Junctional Epidermolysis Bullosa: A Clinical Overview

Lin, Andrew N.; Carter, D. Martin

doi:10.1007/978-1-4612-2914-8_8

Cited by 7 publications

(3 citation statements)

References 81 publications

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“…Blisters that form inside the lamina lucida are a hallmark of the autosomal recessive condition JEB. Clinical manifestations are typically used to differentiate between subtypes, which include the generalised gravis (Herlitz) type, generalised mitis (non-Herlitz) type, cicatricial, acral, inverse, and progressive [7]. Based on the clinical symptomatology, histological examination, and immunofluorescence studies, this patient most likely had Herlitz-type JEB, which manifested as widespread blistering.…”

Section: Discussionmentioning

confidence: 99%

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Raza¹,

Zia²,

Farahi³

et al. 2023

Cureus

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Epidermolysis bullosa (EB) is a rare heterogeneous group of diseases which typically presents with extensive blistering and mucocutaneous erosions. EB is mechanobullous in nature and thus commonly involves sites of trauma and friction. It is a painful and disfiguring disorder. The involvement of different internal organs and systems, such as respiratory, genitourinary, and gastrointestinal systems, has been reported in the literature depending on the type of EB. We report a case of junctional epidermolysis bullosa (JEB) with urogenital involvement in a female child in Pakistan. JEB is a rare subtype of EB which is transmitted in an autosomal recessive pattern of inheritance. It classically affects neonates. Diagnosis is established after clinical examination, and investigations are directed at the exploration of skin lesions such as histopathological and direct immunofluorescence studies. Management of patients is primarily supportive.

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Section: Discussionmentioning

confidence: 99%

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Raza¹,

Zia²,

Farahi³

et al. 2023

Cureus

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“…Esophageal stricture is the most common and most severe complication of epidermolysis bullosa in youth and adulthood (10). The autosomal recessive form of epidermolysis bullosa most extensively involves the gastrointestinal tract.…”

Section: Discussionmentioning

confidence: 99%

“…Bougienage has been used for more than 60 years to alleviate the symptoms of esophageal strictures complicating RDEB (11‐13), but it is now considered to be contraindicated because tangential shearing forces cause detachment of the mucous membrane of the esophagus with eventual formation of scar or stricture. More recent investigators suggest that bougienage should be avoided because of the risk of complications (3,5,10,16). Flexible endoscopy cannot be used for the same reason.…”

Section: Discussionmentioning

confidence: 99%

Esophageal Strictures in Children with Recessive Dystrophic Epidermolysis Bullosa: Experience of Balloon Dilatation in Nine Cases

Fujimoto,

Lane,

Miyano

et al. 1998

J. pediatr. gastroenterol. nutr.

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Background:Recessive dystrophic epidermolysis bullosa is a rare disorder characterized by extreme vulnerability of the squamous epithelium and mucous membranes. Minor trauma such as is caused by swallowing solid food is followed by blistering and scarring. Stricture formation at the pharyngoesophageal junction (C6 or C7) is the severest complication of this disease.Methods:We evaluate the effectiveness of Microvasive Rigiflex balloon dilatation and extensive nutritional support as a primary treatment for this condition. Nine of 21 recessive dystrophic epidermolysis bullosa patients developed esophageal strictures at the level of the pharyngo‐esophageal junction (C6). We treated them with intensive nutritional therapy followed by balloon dilatation, which produces longitudinal pressure and provides prompt relief from esophageal stricture. Eleven balloon dilatations have been performed in 9 patients.Results:All patients had poor physical development and were severely malnourished; extensive nutritional support was required before treatment could begin. Balloon dilatation was performed once in seven patients and twice in two patients. No recurrent stricture formation was observed after balloon dilatation.Conclusion:Intensive nutritional support followed by balloon dilatation is the first choice of treatment for esophageal strictures complicating recessive epidermolysis bullosa. By following this regime, invasive surgery can be avoided.

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Laminins and human disease

McGowan

Marinkovich

2000

Microsc. Res. Tech.

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The laminin protein family has diverse tissue expression patterns and is involved in the pathology of a number of organs, including skin, muscle, and nerve. In the skin, laminins 5 and 6 contribute to dermal‐epidermal cohesion, and mutations in the constituent chains result in the blistering phenotype observed in patients with junctional epidermolysis bullosa (JEB). Allelic heterogeneity is observed in patients with JEB: mutations that results in premature stop codons produce a more severe phenotype than do missense mutations. Gene therapy approaches are currently being studied in the treatment of this disease. A blistering phenotype is also observed in patients with acquired cicatricial pemphigoid (CP). Autoantibodies targeted against laminins 5 and 6 destabilize epithelial adhesion and are pathogenic. In muscle cells, laminin α2 is a component of the bridge that links the actin cytoskeleton to the extracellular matrix. In patients with laminin α2 mutations, the bridge is disrupted and mature muscle cells apoptose. Congenital muscular dystrophy (CMD) results. The role of laminin in diseases of the nervous system is less well defined, but the extracellular protein has been shown to serve an important role in peripheral nerve regeneration. The adhesive molecule influences neurite outgrowth, neural differentiation, and synapse formation. The broad spatial distribution of laminin gene products suggests that laminin may be involved in a number of diseases for which pathogenic mechanisms are still being unraveled. Microsc. Res. Tech. 51:262–279, 2000. © 2000 Wiley‐Liss, Inc.

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Junctional Epidermolysis Bullosa: A Clinical Overview

Cited by 7 publications

References 81 publications

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Occam's Razor Versus Hickam's Dictum: A Case Report of Junctional Epidermolysis Bullosa and Lower Urinary Tract Infection

Esophageal Strictures in Children with Recessive Dystrophic Epidermolysis Bullosa: Experience of Balloon Dilatation in Nine Cases

Laminins and human disease

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