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Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa

Journal of Investigative Dermatology, 2016
Johanna Hammersen, Cristina Has, Nora Naumann-Bartsch   +2 more
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Junctional Epidermolysis Bullosa of the Larynx

Pediatrics, 1987
To the Editor.— The article by Kenna et al (Pediatrics 1986;78:172-174) points out the complication of respiratory compromise secondary to laryngeal involvement in junctional epidermolysis bullosa. Junctional epidermolysis bullosa, a mechanobullous disorder with autosomal recessive inheritance, has been associated with not only skin ...
A, Gonzalez, L, Schachner, M, Miller
openaire   +2 more sources

Cicatricial junctional epidermolysis bullosa

Journal of the American Academy of Dermatology, 1994
cinorna mimicking zoster sine herpete. Arch Dermatol 1986;122: 1357-8. 8. Fetter TR, Bogaev JH, McCuskey B, et al. Carcinomaof the bladder: sites of metastasis. J Urol 1959;81 :746-8. 9. McDonald JH, Heckel NJ, Kretchemer HL. Cutaneous metastases secondary tocarcinoma of the urinarybladder. Arch Derrnatol Syphilol 1950;61 :210-2. 10.
Jonkman, MF, de Jong, MCJM, van der Meer, JB   +2 more
openaire   +3 more sources

Herlitz Junctional Epidermolysis Bullosa

Dermatologic Clinics, 2010
Junctional epidermolysis bullosa type Herlitz (JEB-H) is the autosomal recessively inherited, more severe variant of "lucidolytic" JEB. Characterized by generalized, extensive mucocutaneous blistering at birth and early lethality, this devastating condition is most often caused by homozygous null mutations in the genes LAMA3, LAMB3, or LAMC2, each ...
Martin, Laimer, Christoph M, Lanschuetzer, Anja, Diem, Johann W, Bauer   +3 more
openaire   +2 more sources

Non-Herlitz Junctional Epidermolysis Bullosa

Dermatologic Clinics, 2010
Non-Herlitz junctional epidermolysis bullosa (nH JEB) is characterized by generalized blisters that predominate in sites exposed to friction, trauma, or heat. Whereas infants and children with nH JEB often appear to resemble patients with other forms of EB, adults with this disorder typically display atrophic scars, hypopigmentation, or ...
Kim B, Yancey, Helmut, Hintner
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Eye Involvement in Junctional Epidermolysis Bullosa

Archives of Ophthalmology, 1989
The ocular findings in a group of five patients with the nonlethal form of junctional epidermolysis bullosa are presented. A history of recurrent corneal erosion and the presence of corneal scarring were the most common findings. We discuss the possible mechanisms of the ocular changes and describe how the recent application of monoclonal antibody ...
P J, McDonnell, O M, Schofield, D J, Spalton, R A, Eady   +3 more
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Autosomal dominant junctional epidermolysis bullosa

British Journal of Dermatology, 2009
Epidermolysis bullosa (EB) encompasses a heterogeneous group of inherited skin disorders associated with trauma-induced blistering. The junctional forms of EB (JEB), Herlitz JEB, non-Herlitz JEB and JEB associated with pyloric atresia have all been attributed to autosomal recessive inheritance. We describe a 7-year-old girl with defective dental enamel,
Almaani, N., Liu, L., Dopping-Hepenstal, P. J. C., Lovell, P. A., Lai-Cheong, J. E., Graham, R. M., Mellerio, J. E., McGrath, J. A.   +7 more
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Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

Oral Diseases
Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the
Colomba Besa-Witto, A. Ortega-Pinto, S. Véliz, Marco Cornejo, I. Fuentes, F. Palisson, S. Krämer   +6 more
semanticscholar   +1 more source

Junctional epidermolysis bullosa: a case report

International Journal of Paediatric Dentistry, 2005
Summary.Epidermolysis bullosa (EB) is a group of genetically determined disorders characterized by blistering of the skin and mucosae. There are three major forms – simple, junctional and dystrophic – and each has several varieties. The present case report describes a male child with junctional EB.
A, Momeni, K, Pieper
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Alterations in the microenvironment of junctional epidermolysis bullosa keratinocytes: a gene expression study.

Matrix Biology
Integrin α6β4 subunits and type XVII collagen are critical transmembrane proteins involved in cell-matrix adhesion in skin, while laminin 332 serves as their ligand in the basement membrane zone (BMZ).
Yao Wang, M. Hess, Yan Tan, Philipp R Esser, Alexander Nyström, Melanie Boerries, Saliha Beyza Sayar, C. Has   +7 more
semanticscholar   +1 more source