Autoimmune blistering diseases, including epidermolysis bullosa, in children have a better prognosis than in adults, but long-term follow-up is necessary for adequate management due to frequent late relapses, a study suggests. The study, “Long-term evolving profile of childhood autoimmune blistering diseases. Retrospective study on 38 children,”…
The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have already registered to attend the World Orphan Drug Congress (WODC) USA 2019, set to take place at the Gaylord National Harbor…
The care and management of a 6-month-old baby with epidermolysis bullosa (EB) simplex during surgery for a corneal transplant was described for the first time in a recent case report. The study, “Anaesthetic management of a rare case of paediatric epidermolysis bullosa,” was published in the Indian Journal…
About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The March 4-5 meeting, to take place at the Hilton Am Stadtpark Vienna, features 27 speakers on a variety of disorders…
In the absence of collagen 7, the protein missing in recessive dystrophic epidermolysis bullosa (RDEB) patients, the protein thrombospondin-1 (TSP1) plays a key role in the development of fibrosis, or scarred tissue. This newly discovered mechanism suggests TSP1 as a potential therapeutic target for RDEB patients. The study, “Thrombospondin-1 is a major…
A specific class of T cells – called Th17 cells — may drive inflammation in patients with epidermolysis bullosa simplex (EBS) generalized severe, and targeting these inflammatory pathways might lessen blistering in these patients. The study, “Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and…
Scores of events are afoot worldwide to mark Feb. 28, Rare Disease Day 2019. The activities aim to raise awareness about rare diseases and the millions of people — estimates run as high as 350 million — they are thought to impact. Across countries, patients, caregivers and advocates will paint faces, wear…
The case report of a patient with epidermolysis bullosa acquisita who developed steroid-induced diabetes underscores the importance of counseling patients about possible medication side effects and ensuring close follow-up during treatment. The study, “Steroid-induced Diabetes Complicating Treatment of Epidermolysis Bullosa Acquisita: A Preventable Treatment Complication Stresses the Importance…
Oral use of cannabinoids — derivatives of cannabis — could help manage pain and the urge to scratch in epidermolysis bullosa (EB) patients, according to a study that evaluated three case reports. The study, “Combined tetrahydrocannabinol and cannabidiol to treat pain in epidermolysis bullosa: a report of three…
Next-generation sequencing — a technique that reads DNA sequences much faster and cheaper than standard approaches — successfully identified a novel mutation in the LAMB3 gene in a newborn with junctional epidermolysis bullosa (EB), a case study reports. The study, “Targeted next-generation sequencing identifies a novel mutation of LAMB3 in…
A provisional diagnosis based on clinical information is more accurate than imaging of skin biopsies in newborns and infants with inherited epidermolysis bullosa (EB), according to a new study. The research, “A retrospective cohort study evaluating the accuracy of clinical diagnosis compared to immunofluorescence and electron…
The case report of a patient with severe epidermolysis bullosa underscores the importance of a multidisciplinary approach involving skin protection, care of the wounds, nutritional support, and medical intervention. The study, “A case of a patient with severe epidermolysis bullosa surviving to adulthood,” was published in the …
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