Epidermolysis Bullosa
Hereditary Epidermolysis Bullosa in Saudi Arabia, Epidemiological, Pathological, Ultrastructural Study of Fourteen Patients
... Hereditary epidermolysis bullosa (EB) constitutes a genodermatosis group with variable clinical ...of epidermolysis bullosa have resulted in the development of new diagnostic tools, including ...
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Prenatal Diagnosis for Recessive Dystrophic Epidermolysis Bullosa in 10 Families by Mutation and Haplotype Analysis in the Type VII Collagen Gene (COL7A1)
... (1995) Prenatal diagnosis of the hallo- peau siemens form of recessive dystrophic epidermolysis bullosa by type VII collagen gene analysis in six pregnancies at risk for. recurrence.[r] ...
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End Stage Renal Disease in a Child with Epidermolysis Bullosa
... A 13-year-old white male affected with severe generalized recessive dystrophic EB was evaluated in a regular health control by the medical team of DEBRA (Dystrophic Epidermolysis Bullosa Research ...
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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 skin. Most cases are due to dominantly acting mutations in ...
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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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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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FREE JEJUNAL GRAFT FOR TREATMENT OF ESOPHAGEAL STRICTURE DUE TO FAMILIAL EPIDERMOLYSIS BULLOSA
... Several surgical techniques have been proposed for the treatment of esophageal stricture due to epidermolysis bullosa. Primary resection and anastomosis may be applied for short strictures. Also, gastric ...
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Management of chronic wounds in patients with dystrophic epidermolysis bullosa: challenges and solutions
... Abstract: Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of severe inherited blistering diseases that affects 500,000 individuals ...
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Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa
... Inherited epidermolysis bullosa (EB) refers to a clinically and genetically heterogeneous group of rare disorders characterized by fragility of the skin and mucous mem- ...
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Occupational therapy for epidermolysis bullosa: clinical practice guidelines
... Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational therapy (OT) for children and adults living ...
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The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers
... with epidermolysis bullosa and their caregivers must make difficult choices and compromises regarding education, career, and personal ...by epidermolysis bul- losa result in decreased academic and ...
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Mapping health care of rare diseases: the example of epidermolysis bullosa in Germany
... with epidermolysis bullosa?” determined whether the participant would undergo the complete interview; in case of a negative answer, the interview ended after general information on the respective clinic and ...
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Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases
... AJCC, American Joint Committee on Cancer; BCC, basal cell carcinoma; cSCC, cutaneous squamous cell carcinoma; DDEB, dominant dystrophic epidermolysis bullosa; DEB, dystrophic epidermolys[r] ...
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EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa
... Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue ...
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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 specific to ...
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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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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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Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
... or epidermolysis bullosa acquisita, are directed against epidermal basal membrane and generate a fine linear colouring between the stratum basale and the connective ...
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Dystrophic Epidermolysis Bullosa Pruriginosa: The First Report of A Family in Malaysia
... Dystrophic epidermolysis bullosa pruriginosa (DEBP), however, has been recognized as a distinct subtype of DEB in which the patients tend to present late and have severe pruritus 2 ...
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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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