Literature DB >> 19945618

Non-herlitz junctional epidermolysis bullosa.

Kim B Yancey1, Helmut Hintner.   

Abstract

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 hyperpigmentation at sites of healed blisters as well as incomplete alopecia, dystrophic nails, mucous membrane involvement, and dental abnormalities. Mild (or severe) disease early in life may be characterized by the opposite phenotype in adults with nH JEB. Although nH JEB is generally less severe than Herlitz disease, fatalities (especially in neonates) are not uncommon among patients with the former diagnosis.

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Year:  2010        PMID: 19945618     DOI: 10.1016/j.det.2009.10.008

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  5 in total

1.  Missing the target: characterization of bullous pemphigoid patients who are negative using the BP180 enzyme-linked immunosorbant assay.

Authors:  Janet A Fairley; Matthew Bream; Colleen Fullenkamp; Sergei Syrbu; Mei Chen; Kelly N Messingham
Journal:  J Am Acad Dermatol       Date:  2012-10-18       Impact factor: 11.527

2.  The anatomical distribution of genetic associations.

Authors:  Alan Wells; Nathan Kopp; Xiaoxiao Xu; David R O'Brien; Wei Yang; Arye Nehorai; Tracy L Adair-Kirk; Raphael Kopan; J D Dougherty
Journal:  Nucleic Acids Res       Date:  2015-11-19       Impact factor: 16.971

Review 3.  Toward Combined Cell and Gene Therapy for Genodermatoses.

Authors:  Laura De Rosa; Maria Carmela Latella; Alessia Secone Seconetti; Cecilia Cattelani; Johann W Bauer; Sergio Bondanza; Michele De Luca
Journal:  Cold Spring Harb Perspect Biol       Date:  2020-05-01       Impact factor: 10.005

4.  Keratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice.

Authors:  Tracy L Adair-Kirk; Gail L Griffin; Michelle J Meyer; Diane G Kelley; Jeffrey H Miner; Douglas R Keene; M Peter Marinkovich; J Michael Ruppert; Jouni Uitto; Robert M Senior
Journal:  PLoS One       Date:  2012-09-18       Impact factor: 3.240

5.  Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report.

Authors:  Wei Wang; Qiang Guo; Jinshan Chen; Xi Zhang; Chengyong Li; Shuangping Li; Jialin Liang; Chuan Hao; Jingqi Wang
Journal:  Front Genet       Date:  2022-09-30       Impact factor: 4.772

  5 in total

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