Results 71 to 80 of about 27,311 (150)

EPIDERMOLYSIS BULLOSA HEREDITARIA: A DERMATOLOGIST‘S PERSPECTIVE AND NEWLY TREATMENT APPROACHES

Slovenska pediatrija
Epidermolysis bullosa is a genetically inherited disorder characterized by extreme skin fragility. Mutations in at least 20 different genes have been identified, leading to structural or functional abnormalities or the absence of proteins involved in the
Olga Točkova
doaj   +1 more source

Preimplantation Genetic Diagnosis for DEB by Detecting a Novel Family-Specific COL7A1 Mutation in Vietnam

The Application of Clinical Genetics, 2021
Sang Trieutien,1,* Tam Vu Van,2,3,* My Tran Ngoc Thao,4 Son Trinh The,5 Khoa Tran Van,1 Tung Nguyen Thanh,5 Tuan Tran Van,5 Hanh Nguyen Thi6 1Department of Biology and Genetics, Vietnam Military Medical University, Hanoi, 12108, Vietnam ...
Trieutien S, Vu Van T, Tran Ngoc Thao M, Trinh The S, Tran Van K, Nguyen Thanh T, Tran Van T, Nguyen Thi H   +7 more
doaj  

Challenges of the differential diagnosis between the subtypes of the junctional epidermolysis bullosa: presentation of two clinical cases

Alʹmanah Kliničeskoj Mediciny, 2019
Background: Epidermolysis bullosa (EB) is a rare hereditary skin disease. It is subdivided into EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. JEB is diagnosed in 2 per 1,000,000 of the population.
Yu. Yu. Kotalevskaya, N. M. Marycheva
doaj   +1 more source

Epidermolysis Bullosa Classification and Current Approach to Diagnosis

Pediatric Dermatology, Volume 43, Issue S2, Page 5-15, August 2026.
ABSTRACT Epidermolysis bullosa (EB) is a heterogeneous group of rare genodermatoses marked by skin fragility and bullae formation induced by minor trauma. Pathologic variants in at least 21 genes are associated with EB, grouped into four major subtypes based predominantly on the plane of cleavage within the skin.
Hannah E. Mumber, Marissa J. Perman
wiley   +1 more source

Complete Paternal Uniparental Isodisomy of Chromosome 1: A Novel Mechanism for Herlitz Junctional Epidermolysis Bullosa [PDF]

, 2000
Uniparental disomy denotes a situation when an individual has inherited two copies of a specific chromosome from a single parent. Uniparental disomy has been demonstrated to be involved in the pathogenesis of recessively inherited diseases in rare cases.
Nakajima, Hiromichi, Takizawa, Yasuko, Nakano, Yasushi, Uitto, Jouni, Chao, Sheau-Chiou, Pulkkinen, Leena, Shimizu, Hiroshi   +6 more
core   +1 more source

Occurrence of epidermolysis bullosa along with Amelogenesis imperfecta in female patient of India

Dental Research Journal, 2013
Epidermolysis bullosa (EB) is an inherited disorder, which is characteristically presented as skin blisters developing in response to minor injury. Junctional variety of EB is also associated with enamel hypoplasia.
A P Javed, Prashanth Shenai, Laxmikanth Chatra, K M Veena, Prasanna Kumar Rao, Rachana Prabhu   +5 more
doaj   +1 more source

Congenital Pyloric Atresia with Junctional Epidermolysis Bullosa: a Case Report

, 1997
The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant as an autosomal recessive trait. We report a newborn girl with pyloric atresia and epidermolysis bullosa.
한석주
core   +1 more source

Expression of Integrin α6β4 in Junctional Epidermolysis Bullosa [PDF]

, 1992
The integrin α6β4 is a member of the integrin family of adhesion receptors. The integrin α6β4 is preferentially expressed in stratified squamous epithelia, where it is localized in hemidesmosomes. A reduced number of rudimentary he- midesmosomes is often
Heeres, Klaas, HEERES, K, DEJONG, MCJM, de Jong, Marcelus C J M, Heeres, Klaas., JONKMAN, MF, SONNENBERG, A, de Jong, Marcelus C.J.M., Jonkman, Marcel F., Sonnenberg, Arnoud, Sonnenberg, Arnoud., Jonkman, Marcel F   +11 more
core   +2 more sources

Inherited epidermolysis bullosa: Case report of finger localization

Indian Journal of Plastic Surgery, 2012
Inherited epidermolysis bullosa is a rare condition that often present at birth with skin blisters and erosions. They are associated with defective cohesion of the dermis and epidermis. There are 3 principal types: Simple, junctional and dystrophic.
Anne- Aurore Sankale, Ndeye Coulibaly, Lamine Ndiaye, Hugues Tiemdjo   +3 more
doaj   +1 more source

Lethal junctional epidermolysis bullosa in heavy horses in France [PDF]

, 1989
Cinq cas d’épidermolyse huileuse jonctionnelle léthale ( Epitheliogenesis imperfecta ) ont été diagnostiqués au début de l’année 1989 dans deux races de cheval de trait en France. Les études anatomo-cliniques, ultra-structurales et génétiques montrent qu’
Gourreau, J.M., Dupere, A.M., Duperé, A.-M., Gourreau, J.-M., Feillou, C., Morand, M., Alliot, A., Courreau, Jean-François, Courreau, J.F.   +8 more
core   +1 more source