Results 141 to 150 of about 36,363 (277)

Bone marrow transplant for recessive dystrophic epidermolysis bullosa

Pediatric Hematology Oncology Journal, 2019
Recessive dystrophic epidermolysis bullosa is an incurable, often fatal mucocutaneous blistering disease. A 2yr -old girl, presented with generalized bullous lesions since birth.
Vipin Khandelwal, Dharma Choudhary, Sanjeev Kumar Sharma, Divya Doval   +3 more
doaj   +1 more source

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

Science Translational Medicine, 2018
Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis. Mutational signature sleuthing Individuals with the inherited skin disease recessive dystrophic epidermolysis bullosa (RDEB)
R. Cho, Ludmil B. Alexandrov, Nicoline Y. den Breems, V. Atanasova, M. Farshchian, E. Purdom, T. Nguyen, C. Coarfa, K. Rajapakshe, M. Prisco, Joya Sahu, P. Tassone, Evan J. Greenawalt, E. Collisson, Wei Wu, Hui Yao, X. Su, C. Guttmann-Gruber, J. P. Hofbauer, Raabia Hashmi, I. Fuentes, S. Benz, J. Golovato, E. Ehli, Christel M. Davis, G. Davies, K. Covington, D. Murrell, J. Salas-Alanis, F. Palisson, A. Bruckner, W. Robinson, C. Has, L. Bruckner-Tuderman, M. Titeux, M. Jonkman, E. Rashidghamat, S. Lwin, J. Mellerio, J. McGrath, J. Bauer, A. Hovnanian, K. Tsai, A. South   +43 more
semanticscholar   +1 more source

A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage [PDF]

, 2019
Porphyria cutanea tarda (PCT) is the most common type of porphyria, presenting in middle-aged patients with a photodistributed vesiculobullous eruption, milia, and scars.
Brinster, NK, Chen, L, Lederhandler, M, Meehan, SA, Neimann, A   +4 more
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Örökletes és immunológiai bőrgyógyászati kórképek epidemiológiai és molekuláris genetikai vizsgálata = Epidemiological and molecular genetic study of the inherited and immunodermatological diseases [PDF]

, 2009
Örökletes bőrgyógyászati megbetegedések: A genetikai hátterű bőrgyógyászati betegségek között kiemelt jelentőségű az epidermolysis bullosa (EB) csoport.
Medvecz, Márta
core  

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

The modern features of the clinics, diagnostics and treatment of patients with epidermolysis bullosa

Лечащий Врач, 2021
The article presents information on epidermolysis bullosa, a rare genetic skin disease caused by mutations of several genes responsible for the synthesis of structural proteins of the skin.
L. A. Yusupovа, E. I. Yunusovа, Z. Sh. Garaeva, G. I. Mavlyutova, M. A. Morozova   +4 more
doaj  

Epidermólisis bullosa: cuidados de Enfermería [PDF]

, 2017
La Epidermólisis Bullosa, aun tratándose de una enfermedad de poca incidencia (enfermedad rara), supone un problema de salud con importantes repercusiones para el paciente y su familia, que deben conocerse y ser tratados adecuadamente por los ...
Asensio Mucientes, Lucía
core  

Pioneers in Dermatology and Venereology: An interview with Professor Eli Sprecher

Journal of the European Academy of Dermatology and Venereology, Volume 40, Issue 5, Page 732-735, May 2026.
Eli Sprecher
wiley   +1 more source

Wound nursing management of children with congenital epidermolysis bullosa

Huli yanjiu, 2016
It reviewed the research status quo of wound care of children with congenital epidermolysis bullosa(EB),based on epidermolysis bullosa“wound bed preparation”（WBP）from the wound management steps including the effective cleaning of the wound,the ...
任平, 陈劼, 张玉侠
doaj  

پیوند سلول‌های فیبروبلاست کشت داده شده روی پرده آمنیون جهت درمان دفورمیتی دست در بیماران اپیدرمولیزیس بولوزا [PDF]

, 2012
زمینه و هدف: اپیدرمولیزیس بولزا یک بیماری ژنتیکی است که دارای سه نوع می‌باشد؛ سیمپلکس، دیستروفیک و جانکشنال. این بیماری با جداشدگی آسان اپیدرم از درم مشخص می‌گردد.
ابراهیمی, محمد, اقدمی, ناصر, سید فروتن, نازیلا سادات, سید فروتن, کمال, عروجی, زهرا   +4 more
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