Thematic groups EB – Documents – Grand public – ERN Skin

Thematic groups EB – Documents – Grand publicMarie Guillou2024-01-15T10:57:48+01:00

Inherited Epidermolysis Bullosa and skin fragility syndromes – Darier disease – Hailey-Hailey disease

Thematic group documents

Dashboard

Topic	Document	Draft/Final	Responsible	Uploaded Date
Clinical OutCome Measures
Diagnosis
Emergency cards	Czech version – University Hospital Brno, EB Centrum CR Dutch version – University Medical Centre Groningen Dutch version – University Hospital Leuven English version – Guy’s and St Thomas’ NHS Foundation Trust English version – Birmingham Children’s Hospital NHS Foundation Trust French version – University Hospital Leuven German version – EBHaus Austria German version – Universitätsklinikum Freiburg Italian version – Pediatric hospital Bambino Gesù, Rome Italian version – IRCCS IDI foundation Luigi Maria Monti, Rome Italian version – Foundation IRCCS CA’Granda Ospedale Maggiore polyclinic, Milan Italian version – AOU, Bologna	Final Final Final Final Final Final Final Final Final Final Final Final		2020 2020 2020 2020 2020 2020 2020 2020 2020 2020 2020 2020
Guidelines & Recommendations	Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers – in ENGLISH Management of children with Epidermolysis Bullosa: Therapeutic education for parents and carers – in ITALIAN Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa Psychosocial Guidance for social and healthcare professionals/ epidermolysis bullosa (EB) teams Occupational therapy for epidermolysis bullosa: clinical practice guidelines Preventative nutritional care guideline Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines Foot care in epidermolysis bullosa: evidence-based guideline Skin and wound care in epidermolysis bullosa Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines Pain care for patients with epidermolysis bullosa: best care practice guidelines Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa Oral Health Care for Patients with Epidermolysis Bullosa – Best Clinical Practice Guidelines	Final Final Final Final Final Final Final Final Final Final Final Final Final Final		2022 2022 2020 2019 2019 2019 2019 2019 2018 2017 2015 2014 2014 2012
Patient documents	Debra international – EB patient guides and infographics	Final
Research	QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study Initial validation of the epidermolysis bullosa-specific module of the Infants and Toddlers Dermatology Quality of Life questionnaire Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-Consensus: Recommendations by an international panel of experts STAT3 targeting in dystrophic epidermolysis bullosa EGFR inhibition for metastasized cutaneous squamous cell carcinoma in dystrophic epidermolysis bullosa Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 “knock-out” Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa Mechanism of Oleogel-S10: A triterpene preparation for the treatment of epidermolysis bullosa Oleogel-S10 Phase 3 study “EASE” for epidermolysis bullosa: study design and rationale Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases Decorin counteracts disease progression in mice with recessive dystrophic epidermolysis bullosa Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy Epidermolysis bullosa House Austria and Epidermolysis bullosa clinical network : Example of a centre of expertise implemented in a European reference network to face the burden of a rare disease Currently recruiting clinical therapy trials for Epidermolysis Bullosa (October 2020) ERN-Skin clinical research update for Epidermolysis Bullosa (October 2020)	Final Final Final Final Final Final Final Final Final Final Final Final Final Final Final Final Final Final Final		2020 2020 2020 2020 2019 2019 2019 2019 2019 2019 2019 2019 2019 2018 2018 2018 2016 2020 2020
Training	Hand mobility exercises for children suffering from epidermolysis bullosa Training on specific hand care for patients with epidermolysis bullosa Epidermolysis bullosa and breastfeeding Epidermolysis bullosa and oral hygiene	Final Final Final Final		2018 2018 2020 2020

Folders

Clinical OutCome Measures

Diagnosis

Emergency cards

Guidelines & Recommendations

Patient documents

Research

Training