Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America
Sign Up to like & getrecommendations! Published in 2018 at "JAMA Dermatology"
DOI: 10.1001/jamadermatol.2018.4673
Abstract: Importance Children with epidermolysis bullosa (EB) comprise a rare population with high morbidity and mortality. An improved understanding of the clinical trajectory of patients with EB, including age at time of clinical diagnosis and major… read more here.
Keywords: clinical events; epidermolysis bullosa; ebs; microscopy ... See more keywords
Molecular and Clinical Outcomes After Intravenous Gentamicin Treatment for Patients With Junctional Epidermolysis Bullosa Caused by Nonsense Variants.
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DOI: 10.1001/jamadermatol.2021.5992
Abstract: Importance Junctional epidermolysis bullosa (JEB) is an incurable blistering skin disorder with high infant mortality often caused by nonsense variants in the genes that encode laminin 332. Objective To evaluate the safety and outcomes following… read more here.
Keywords: treatment patients; epidermolysis bullosa; nonsense variants; laminin 332 ... See more keywords
Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa
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DOI: 10.1002/mgg3.1347
Abstract: Abstract Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function… read more here.
Keywords: variants col7a1; dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa ... See more keywords
[Dressing material in children with epidermolysis bullosa : A qualitative study on experiences of parents and affected children].
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DOI: 10.1007/s00482-019-00439-8
Abstract: BACKGROUND Epidermolysis bullosa (EB) is a rare genetic disease that soon becomes apparent after a child's birth. Mechanical stress in particular causes painful skin-blistering that potentially leads to numerous complications. Dressing materials fulfill important functions for children… read more here.
Keywords: affected children; epidermolysis bullosa; parents affected; dressing materials ... See more keywords
Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.
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DOI: 10.1007/s10517-021-05182-8
Abstract: Epidermolysis bullosa is a severe hereditary disease caused by mutations in genes encoding cutaneous basement membrane proteins. These mutations lead to dermal-epidermal junction failure and, as a result, to disturbances in the morphological integrity of… read more here.
Keywords: pathogenetic therapy; epidermolysis bullosa; epidermolysis; therapy epidermolysis ... See more keywords
Quality of life in people with epidermolysis bullosa: a systematic review
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DOI: 10.1007/s11136-020-02495-5
Abstract: Purpose Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life (QoL). This systematic review synthesizes the current evidence about the QoL of individuals with EB. Methods… read more here.
Keywords: systematic review; qol individuals; epidermolysis bullosa; quality life ... See more keywords
Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome
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DOI: 10.1007/s13555-018-0237-2
Abstract: The association of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) and aplasia cutis congenita (ACC) was described by El Shafie et al. (J Pediatr Surg 14(4):446–449, 1979) and Carmi et al. (Am J Med Genet 11:319–328, 1982).… read more here.
Keywords: template; epidermolysis bullosa; regeneration template; dermal regeneration ... See more keywords
Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.
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DOI: 10.1016/j.ad.2017.06.024
Abstract: Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen,… read more here.
Keywords: epidermolysis bullosa; pregnancy; dystrophic epidermolysis; recessive dystrophic ... See more keywords
Functional therapies for cutaneous wound repair in epidermolysis bullosa
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DOI: 10.1016/j.addr.2017.12.003
Abstract: ABSTRACT Chronic wounding as a result of recurrent skin blistering in the painful genetic skin disease epidermolysis bullosa, may lead to life‐threatening infections, increased risk of tumor formation, and other serious medical complications. Therefore, epidermolysis… read more here.
Keywords: functional therapies; therapies cutaneous; epidermolysis bullosa; gene ... See more keywords
A nutrition-based approach to epidermolysis bullosa: Causes, assessments, requirements and management.
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DOI: 10.1016/j.clnu.2019.02.023
Abstract: Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of rare diseases characterized by skin and mucous membrane fragility. EB primarily involves the skin and, in specific subtypes, the mucous membrane, resulting in… read more here.
Keywords: based approach; nutrition; epidermolysis bullosa; nutrition based ... See more keywords
A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the American Academy of Dermatology"
DOI: 10.1016/j.jaad.2019.11.038
Abstract: BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen (C7). At present, treatment is mainly supportive. OBJECTIVE To determine whether intravenous allogeneic bone marrow-derived mesenchymal stromal/stem… read more here.
Keywords: intravenous allogeneic; label; recessive dystrophic; dystrophic epidermolysis ... See more keywords