Inherited epidermolysis bullosa

JD Fine - Orphanet journal of rare diseases, 2010 - Springer
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by
recurrent blister formation as the result of structural fragility within the skin and selected other …

Progress in epidermolysis bullosa: genetic classification and clinical implications

J Uitto, G Richard - American Journal of Medical Genetics Part …, 2004 - Wiley Online Library
Epidermolysis bullosa (EB), a heterogenous group of genodermatoses, is characterized by
fragility and blistering of the skin associated with extracutaneous manifestations. Based on …

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival.

J Dowling, QC Yu, E Fuchs - The Journal of cell biology, 1996 - rupress.org
The integrin heterodimer alpha 6 beta 4 is expressed in many epithelia and in Schwann
cells. In stratified epithelia, alpha 6 beta 4 couple with BPAG1-e and BPAG2 to form …

Inherited epidermolysis bullosa: past, present, and future

JD Fine - Annals of the New York Academy of Sciences, 2010 - Wiley Online Library
Inherited epidermolysis bullosa encompasses dozens of diseases characterized by
mechanical fragility of the skin, blister formation, and abnormal wound healing. Most of the …

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification

J Uitto, G Richard - Clinics in dermatology, 2005 - Elsevier
Epidermolysis bullosa, a clinically and genetically diverse group of heritable
mechanobullous disorders characterized by skin fragility in the cutaneous basement …

Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases

JA McGrath, OMV Schofield, BJ Mayou… - Journal of cutaneous …, 1992 - Wiley Online Library
Epidermolysis bullosa (KB) refers to a group of hereditary mechano‐bullous conditions,
many of which arc associated with chronic scarring. Several forms of (he disease have been …

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

H Fassihi, RAJ Eady, JE Mellerio… - British Journal of …, 2006 - academic.oup.com
Background Over the last 25 years there have been major advances in methods for prenatal
testing of inherited skin disorders. Since 1979, our group at the St John's Institute of …

A comparative study between transmission electron microscopy and immunofluorescence mapping in the diagnosis of epidermolysis bullosa

E Yiasemides, J Walton, P Marr… - The American journal of …, 2006 - journals.lww.com
The classification of epidermolysis bullosa (EB) into 3 main subtypes has been based on
transmission electron microscopy (TEM) that is able to directly visualize and quantify specific …

Bone mineralization in children with epidermolysis bullosa

MS Fewtrell, J Allgrove, I Gordon, C Brain… - British Journal of …, 2006 - academic.oup.com
Background Various factors may have deleterious effects on bone health in patients with
epidermolysis bullosa (EB). Objectives In a retrospective notes review, to assess bone …

Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands

WY Yuen, HH Lemmink, KK van Dijk‐Bos… - British Journal of …, 2011 - academic.oup.com
Background Junctional epidermolysis bullosa, type Herlitz (JEB‐H) is a lethal, autosomal
recessive blistering disease caused by null mutations in the genes coding for the lamina …