Epidermolysis bullosa simplex
A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy
... by epidermolysis bullosa simplex with muscular dystrophy (MD-EBS), a genetic dis- order characterized by skin blistering associated with mus- cle involvement, are not reactive with antibodies ...
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Basal pharmacokinetic parameters of topically applied diacerein in pediatric patients with generalized severe epidermolysis bullosa simplex
... severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes ...
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Pain and quality of life evaluation in patients with localized epidermolysis bullosa simplex
... of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and ...
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Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy
... Epidermolysis bullosa simplex with muscular dystrophy (MD-EBS) is a disease characterized by generalized blister- ing of the skin associated with muscular ...• epidermolysis bullosa ...
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Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility
... Epidermolysis bullosa (EB) simplex is a rare genetic condition typified by superficial bullous lesions that result from frictional trauma to the ...EB simplex and revealed novel avenues for ...
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Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophy
... In the present study we analyzed the downstream effects of PLEC mutations on plectin protein expression and localization, the structure of the extrasarcomeric desmin cytoskeleton, protei[r] ...
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The experiences of young people with epidermolysis bullosa simplex: a qualitative study
... Simplex (EBS) is generally considered to be the mildest form of EB. Blistering can either be localised to the hands and feet or found in areas of friction including the face, and the main clinical effects are pain ...
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A rare case of skin blistering and esophageal stenosis in the course of epidermolysis bullosa - case report and literature review
... EB: Epidermolysis bullosa; EBS: Epidermolysis bullosa simplex; JEB: Junctional epidermolysis bullosa; KS: Kindler syndrome; PPI: Proton pump inhibitor; TGF- β 1: ...
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Hereditary Epidermolysis Bullosa in Saudi Arabia, Epidemiological, Pathological, Ultrastructural Study of Fourteen Patients
... Epidermolysis bullosa simplex (EBS) was diagnosed when the blister was present intraepidermally at the level of the basal keratinocytes. Junctional EB (JEB) was diagnosed when the lamina densa was at ...
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Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster
... Based on these similarities between EHK and epidermolysis bullosa simplex, we used linkage analysis to test the hypothesis that the EHK phenotype is due to mutations in the suprabasilar [r] ...
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A case of a patient with severe epidermolysis bullosa surviving to adulthood
... In November 2012, the patient was examined at The Epidermolysis Bullosa Center Freiburg. Histological examination of skin biopsy showed no signs of squamous cell carcinoma, and X-ray contrast study of the ...
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Epidermolysis Bullosa, Dental and Anesthetic Management: A Case Report
... Epidermolysis bullosa (EB) is a group of rare inherited skin and mucous membrane disorders in which blister formation may arise spontaneously or following a minor ...
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Esophageal Web: A Previously Unrecognized Complication of Epidermolysis Bullosa
... At 1 1 years of age dilation was again required because of severe dysphagia and resulted in esophageal perforation with the development of mediastinitis.. Treatment included.[r] ...
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End Stage Renal Disease in a Child with Epidermolysis Bullosa
... [1] Fine, J.D., Eady, R.A., Bauer, E.A., Bauer, J.W., Bruckner-Tuderman, L., Heagerty, A., Hintner, H., Hovnanian, A., Jonkman, M.F., Leigh, I., McGrath, J.A., Mellerio, J.E., Murrell, D.F., Shimizu, H., Uitto, J., ...
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Occupational therapy for epidermolysis bullosa: clinical practice guidelines
... Epidermolysis bullosa (EB) is a rare genetic disorder charac- terized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or ...EB ...
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Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa
... (1994) A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Pulkkinen L, Christiano AM, Airenne T,[r] ...
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Periodontitis and Hereditary Epidermolysis Bullosa: A Rare Case Report and Review
... Hereditary epidermolysis bullosa (EB) refers to a group of rare genodermatoses and mutational impairment of the structural and functional integrity of skin, ...
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The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers
... that epidermolysis bullosa causes financial burden for a majority of patients and their ...from epidermolysis bullosa; in addition, ...all epidermolysis bullosa-related expenses ...
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Specific affinity between fibronectin and the epidermolysis bullosa acquisita antigen
... the epidermolysis bullosa acquisita antigen, and that this affinity is mediated by the gelatin/collagen-binding domain of fibronectin (Mr = ...in epidermolysis bullosa acquisita often occurs ...
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Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa
... Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous ...
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