Abstract:
:Recessive dystrophic epidermolysis bullosa (RDEB; OMIM #226600) is one of the most devastating subtypes of epidermolysis bullosa, a group of skin and mucous membrane blistering disorders often associated with extracutaneous manifestations. RDEB is caused by mutations in COL7A1, the gene encoding type VII collagen (C7), and to date over 700 different mutations in the 8835 nucleotides constituting the open reading frame or adjacent exon-intron boundaries of COL7A1 have been described. We used targeted next-generation sequencing to identify seven previously unreported mutations in a cohort of 17 Mexican patients who were diagnosed with RDEB based on clinical presentation and immunoepitope mapping. Our study expands the spectrum of mutations identified in this cohort, including those suitable for emerging therapies reliant on precise genotyping.
journal_name
Clin Exp Dermatoljournal_title
Clinical and experimental dermatologyauthors
Saeidian AH,Youssefian L,Moreno Trevino MG,Fortuna G,Vahidnezhad H,Atanasova VS,Uitto J,Salas-Alanis JC,South APdoi
10.1111/ced.13407subject
Has Abstractpub_date
2018-07-01 00:00:00pages
579-584issue
5eissn
0307-6938issn
1365-2230journal_volume
43pub_type
杂志文章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::We report a patient with purely cutaneous Rosai-Dorfman disease (RDD) who presented with a solitary, asymptomatic plaque on the back of her left thigh, with characteristic, large histiocytoid cells exhibiting emperipolesis histologically. Cutaneous lesions occur in 27% of patients with lymph node involvement in RDD ho...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.1998.00312.x
更新日期:1998-01-01 00:00:00
abstract::Ras-associated autoimmune leucoproliferative disorder (RALD) is a nonmalignant syndrome associated with somatic KRAS mutations. We report a patient with RALD and cutaneous lesions, the first such case reported, to our knowledge. An 8-year-old boy presented with erythematous plaques on his face and body, along with lym...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13668
更新日期:2018-12-01 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::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:BACKGROUND:Lentigo maligna (LM) and lentigo maligna melanoma (LMM) can be difficult to manage surgically. Predetermined margins can be inadequate because of subclinical spread, or can affect function when margins are adjacent to the eye or mouth. AIM:To describe our 5-year experience in Nottingham of using the staged ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12363
更新日期:2014-07-01 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:BACKGROUND:Immune reconstitution inflammatory syndrome (IRIS) occurs in 10-25% of unselected patients starting highly active antiretroviral therapy (HAART). About 52-78% of these cases involve cutaneous features. AIM:To describe the prevalence and incidence of new dermatological conditions within 6 months of patients ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03620.x
更新日期:2010-07-01 00:00:00
abstract:BACKGROUND:Symptomatic dermographism is a common urticarial condition. There is a need for an objective method to determine the provocation threshold for patients, in order to facilitate individualized diagnosis and treatment. AIM:To compare the dermal responses evoked by a new type of dermographometer (FricTest) with...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12107
更新日期:2013-06-01 00:00:00
abstract::Acute generalized exanthematous pustulosis (AGEP) is an uncommon disease, which presents as a nonfollicular erythematous sterile pustular eruption. More than 90% of the cases are induced by adverse drug reactions, often triggered by anti-infectious systemic drugs. We report a case of itraconazole-induced AGEP in a 22-...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03440.x
更新日期:2009-12-01 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:BACKGROUND:Port-wine stains (PWS) are congenital capillary malformations that persist throughout life. Laser therapy is a common treatment for PWS, and pulsed-dye laser is the current treatment of choice. AIM:To compare the clinical results on untreated PWS of two dye lasers with different wavelengths and pulse durati...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2009.03399.x
更新日期:2010-03-01 00:00:00
abstract:BACKGROUND:The main cause of lichen simplex chronicus (LSC) is not known but there is evidence to suggest that neurological abnormalities may be implicated in its aetiology. AIM:To investigate neuropathy in patients with LSC on the limbs. METHODS:In total, 23 consecutive patients [15 women (65.2%) and 8 men (34.8%); ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2008.02969.x
更新日期:2009-06-01 00:00:00
abstract::Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is a rare congenital neurocutaneous disease. It is characterized clinically by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye, ipsilateral porencephalic cysts with cortical atrophy, cranial asymmetry, marked developmental ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1046/j.1365-2230.2003.01329.x
更新日期:2003-07-01 00:00:00
abstract::Extramammary Paget's disease (EMPD) is considered to be an intraepithelial adenocarcinoma. Typically involved anatomical sites are the vulvar, perianal, perineal, scrotal and penile regions. Clinically, the lesions present as well-defined, moist, erythematous plaques usually accompanied by pruritus. An unusual feature...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2008.02731.x
更新日期:2008-08-01 00:00:00
abstract:BACKGROUND:We have previously reported that about 30% of patients affected by a new variant of endemic pemphigus foliaceus (EPF) in El Bagre, Colombia (termed El Bagre-EPF or pemphigus Abreu-Manu) have systemic compromise. In the current study, we focused on studying autoreactivity to the kidney and its pathological co...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.13566
更新日期:2018-08-01 00:00:00
abstract::Postinflammatory hypopigmentation is a common cause of acquired hypopigmentary disorders. It can be a result of cutaneous inflammation, injury or dermatological treatment. There are also many specific conditions that present with hypopigmentation other than postinflammatory hypopigmentation. Most cases of postinflamma...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章,评审
doi:10.1111/j.1365-2230.2011.04088.x
更新日期:2011-10-01 00:00:00
abstract::Capecitabine was developed as a prodrug of 5-fluorouracil (FU), with the goal of improving tolerability and intratumour drug concentrations through tumour-specific conversion to the active drug against numerous types of neoplasms. The most frequent adverse cutaneous reaction associated with capecitabine is hand foot s...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2007.02451.x
更新日期:2007-09-01 00:00:00
abstract::Naturally acquired anthrax infection remains an important public-health problem in developing countries. Turkey is one of the countries in which the zoonotic form of anthrax may still be encountered. The most frequent portal of entry for anthrax spores is the skin. Although cutaneous anthrax is usually self-limiting, ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.01893.x
更新日期:2005-11-01 00:00:00
abstract::Genetic factors predisposing individuals to Behçet's disease (BD) are considered to play important roles in the development of the disease. Patients with BD exhibit elevated levels of pro-inflammatory cytokines, and affected organs show a significant neutrophil and lymphocyte infiltration. Current evidence suggests th...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.01846.x
更新日期:2005-09-01 00:00:00
abstract::Chronic hand eczema (CHE) is a debilitating and distressing disease for patients, the physical symptoms of which are compounded by psychosocial problems. Alitretinoin is an endogenously occurring physiological vitamin A derivative (retinoid) that possesses strong anti-inflammatory and immunomodulatory activity. It is ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2010.04006_1.x
更新日期:2011-03-01 00:00:00
abstract::A patient is reported who developed dysplastic naevi at an early age. He also suffered from a syndrome including Wilms' tumour, aniridia, mental retardation and diabetes mellitus in association with an interstitial deletion of the short arm of chromosome 11. It is suggested that genetic factors may be important in spo...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1990.tb02018.x
更新日期:1990-01-01 00:00:00
abstract::A 45-year-old man presented with a 7-year history of keratosis lichenoides chronica (KLC), a mucocutaneous lichenoid disorder of keratinization with no known aetiology, without significant systemic associations. Our patient also had type I diabetes mellitus, mild hypertension and lipid abnormalities. The diagnosis and...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2005.01939.x
更新日期:2006-01-01 00:00:00
abstract::Acute generalized exanthematous pustulosis (AGEP) is a severe adverse cutaneous reaction, which is mostly due to drugs, but which has also been described as occurring after infections. We report a case of severe AGEP with extensive blistering mimicking toxic epidermal necrolysis (TEN) in a 47-year-old woman. This was ...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/ced.12384
更新日期:2014-08-01 00:00:00
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
abstract::Sera from 10 patients with seborrhoeic dermatitis and from 10 age-matched healthy individuals were examined for IgG activity against Pityrosporum ovale. The IgG activity was analysed using the following techniques: an enzyme-linked immunosorbent assay (ELISA) against whole P. ovale cells, purified cell-wall carbohydra...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb00396.x
更新日期:1991-09-01 00:00:00
abstract::Four patients presenting with chronic pigmented purpuric dermatosis (CPPD) on the limbs were found to have granulomatous inflammation superimposed on the pathological changes of CPPD. Three of the four patients had hyperlipidaemia. Therefore, the granulomatous reaction observed could be associated with hyperlipidaemia...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.2007.02462.x
更新日期:2007-09-01 00:00:00
abstract::Severe cases of psoriasis and psoriasis arthritis require systemic treatment. Although a number of established drugs are in clinical use, there is a need for new compounds with an improved risk-benefit ratio with a major emphasis on long-term safety. Furthermore, patients with moderate psoriasis ask for systemic drugs...
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::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
doi:10.1111/j.1365-2230.2005.01838.x
更新日期:2005-09-01 00:00:00
abstract::We investigated skin biopsies from pemphigus vulgaris (PV) patients by light, fluorescent and electron microscopy in order to study the ultrastructural appearances of epidermis at the pre-acantholytic stage. The biopsies were obtained from uninvolved forearm skin in 10 patients with PV in the acute stage of the diseas...
journal_title:Clinical and experimental dermatology
pub_type: 杂志文章
doi:10.1111/j.1365-2230.1991.tb00401.x
更新日期:1991-09-01 00:00:00