Results 21 to 30 of about 1,088 (130)

Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa [PDF]

Anais Brasileiros de Dermatologia, 2013
In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss.
Hiram Larangeira de Almeida Jr., Luciane Monteiro, Ricardo Marques e Silva, Nara Moreira Rocha, Hans Scheffer   +4 more
doaj   +1 more source

Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa

Special Care in Dentistry, Volume 40, Issue S1, Page 3-81, November 2020., 2020
ABSTRACT Background Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. Aims To provide (a) a complete review of the oral manifestations in those living with each type of inherited EB, (b) the current best practices for managing oral health care of people living with EB, (c) the current ...
Susanne Krämer, James Lucas, Francisca Gamboa, Miguel Peñarrocha Diago, David Peñarrocha Oltra, Marcelo Guzmán‐Letelier, Sanchit Paul, Gustavo Molina, Lorena Sepúlveda, Ignacio Araya, Rubén Soto, Carolina Arriagada, Anne W Lucky, Jemima E Mellerio, Roger Cornwall, Fatimah Alsayer, Reinhard Schilke, Mark Adam Antal, Fernanda Castrillón, Camila Paredes, Maria Concepción Serrano, Victoria Clark   +21 more
wiley   +1 more source

A REPORT OF TWO CASES OF SQUAMOUS CELL CARCINOMA OF THE HAND IN PATIENTS WITH EPIDERMOLYSIS BULLOSA DYSTROPHICA [PDF]

Basrah Journal of Surgery, 2016
This is a report of two patients (brothers) with unusual generalized skin disorder, a recessive dystrophic epidermolysis bullosa (RDEB) that appeared at childhood, who developed a progressive squamous cell carcinoma (SCC) in their right hands. Later both
Avadis A Muradian
doaj   +1 more source

Genetic Disorders of the Extracellular Matrix

The Anatomical Record, Volume 303, Issue 6, Page 1527-1542, June 2020., 2020
ABSTRACT Mutations in the genes for extracellular matrix (ECM) components cause a wide range of genetic connective tissues disorders throughout the body. The elucidation of mutations and their correlation with pathology has been instrumental in understanding the roles of many ECM components. The pathological consequences of ECM protein mutations depend
Shireen R. Lamandé, John F. Bateman
wiley   +1 more source

Genética Molecular das Epidermólises Bolhosas Molecular Genetics of Epidermolysis Bullosa

Anais Brasileiros de Dermatologia, 2002
O estudo das alterações moleculares das epidermólises bolhosas tem contribuído para que se compreenda melhor essas enfermidades. Na epidermólise bolhosa simples a maioria dos casos está associada com alteração nas citoqueratinas basais 5 (gen KRT5) e 14 (
Hiram Larangeira de Almeida Jr
doaj   +1 more source

Translating the combination of gene therapy and tissue engineering for treating recessive dystrophic epidermolysis bullosa [PDF]

European Cells & Materials, 2018
The combination of gene therapy and tissue engineering is one of the most promising strategies for the treatment of recessive dystrophic epidermolysis bullosa (RDEB).
A Dakiw Piaceski, D Larouche, K Ghani, F Bisson, S Cortez Ghio, S Larochelle, VJ Moulin, M Caruso, L Germain   +8 more
doaj   +1 more source

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

Case Reports in Pediatrics, Volume 2020, Issue 1, 2020., 2020
We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported.
Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor Wo Chiu, Alexander K. C. Leung, Yann-Jinn Lee   +7 more
wiley   +1 more source

EPIDERMOLYSIS BULLOSA PRURIGINOSA, A CASE REPORT AND REVIEW OF THE LITERATURE

Journal of IMAB, 2020
Purpose: Epidermolysis bullosa pruriginosa (EBP) is a rare clinical subtype of inherited Epidermolysis bullosa dystrophica (EBD). It is characterized by severe itching and hypertrophic papules affecting the extensor surfaces of the extremities ...
Ivelina Yordanova, Mariya Binova, Preslav Vasilev, Milen Karaivanov, Dimitar Gospodinov   +4 more
doaj   +1 more source

Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico Recessive dystrophic epidermolysis bullosa mitis: case report

Anais Brasileiros de Dermatologia, 2005
As epidermólises bolhosas são dermatoses bolhosas congênitas que levam à formação de bolhas espontaneamente ou após trauma. São reconhecidos três grupos de da doença, de acordo com o segundo consenso internacional: simples, juncional e distrófica.
Thaiz Gava Rigoni Gürtler, Lucia Martins Diniz, João Basilio de Souza Filho   +2 more
doaj   +1 more source

Epidermólise bolhosa distrófica pruriginosa: relato de caso Epidermolysis bullosa pruriginosa: case report

Anais Brasileiros de Dermatologia, 2005
A epidermólise bolhosa distrófica pruriginosa é doença genética rara cujo padrão de herança ainda não está bem estabelecido na literatura. O defeito genético, que envolve a codificação do colágeno tipo VII, está localizado no braço curto do cromossomo 3,
Márcio José Silva de Souza, Carla Andréa Avelar Pires, Karine Keila de Sousa Vieira, Mario Fernando R. de Miranda, Deborah Aben-Athar Unger   +4 more
doaj   +1 more source