Results 51 to 60 of about 1,774 (212)

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

Dystrophic Epidermolysis Bullosa Inversa – Case Report and Review of the Literature [PDF]

, 2022
Dystrophic epidermolysis bullosa inversa is a very rare subtype of inherited dystrophic epidermolysis bullosa with a unique clinical manifes- tation. Generalized blistering in the neonatal period and in early infancy im- proves with age, with lesions ...
Dolenc-Voljč, Mateja, Luzar, Boštjan, Merzel Šabović, Eva Klara, Wechtersbach, Karmen   +3 more
core   +1 more source

Surgical management of squamous cell carcinoma arising in patients affected by epidermolysis bullosa: a comparative study

, 2020
International Wound Journal, Volume 17, Issue 2, Page 519-521, April 2020.
Alessia Paganelli, Camilla Reggiani, Chiara Fiorentini, Mario Lando, Anna M. Cesinaro, Cristina Magnoni   +5 more
wiley   +1 more source

Nevo da epidermólise bolhosa: aspectos clínicos, dermatoscópicos e histológicos em um caso de portador da forma distrófica recessiva Epidermolysis bullosa nevi: clinical, dermatoscopical and histological features in a case of recessive dystrofic form

Anais Brasileiros de Dermatologia, 2011
As lesões melanocíticas adquiridas podem apresentar aspecto clínico não-usual em pacientes portadores de epidermólise bolhosa hereditária. Essas lesões são conhecidas como "nevos EB" e, muitas vezes, constituem um desafio diagnóstico ao dermatologista ...
Juliana Nakano de Melo, Priscila Yoshie Teruya, Maria Cecília Rivitti Machado, Neusa Sakai Valente, Mirian Nacagami Sotto, Zilda Najjar Prado de Oliveira   +5 more
doaj   +1 more source

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

American Journal of Medical Genetics Part A, Volume 179, Issue 10, Page 1913-1981, October 2019., 2019
Abstract Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers.
Muriel de La Dure‐Molla, Benjamin Philippe Fournier, Maria Cristina Manzanares, Ana Carolina Acevedo, Raoul C. Hennekam, Lisa Friedlander, Marie‐Laure Boy‐Lefèvre, Stephane Kerner, Steve Toupenay, Pascal Garrec, Brigite Vi‐Fane, Rufino Felizardo, Marie‐Violaine Berteretche, Laurence Jordan, François Ferré, François Clauss, Sophie Jung, Myriam de Chalendar, Sebastien Troester, Marzena Kawczynski, Jessica Chaloyard, International Group of Dental Nomenclature, Marie Cécile Manière, Ariane Berdal, Agnès Bloch‐Zupan   +24 more
wiley   +1 more source

Dystrophic epidermolysis bullosa:novel insights into the genotype-phenotype correlation and somatic mosaicism [PDF]

, 2013
Dystrofische epidermolysis bullosa (DEB) is een erfelijke huidaandoening, veroorzaakt door mutaties in het COL7A1 gen. Bij DEB ontstaan reeds door geringe wrijving blaren van de huid en slijmvliezen.
Akker, Peter Christiaan van den
core   +6 more sources

Hereditary epidermolysis bullosa: clinical-epidemiological profile of 278 patients at a tertiary hospital in São Paulo, Brazil

Anais Brasileiros de Dermatologia
Background Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce.
Chan I. Thien, Vanessa Rolim Bessa, Isadora Zago Miotto, Luciana Paula Samorano, Maria Cecília Rivitti-Machado, Zilda Najjar Prado de Oliveira   +5 more
doaj   +1 more source

Manifestações bucais em portadores de epidermólise bolhosa residentes em um município baiano [PDF]

, 2022
Introdução: A Epidermólise Bolhosa hereditária (EB) é uma doença rara, caracterizada por formações de bolhas na pele e nas mucosas que sofrem mínimos traumas ou aparecem espontaneamente.
de Souza, Monique Gonçalves, Prado, Fabio Ornellas   +1 more
core   +2 more sources

Differentially Expressed Genes Extracted by the Tensor Robust Principal Component Analysis (TRPCA) Method

Complexity, Volume 2019, Issue 1, 2019., 2019
In the big data era, sequencing technology has produced a large number of biological sequencing data. Different views of the cancer genome data provide sufficient complementary information to explore genetic activity. The identification of differentially expressed genes from multiview cancer gene data is of great importance in cancer diagnosis and ...
Yue Hu, Jin-Xing Liu, Ying-Lian Gao, Sheng-Jun Li, Juan Wang, Danilo Comminiello   +5 more
wiley   +1 more source

Light and transmission electron microscopy of generalized dystrophic epidermolysis bullosa (Pasini's albopapuloid subtype) Microscopia óptica e eletrônica de transmissão da epidermólise bolhosa distrófica generalizada (subtipo albo-papulóide de Pasini)

Anais Brasileiros de Dermatologia, 2012
Pasini's albopapuloid epidermolysis bullosa is a very rare subtype of generalized dystrophic dominant epidermolyis bullosa. A 30 year-old white female patient presented since her childhood disseminated small blisters and papules.
Hiram Larangeira de Almeida Jr, Lísia Nudelmann, Nara Moreira Rocha, Luis Antonio Suita de Castro   +3 more
doaj   +1 more source