“…1 ). 6 The layer in which the blisters develop in the different types of EB is correlated with the location of the altered protein in the skin structure. Figure 1 Schematic representation of the skin layers associated with the different types of epidermolysis bullosa (EB).…”
Section: Introductionmentioning
confidence: 99%
“…In specific EB subtypes, changes in nails and hair can also occur. 3 , 6 Progressive healing can result in contractures and/or mutilations of the extremities, microstomy, and esophageal stricture, common features in more severe cases of DEB and KEB. Specific subtypes of EB associated with severe phenotypes may involve other organs and systems, such as osteoporosis, joint contractures, cardiomyopathy, renal amyloidosis, and growth retardation, among others.…”
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
“…1 ). 6 The layer in which the blisters develop in the different types of EB is correlated with the location of the altered protein in the skin structure. Figure 1 Schematic representation of the skin layers associated with the different types of epidermolysis bullosa (EB).…”
Section: Introductionmentioning
confidence: 99%
“…In specific EB subtypes, changes in nails and hair can also occur. 3 , 6 Progressive healing can result in contractures and/or mutilations of the extremities, microstomy, and esophageal stricture, common features in more severe cases of DEB and KEB. Specific subtypes of EB associated with severe phenotypes may involve other organs and systems, such as osteoporosis, joint contractures, cardiomyopathy, renal amyloidosis, and growth retardation, among others.…”
Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epidermolysis bullosa (within the lamina lucida of the basement membrane), dystrophic epidermolysis bullosa (below the basement membrane), and Kindler epidermolysis bullosa (mixed skin cleavage pattern). Furthermore, epidermolysis bullosa is stratified into several subtypes, which consider the clinical characteristics, the distribution of the blisters, and the severity of cutaneous and extracutaneous signs. Pathogenic variants in at least 16 genes that encode proteins essential for the integrity and adhesion of skin layers have already been associated with different subtypes of epidermolysis bullosa. The marked heterogeneity of the disease, which includes phenotypes with a broad spectrum of severity and many causal genes, hinders its classification and diagnosis. For this reason, dermatologists and geneticists regularly review and update the classification criteria. This review aimed to update the state of the art on inherited epidermolysis bullosa, with a special focus on the associated clinical and genetic aspects, presenting data from the most recent reclassification consensus, published in 2020.
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“…In congenital cases, the lesions are more severe, accompanied by mucosal fragility, and might involve other organs than the skin. 2 In noncongenital cases, the skin fragility is less severe and the lesions are usually localized to the extremities of the limbs, occasionally only expressed as nail/hoof dystrophy. 3 Based on the ultrastructural level of skin cleavage, there are 4 major classical types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB).…”
A 6-day-old Belgian Blue-Holstein calf was referred because of a syndrome resembling epidermolysis bullosa simplex (EBS). The clinical phenotype included irregular and differently sized erosions and ulcerations spread over the body, in particular on the limbs and over bone prominences, as well as in the nasal planum and oral mucosa. Blisters were easily induced by rubbing the skin. The skin lesions displayed a clear dermal-epidermal separation at the level of the basal cell layer. Post mortem examination revealed erosions in the pharynx, proximal esophagus, and rumen. Whole-genome sequencing revealed a heterozygous disruptive in-frame deletion variant in KRT5 (c.534_536delCAA). Genotyping of both parents confirmed the variant as de novo mutation. Clinicopathological and genetic findings were consistent with the diagnosis of KRT5-related EBS providing the second example of a spontaneous mutation causing epidermolysis bullosa in cattle.
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