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Showing 1-20 of 2,264 results
  1. “Quality of Life in Epidermolysis Bullosa” and “Epidermolysis Bullosa Burden of Disease”: Italian translation, cultural adaptation, and pilot testing of two disease-specific questionnaires

    Background

    Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of skin fragility disorders characterized by...

    May El Hachem, Andrea Diociaiuti, ... Damiano Abeni in Italian Journal of Pediatrics
    Article Open access 19 April 2024
  2. Totally endoscopic concomitant aortic and mitral valve surgery in junctional epidermolysis bullosa: a case report

    Background

    Junctional epidermolysis bullosa is a rare skin and mucosal disorder characterized by blister formation in response to minor trauma and...

    Kazufumi Yoshida, Soshi Yoshida, ... Tadaaki Koyama in Journal of Cardiothoracic Surgery
    Article Open access 20 February 2024
  3. Birch Bark Extract: A Review in Epidermolysis Bullosa

    Birch bark extract (Filsuvez ® ; also known as the developmental name Oleogel-S10), a topical gel consisting of 10% dry birch bark extract and 90%...

    Young-A Heo in Drugs
    Article 02 September 2023
  4. Eye Involvement and Management in Inherited Epidermolysis Bullosa

    Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the formation of blisters,...

    Yasmine Bachir, Alejandra Daruich, ... Dominique Bremond-Gignac in Drugs
    Article 01 August 2022
  5. Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature

    Epidermolysis

    Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal...

    Fatma Mabrouk Ali, Jieyu Zhou, ... Hongyan Lu in BMC Pediatrics
    Article Open access 05 April 2024
  6. Neue Lokal- und Systemtherapien bei Epidermolysis bullosa

    Epidermolysis bullosa (EB) refers to a rare, heterogeneous group of genodermatoses characterized by increased skin and mucosal fragility. Advances in...

    Christine Prodinger, Martin Laimer in hautnah
    Article Open access 01 February 2024
  7. Severe hyponatremia in an infant with epidermolysis bullosa: a case report

    Background

    Epidermolysis bullosa is a rare inherited connective tissue disorder compromising cellular junctions. Blister formation is the first...

    Soheil Dehghani, Boshra Akbarzadeh Pasha, ... Azadeh Afshin in Journal of Medical Case Reports
    Article Open access 07 October 2022
  8. Anästhesiologische Aspekte bei Patienten mit Epidermolysis bullosa

    Epidermolysis bullosa causes blistering due to altered structural proteins of the dermoepidermal junction, resulting in scarring and strictures of...

    B. Ziegler, S. Ofner, ... F. Treff in Die Anaesthesiologie
    Article Open access 17 February 2022
  9. Clinical characteristics, healthcare use, and annual costs among patients with dystrophic epidermolysis bullosa

    Background

    Dystrophic epidermolysis bullosa (DEB) is a serious, ultra-rare, genetic blistering disease that requires a multidisciplinary care team and...

    James A. Feinstein, Anna L. Bruckner, ... Juan Roman in Orphanet Journal of Rare Diseases
    Article Open access 29 September 2022
  10. Epidermolysis bullosa

    Jorge Frank in hautnah dermatologie
    Article 20 February 2023
  11. Oleogel-S10 in Dystrophic Epidermolysis Bullosa: A Case Series Evaluating the Impact on Wound Burden Over Two Years

    Epidermolysis bullosa (EB) is a group of rare, difficult-to-treat, inherited multisystem diseases affecting epithelial integrity. Impaired wound...

    Mauricio Torres Pradilla, Erick Álvarez, ... Maribel Trujillo in Advances in Therapy
    Article Open access 03 January 2024
  12. Facing the complex challenges of people with epidermolysis bullosa in Austria: a mixed methods study on burdens and helpful practices

    Background

    With approximately 500 people affected in Austria, epidermolysis bullosa (EB) is a rare genetic skin disease reducing the quality of life...

    Gudrun Salamon, Ursula Field-Werners, ... Anja Diem in Orphanet Journal of Rare Diseases
    Article Open access 21 May 2024
  13. Consensus-based guidelines for the provision of palliative and end-of-life care for people living with epidermolysis bullosa

    Background

    Inherited epidermolysis bullosa (EB) is a cluster of rare, genetic skin and mucosal fragility disorders with multi-system and secondary...

    Mark P. Popenhagen, Paola Genovese, ... Kattya Mayre-Chilton in Orphanet Journal of Rare Diseases
    Article Open access 04 September 2023
  14. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study

    Background

    Itch is common and distressing in epidermolysis bullosa (EB) but has not previously been studied in depth in different recessive dystrophic...

    Jemima E. Mellerio, Elizabeth I. Pillay, ... Eunice Jeffs in Orphanet Journal of Rare Diseases
    Article Open access 09 August 2023
  15. Consensus guidelines for diagnosis and management of anemia in epidermolysis bullosa

    Background

    Anemia is a common complication of severe forms of epidermolysis bullosa (EB). To date, there are no guidelines outlining best clinical...

    Carmen Liy-Wong, Cristina Tarango, ... Irene Lara-Corrales in Orphanet Journal of Rare Diseases
    Article Open access 23 February 2023
  16. Care of the Patient with Epidermolysis Bullosa

    Purpose of Review

    This review highlights advances in care of patients with severe epidermolysis bullosa (EB) that impact the anesthesiologist. Topics...

    Louise Kimiko Furukawa, Olga Nella Wolke in Current Anesthesiology Reports
    Article 04 January 2022
  17. A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa

    Background

    Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons...

    Bo Liang, Dedi Meng, ... Hequn Huang in European Journal of Dermatology
    Article 01 September 2022
  18. Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa

    What is already known about this topic?

    Epidermolysis bullosa (EB) causes blistering and scarring of the hands resulting in contractures fused web...

    Rachel Box, Catina Bernardis, ... Roger Cornwall in Orphanet Journal of Rare Diseases
    Article Open access 07 November 2022
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