Recessive dystrophic epidermolysis bullosa
MONDO:0009179Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
Also known as: EBD inversa, RDEB generalisata gravis, RDEB, Hallopeau-Siemens type, RDEB-sev gen, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, autosomal recessive, modifier of
24 clinical trials for this condition and its sub-types.
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CBD oil may soothe itch in kids with rare skin disease
Symptom relief CompletedThis study tested whether cannabidiol (CBD) can reduce severe itching in 10 children with a rare genetic skin condition called epidermolysis bullosa. The children took CBD syrup three times a day for a month. Researchers measured itch, pain, sleep, and quality of life before and …
Phase: PHASE2 • Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Symptom relief
Last updated Jun 27, 2026 09:10 UTC
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Portable skin dressing shows promise for rare blistering disease
Symptom relief CompletedThis pilot study tested a portable device called Spincare that sprays a nanofiber dressing onto wounds in people with recessive dystrophic epidermolysis bullosa (RDEB), a rare genetic condition causing fragile, blistering skin. Six participants with at least six chronic or recurr…
Phase: NA • Sponsor: Stanford University • Aim: Symptom relief
Last updated Jun 26, 2026 17:09 UTC
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Scientists investigate why skin fails to heal in rare blistering disease
Knowledge-focused CompletedThis study looked at how skin cells from 30 people with recessive dystrophic epidermolysis bullosa (RDEB) grow and repair wounds. RDEB is a rare genetic condition that causes fragile skin and painful blisters. Researchers took small skin samples to study the cells in a lab, aimin…
Sponsor: Institut National de la Santé Et de la Recherche Médicale, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:09 UTC
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AI could cut skin specialist wait times, study hints
Knowledge-focused CompletedThis study tested an artificial intelligence algorithm designed to help primary care doctors decide whether a patient with a skin condition really needs to see a dermatologist. Researchers enrolled 200 adults with skin problems and had their doctors take photos of the affected ar…
Sponsor: AI Labs Group S.L • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC