Results 31 to 40 of about 13,589 (213)

Junctional Epidermolysis Bullosa

Journal of the Chinese Medical Association, 2006
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB.
Kao, Chuan-Hong, Chen, Sue-Jen, Hwang, Betau, Yang, An-Hang, Hsu, Chih-Yi, Huang, Cheng-Hung   +5 more
openaire   +2 more sources

Laminin 332 in junctional epidermolysis bullosa [PDF]

Cell Adhesion & Migration, 2013
Laminin 332 is an essential component of the dermal-epidermal junction, a highly specialized basement membrane zone that attaches the epidermis to the dermis and thereby provides skin integrity and resistance to external mechanical forces. Mutations in the LAMA3, LAMB3 and LAMC2 genes that encode the three constituent polypeptide chains, α3, β3 and γ2,
Kiritsi, Dimitra, Has, Cristina, Bruckner-Tuderman, Leena   +2 more
openaire   +3 more sources

Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations

Molecular Therapy, 2020
Generalized severe junctional epidermolysis bullosa (GS-JEB) is an incurable and fatal autosomal recessively inherited blistering skin disease caused by mutations in the LAMA3, LAMB3, or LAMC2 genes.
A. Kwong, J. Cogan, Yingping Hou, R. Antaya, Michelle Hao, Gene H. Kim, Vadim Lincoln, Qiuyang Chen, D. Woodley, Mei Chen   +9 more
semanticscholar   +1 more source

Junctional Epidermolysis Bullosa Associated Laryngeal Stenosis: A Case Report and Review of Literature [PDF]

Iranian Journal of Otorhinolaryngology
Introduction:Introduction: Junctional Epidermolysis Bullosa (JEB) is a rare subtype of the Epidermolysis Bullosa which itself is a rare genetic disorder. While mucosal involvement of pharynx and oesophagus has been reported, laryngeal involvement is rare.
Firyal Balushi, Ziyad Al Harrasi, Maathir Al Farsi, Marwa Al Qurani   +3 more
doaj   +1 more source

Pyloric atresia-Three cases and review of literature

African Journal of Paediatric Surgery, 2014
Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of all intestinal atresias, and its incidence is approximately 1 in 100,000 live births. PA may occur as an isolated condition or associated with other abnormalities, the
Sandesh V Parelkar, Satish P Kapadnis, Beejal V Sanghvi, Prashant B Joshi, Dinesh Mundada, Shishira Shetty, Sanjay N Oak   +6 more
doaj   +1 more source

Epidemiology of Epidermolysis Bullosa in the Antipodes [PDF]

Archives of Dermatology, 2010
To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia.Observational study (cross-sectional and longitudinal).Australian private dermatology practice, inpatient ward, and outpatient clinic.Systematic case finding of patients with EB simplex, junctional EB (JEB)
Kho, Yong Chern, Rhodes, Lesley M., Robertson, Susan J., Su, John, Varigos, George, Robertson, Ian, Hogan, Peter, Orchard, David, Murrell, Dedee F.   +8 more
openaire   +5 more sources

First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

BMC Medical Genomics, 2022
Background Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive ...
Yao Wang, Dong Yu, Wei Wei, Hao Zheng, Ming-Hua Liu, Long Ma, Li-Na Qin, Neng-Zhuang Wang, Jia-Xi Li, Jin-Jiang Wang, Xin-Ling Bi, Hong-Li Yan   +11 more
doaj   +1 more source

Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report

Journal of Plastic and Reconstructive Surgery, 2023
Epidermolysis bullosa is a group of inherited skin fragility disorders with blister formation in the basement membrane zone. Chronic scarring after repeated blistering of the hands causes narrowing of the first web, flexion contractures of the digits ...
Sayaka Nakamura, Susumu Saito, Yoshihiro Ishida, Yo Kaku, Ken Natsuga, Naoki Morimoto   +5 more
doaj  

Nail involvement in patients with epidermolysis bullosa: A systematic review

Skin Health and Disease, 2023
Background Nail changes in patients with congenital epidermolysis bullosa (EB) are caused by abnormalities of the nail matrix and bed secondary to pathogenic alterations of the dermoepidermal junction.
Elena Pastrana‐Arellano, Diana Morales‐Olvera, María T. García‐Romero   +2 more
doaj   +1 more source

Epidermólisis bullosa en España: Estudio observacional de una cohorte de pacientes atendidos en un centro de referencia nacional

Actas Dermo-Sifiliográficas, 2021
Resumen: Antecedentes y objetivo: La epidermólisis bullosa (EB) es un grupo heterogéneo de trastornos hereditarios caracterizado por un aumento de la fragilidad mucocutánea.
R. Maseda Pedrero, L. Quintana Castanedo, I. Pérez Conde, M. Jiménez González, M.J. Escámez Toledano, R. de Lucas Laguna   +5 more
doaj   +1 more source