We are improving our search experience. To check which content you have full access to, or for advanced search, go back to the old search.

Search

Please fill in this field.

Search Results

Showing 41-60 of 2,264 results
  1. Gastrostomy for infants with severe epidermolysis bullosa simplex in neonatal intensive care

    Introduction

    Severe epidermolysis bullosa simplex (EBS sev) is a rare genodermatosis characterized by congenital generalized blistering and mucosal...

    M. Marro, S. De Smet, ... C. Chiaverini in Orphanet Journal of Rare Diseases
    Article Open access 11 June 2021
  2. Review of the Latest Methods of Epidermolysis Bullosa and Other Chronic Wounds Treatment Including BIOOPA Dressing

    Epidermolysis bullosa (EB) is a hereditary genetic skin disorder, classified as a type of genodermatosis, which causes severe, chronic skin blisters...

    Magdalena Nita, Jacek Pliszczyński, ... Piotr Fiedor in Dermatology and Therapy
    Article Open access 15 July 2021
  3. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa

    Background/objective

    Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to...

    Jean Yuh Tang, M. Peter Marinkovich, ... Dan Rudin in Orphanet Journal of Rare Diseases
    Article Open access 13 April 2021
  4. Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines

    This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people...

    Alex King, Humphrey Hanley, ... Julio Tanabe in Orphanet Journal of Rare Diseases
    Article Open access 06 January 2021
  5. Topical ropivacaine for analgesia of aplasia cutis congenita in newborns with hereditary epidermolysis bullosa

    Aplasia cutis congenita (ACC) in patients with hereditary epidermolysis bullosa (EB) is often associated with major pain. We report our experience...

    A. Chambelland, C. Devos, ... C. Chiaverini in Orphanet Journal of Rare Diseases
    Article Open access 01 December 2020
  6. Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

    Background

    Epidermolysis bullosa (EB) is a heterogeneous group of hereditary skin diseases characterized by skin fragility. Primary data on Taiwanese...

    Wei-Ting Tu, **-Chen Hou, ... Chao-Kai Hsu in Orphanet Journal of Rare Diseases
    Article Open access 28 December 2022
  7. Small molecule drug development for rare genodermatoses – evaluation of the current status in epidermolysis bullosa

    Background

    Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes...

    Verena Wally, Manuela Reisenberger, ... Martin Laimer in Orphanet Journal of Rare Diseases
    Article Open access 19 October 2020
  8. Beremagene Geperpavec: First Approval

    Beremagene geperpavec-svdt (VYJUVEK™) is a topically applied, redosable, live, replication defective herpes simplex virus-1 (HSV-1) vector -based...

    Sohita Dhillon in Drugs
    Article 11 July 2023
  9. Release of pseudosyndactyly in recessive dystrophic epidermolysis bullosa using a dermal regeneration template glove: the Foggia experience

    Background

    Epidermolysis bullosa (EB) comprises a heterogeneous group of rare genetic diseases associated with skin blistering caused by minimal...

    Fedele Lembo, Domenico Parisi, ... Aurelio Portincasa in Orphanet Journal of Rare Diseases
    Article Open access 28 January 2021
  10. Impact of low-dose calcipotriol ointment on wound healing, pruritus and pain in patients with dystrophic epidermolysis bullosa: A randomized, double-blind, placebo-controlled trial

    Background

    Wound management is a critical factor when treating patients with the inherited skin fragility disease dystrophic epidermolysis bullosa...

    Christina Guttmann-Gruber, Josefina Piñón Hofbauer, ... Martin Laimer in Orphanet Journal of Rare Diseases
    Article Open access 08 November 2021
  11. Identification of a Novel COL17A1 Compound Heterozygous Mutation in a Chinese Girl with Non-Herlitz Junctional Epidermolysis Bullosa

    Non-Herlitz junctional epidermolysis bullosa (JEB-nH), an autosomal recessive bullous genodermatosis, is characterized by generalized skin blistering...

    Yan-yi Yao, Yong Zhang, ... Min Zhou in Current Medical Science
    Article 29 August 2020
  12. The challenges of living with and managing epidermolysis bullosa: insights from patients and caregivers

    Background

    Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges...

    Anna L. Bruckner, Michael Losow, ... Dedee F. Murrell in Orphanet Journal of Rare Diseases
    Article Open access 03 January 2020
  13. Epidermolysis bullosa hereditaria

    Inherited Epidermolysis bullosa (EB) encompasses a group of heritable skin disorders characterized by skin fragility and mechanically induced blister...

    Cristina Has, Judith Fischer in medizinische genetik
    Article Open access 21 November 2019
  14. Quality of life in people with epidermolysis bullosa: a systematic review

    Purpose

    Individuals with epidermolysis bullosa (EB) present with various clinical manifestations of different severities that affect quality of life...

    C. C. G. Togo, A. P. C. Zidorio, ... E. S. Dutra in Quality of Life Research
    Article 03 April 2020
  15. Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

    Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of...

    Jemima E. Mellerio, Maya El Hachem, ... Christine Bodemer in Orphanet Journal of Rare Diseases
    Article Open access 06 June 2020
  16. Wound closure in epidermolysis bullosa: data from the vehicle arm of the phase 3 ESSENCE Study

    Background

    Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure...

    Dedee F. Murrell, Amy S. Paller, ... Allen Reha in Orphanet Journal of Rare Diseases
    Article Open access 21 July 2020
Did you find what you were looking for? Share feedback.