Type VII collagen IgE autoantibodies in epidermolysis bullosa acquisita: more common than suspected.

Type VII collagen IgE autoantibodies in epidermolysis bullosa acquisita: more common than suspected. Br J Dermatol. 2019 May;180(5):981-983 Authors: Ludwig RJ PMID: 31025734 [PubMed - in process]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research

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Abstract Epidermolysis Bullosa (EB) is a group of genetic conditions resulting in skin and mucosal membrane fragility. EB is characterised by chronic wounds and scarring, consequent functional limitations and high levels of pain. In its most severe forms, life expectancy is significantly foreshortened. PMID: 31587254 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Plectin is a giant multifunctional cytolinker protein (500 kDa) expressed in several tissues with essential roles in striated and smooth muscles, epithelia and nerve. It is a component of hemidesmosomes, desmosomes and focal adhesion contacts where it interacts with actin and intermediate filaments. Pathogenic variants in the PLEC1 gene lead to a group of diseases including epidermolysis bullosa (simplex ogna with or without muscular dystrophy, myasthenic syndrome, or pyloric atresia) and isolated limb-girdle muscular dystrophy.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
We report the morphological, ultrastructural and western blot analysis of 7 patients from six families carrying pathological variants in PLEC1: 3 with LGMD, 1 with LGMD+EB, 1 with EB+CMD and 2 with diffuse weakness. Skeletal muscle biopsies were performed in the seven patients; six adult patients (20 to 59 years of age; 3M/3F) and one female child (1 year old).
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research
Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited skin fragility disorder caused by loss-of-function mutations in COL7A1 encoding type VII collagen (C7), the major component of anchoring fibrils (AFs) that ensure dermal-epidermal adherence. From birth, RDEB patients endure lifelong skin and mucosal blistering with both local and systemic complications including aggressive metastatic squamous cell carcinomas (SCC).1 Currently, treatments are only symptomatic although clinical studies of novel therapeutics, including gene2 and cell3 therapies are emerging. One potential safety issue with suc...
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research
Abeona Therapeutics announced that the FDA has placed a clinical hold on its planned Phase 3 clinical trial evaluating autologous cell therapy EB-101 in patients with recessive dystrophic epidermolysis bullosa.
Source: PharmaManufacturing.com - Category: Pharmaceuticals Source Type: news
Rhys has epidermolysis bullosa, a painful, life-limiting condition that has left him unable to walk.
Source: BBC News | Health | UK Edition - Category: Consumer Health News Source Type: news
Chronic pruritus causes major morbidity in epidermolysis bullosa (EB). The substance P-neurokinin 1 receptor (SP-NK1) pathway is a promising target for treating EB-related pruritus.
Source: Journal of the American Academy of Dermatology - Category: Dermatology Authors: Source Type: research
In conclusion, our results show that surgical correction followed by skin dressing changes is an effective approach to improving mitten-hand malformations in RDEB patients. PMID: 31502914 [PubMed - as supplied by publisher]
Source: Journal of Plastic Surgery and Hand Surgery - Category: Surgery Tags: J Plast Surg Hand Surg Source Type: research
We report a case of a 39-year-old male with autosomal dominant dystrophic EB, presenting with bilateral leg swelling of one-week duration. There was no other significant past medical history. The physical examination was remarkable for scars and erosions over all body areas, with all extremities with blisters and ulcers covered, absent finger and toenails and bilateral lower extremity edema. Serum creatinine was 0.9 mg/dL, albumin 1.3 g/dL and urine protein excretion 3.7 g/24 h. Viral markers (hepatitis-B, C, and HIV), complement c3 and c4 levels and auto-immune antibody profile all remained neg...
Source: Renal Failure - Category: Urology & Nephrology Tags: Ren Fail Source Type: research
Abstract Bullous diseases are uncommon in children; however, as they have the potential to affect quality of life, occasionally have long-term side effects in the setting of scarring processes, and carry a rare risk of underlying malignancy [e.g., with paraneoplastic pemphigus (PNP)], knowledge of their clinical presentation and treatment options is essential. Given the rarity of these conditions, our current state of knowledge is largely derived from case reports and case series, with a paucity of evidence-based recommendations. In this review, we discuss the clinical presentation of and treatment options for lin...
Source: Paediatric Drugs - Category: Pediatrics Authors: Tags: Paediatr Drugs Source Type: research
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