried to remove the pigment and make the skin a more even colour. We present an easy and effective therapeutic proc...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03412.x
更新日期:2010-03-01 00:00:00
abstract::Clear cell acanthoma (CCA) is a benign epidermal tumour with distinctive and uniform clinical and histological features. Although solitary lesions are the rule, some cases of multiple CCA, rarely with more than 10 lesions, have been previously reported. Only 22 cases of multiple CCA have been described in the English ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.1994.tb01179.x
更新日期:1994-05-01 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
abstract::We report a man with a 3-year-history of a striking eruption of small, 2-3 mm diameter keratotic, crateriform papules distributed symmetrically over the lower limbs. Morphologically the individual papules closely resembled those described in acrokeratoelastoidosis (AK) of Costa and in focal acral hyperkeratosis of Dow...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2001.00810.x
更新日期:2001-05-01 00:00:00
abstract:BACKGROUND:Identification of onychomycosis is mainly based on clinical diagnosis with auxiliary diagnostic methods such as potassium hydroxide (KOH) microscopy, periodic acid-Schiff staining or fungal culture. However, each method is limited by its sensitivity and specificity. AIM:To develop a new test method using th...
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::A 68-year-old woman developed allergic contact dermatitis to topical metronidazole gel as proven by positive patch tests to the gel and to metronidazole. She was also allergic to methylchloroisothiazolinone and methylisothiazolinone (MC/MI). The similarity between the two molecules and the fact that the patient reacte...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2003.01364.x
更新日期:2003-09-01 00:00:00
abstract::Dermatologists performing surgical procedures face occupational and health hazards when exposed to surgical plume released during electrosurgical and ablative laser procedures. These hazardous fumes have toxic, infectious and carcinogenic effects. Understanding this risk is of particular importance during the COVID-19...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/ced.14350
更新日期:2020-10-01 00:00:00
abstract::A 71-year-old woman with vitiligo developed multiple actinic keratoses only on the vitiligo skin of sun-exposed areas. She had worked outdoors as a farmer for a long period. Although actinic skin cancers arising on vitiligo skin have rarely been reported, the present case demonstrates that vitiligo skin is more suscep...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.1999.00454.x
更新日期:1999-05-01 00:00:00
abstract::Pyostomatitis vegetans is a rare oral disorder often associated with gastrointestinal and/or cutaneous diseases and sometimes with other disorders. The association of pyostomatitis vegetans with inflammatory bowel disease, particularly ulcerative colitis, is well known and in most cases bowel disease precedes the onse...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.2004.01438.x
更新日期:2004-01-01 00:00:00
abstract::Mohs' surgery for basal cell carcinoma (BCC) is widely recommended by dermatologists as first line surgical therapy for recurrent or ill-defined skin tumours. The technique assumes that BCC spread by contiguous growth and that all tumour cells have to be removed. Advocates claim that Mohs' surgery provides a better ch...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1046/j.1365-2230.1999.00433.x
更新日期:1999-03-01 00:00:00
abstract::Dermatomyositis (DM) in a inflammatory disorder of skeletal muscle and skin closely related to other connective tissue diseases; however, to date, no conclusive immunofluorescence (IMF) data are available for the disorder. The aim of this study was therefore to analyse retrospectively the clinical, histological and di...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:
更新日期:1997-03-01 00:00:00
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_15...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.14193
更新日期:2020-08-01 00:00:00
abstract::Acne is a common and complex skin disease, with a very complex pathogenesis. Although in women the relationship between acne and insulin resistance is well known, in particular in women with PCOS, in males this relationship has been poorly investigated. In total, 20 subjects with an altered metabolic profile were cons...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,随机对照试验
doi:10.1111/ced.12673
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Lichen sclerosus (LS) is a chronic inflammatory dermatosis with a predilection for the anogenital region, which mainly affects prepubertal girls and postmenopausal women. The cause is unknown, but a number of potential aetiological factors have been identified. AIM:To examine a cohort of patients with prepu...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13894
更新日期:2019-10-01 00:00:00
abstract:BACKGROUND:Metallothioneins (MTs) are a group of proteins widely distributed in tissues regulating metal metabolism, scavenging free radicals, and taking part in immunological reactions. Knockout mice for MT genes I and II (MT(-/-)) exhibit reduced tolerance to ultraviolet B injury in vivo. Upregulation of MT proteins ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2007.02399.x
更新日期:2007-07-01 00:00:00