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 loss but no obvious dermatological phenotype. Recently, a large deletion of approximately 342 kb, encompassing the coding region of GJB6 encoding C x 30, but not affecting GJB2, was shown to be associated with hearing loss. From analysis of patient skin, we provide immunohistochemical and bioinformatic data to show that the expression of C x 26 is affected by del(GJB6-D13S1830) in a cell-type-specific manner within the sweat gland. This putative regulatory element of C x 26 expression may be a key factor related to the severe or profound deafness associated with del(GJB6-D13S1830).
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Common JE,Bitner-Glindzicz M,O'Toole EA,Barnes MR,Jenkins L,Forge A,Kelsell DPdoi
10.1111/j.1365-2230.2005.01878.xkeywords:
subject
Has Abstractpub_date
2005-11-01 00:00:00pages
688-93issue
6eissn
0307-6938issn
1365-2230pii
CED1878journal_volume
30pub_type
杂志文章abstract:BACKGROUND:Acne vulgaris is a common skin problem that affects up to 90% of adolescents. Colonization of the duct with Propionibacterium species is one of the factors implicated in the development of acne. Owing to the increasing incidence of antibiotic resistance, there has been an greater interest in the development ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,随机对照试验
doi:10.1111/j.1365-2230.2007.02472.x
更新日期:2007-11-01 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::Contact hypersensitivity from topical corticosteroids is becoming increasingly recognized; it is present in 2-5% of the patients attending contact dermatitis clinics. The use of a corticosteroid series containing tixocortal pivalate 1% (petrolatum), to detect hypersensitivity to hydrocortisone, and other steroids 1% (...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.1994.tb01106.x
更新日期:1994-01-01 00:00:00
abstract::Recent studies suggest that histamine H2-receptor antagonists may be useful in the treatment of urticaria. This study was conducted to determine whether famotidine, a H2 antagonist, is effective in the treatment of acute urticaria and compare its effect with that of the H1 antagonist diphenhydramine. In this prospecti...
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.1365-2230.2000.00609.x
更新日期:2000-05-01 00:00:00
abstract::Four children affected by intradermal vascular proliferations are presented. The clinicopathological findings closely resemble those of cases described as angioblastoma, a familiar entity in the Japanese literature. Some people suggest that angioblastoma is the same as the tufted angioma described by Wilson-Jones. We ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb00318.x
更新日期:1991-03-01 00:00:00
abstract::Stewart-Bluefarb syndrome (SBS) is a subtype of pseudo-Kaposi sarcoma (PKS), which is associated with congenital arteriovenous malformation. It is a rare syndrome, characterized by cutaneous lesions with onset in the second decade of life. We report a case of SBS in a 33-year-old man presenting with a 15-year history ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12839
更新日期:2016-07-01 00:00:00
abstract::Klippel-Trenaunay (KT) syndrome is a vascular malformation characterized by a port-wine stain, varicose veins and hypertrophy of the affected limb. Ulceration is considered an uncommon complication of KT syndrome and occurrence of skin cancer has been previously reported only in one case. We observed a case of KT synd...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2002.01009.x
更新日期:2002-05-01 00:00:00
abstract::We describe the case of a 68-year-old woman who presented with asymptomatic skin nodules and symptoms of anaemia, and was found to have acute megakaryoblastic leukaemia with fibrosis, a condition now believed to correspond to the former diagnosis of acute myelofibrosis. There is only one previous report of skin lesion...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1996.tb00062.x
更新日期:1996-05-01 00:00:00
abstract::Granuloma annulare and localized morphoea are both well described in the dermatological literature. We now present two patients with both of these diseases, a comorbidity rarely described. A possible pathogenic relationship is discussed. ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.1999.00425.x
更新日期:1999-03-01 00:00:00
abstract::Dermatomyositis has a significant clinical component of pruritus that has not yet been studied. Pruritus can significantly affect the life of patients. The aim of the present work was to study the degree of pruritus experienced by patients. A four-question survey was sent to patients with documented dermatomyositis. T...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2004.01510.x
更新日期:2004-05-01 00:00:00
abstract::The primary cause of collagen degeneration in necrobiosis lipoidica (NL) is proposed to be immunologically mediated vascular disease. Ultraviolet (UV)A1 has been used successfully to treat scleroderma in which both vascular damage and collagen dysregulation also occur. We treated six patients with NL [(five women; mea...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.02059.x
更新日期:2006-03-01 00:00:00
abstract::A 15-year-old boy with Kaposi's varicelliform eruption complicating healing second degree burns is reported. Clinically, umbilicated vesicles and pustules evolving to extensive erosions appeared over previously burned areas, sparing normal skin. Rapid diagnosis was made on the basis of the presence of multinucleate gi...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:
更新日期:1996-03-01 00:00:00
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
doi:10.1111/ced.12190
更新日期:2013-12-01 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:The dorsum of the hand is a common site for squamous cell carcinoma, and excision with appropriate margins often results in surgical defects that cannot be repaired by primary side-to-side closure. AIM:To assess healing time, complications and resulting scars when surgical wounds on the dorsum of the hand w...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12044
更新日期:2013-08-01 00:00:00
abstract::There is variation in the treatment of lower limb cellulitis (LLC) with no agreement on the most effective antibiotic regimen. Many patients with cellulitis fail to respond to first-line antibiotics. This can negatively affect patient care and result in unnecessary hospital admissions. The aim of this systematic revie...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/ced.14398
更新日期:2021-01-01 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::A scleroderma-like disease has recently been described in association with taxanes. We present the first case of diffuse scleroderma occurring in a woman treated with doxorubicin and cyclophosphamide for breast cancer. The clinical pattern of skin involvement and histological alterations were identical to those found ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.2004.01668.x
更新日期:2005-03-01 00:00:00
abstract:BACKGROUND:Mortality from malignant melanoma (MM) has increased in Chile in the past decade. The location of MM lesions on the body has been correlated with prognosis and survival. AIM:To review body site and gender relationships with histopathologically confirmed primary MM in Chile. METHODS:Records of 575 cases pre...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.02038.x
更新日期:2006-05-01 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::We report the occurrence of severe symptomatic bronchoconstriction in an atopic asthmatic subject following the application of coal tar bandages. Investigations showed that this was likely to have been caused by inhalation of coal tar vapour. We suggest that coal tar preparations should be used with caution in asthmat...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1995.tb01286.x
更新日期:1995-01-01 00:00:00
abstract::A 78-year-old Caucasian woman developed Sweet's syndrome which progressed over 3 weeks to pyoderma gangrenosum and subcorneal pustule formation. In spite of treatment the patient died and post-mortem examination revealed cryptogenic cirrhosis which could have explained the spectrum of neutrophilic skin disease observe...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb00375.x
更新日期:1991-07-01 00:00:00
abstract::Lipoid proteinosis is an autosomal recessive condition associated with variable scarring and infiltration of skin and mucosae. The disorder has recently been shown to result from loss-of-function mutations in the extracellular matrix protein 1 gene (ECM1) on 1q21. Extracellular matrix protein 1 has important physiolog...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2003.01341.x
更新日期:2003-09-01 00:00:00
abstract::A patient with primary malignant melanoma localized to the right gluteal region is described. Four years later and after intercurrent influenza, disseminated metastases of malignant melanoma to the skin occurred. After a further 6 months melanodermia developed and lasted until the death of the patient (6 months later)...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1993.tb02250.x
更新日期:1993-09-01 00:00:00
abstract::A 59-year-old woman with a single cuff-like plaque, consisting of multiple skin-coloured to bluish cysts and comedones on her right forearm is reported. The solitary lesion resembled, morphologically and histologically, the Favre-Racouchot syndrome. The above condition is another case of the previously described actin...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1993.tb02181.x
更新日期:1993-05-01 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::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::Dermatology services are largely outpatient based. Time for satisfactory patient communication is limited, with an average of around 15 min per new patient. The amount of new information that can be retained after verbal communication alone is limited during such consultations. One way to reinforce such information is...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2004.01437.x
更新日期:2004-01-01 00:00:00
abstract:BACKGROUND:Atopic eczema (AE) is characterized by reduced skin hydration (SH) and impaired integrity of the skin. Proper emollient usage is an important facet of AE management and patients are encouraged to use emollients liberally. AIM:To evaluate whether the amount of emollient and skin cleanser used correlates with...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03341.x
更新日期:2010-01-01 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