Fragile skin may benefit from decoration
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe hereditary blistering disorder characterized by fragility of the skin and mucous membranes due to mutations in the COL7A1 gene, which encodes type VII collagen, the principal component of anchoring fibrils1,2 (Figure 1A). Loss or dysfunction of type VII collagen leads to separation at the dermal-epidermal junction, resulting in chronic wounds, scarring, and progressive multisystem complications. RDEB is associated with substantial morbidity, including strictures in esophagus, pseudosyndactyly (fusion of fingers), nutritional impairment, and an exceptionally high lifetime risk of developing aggressive cutaneous squamous cell carcinoma (cSCC)1,2 (Figure 1A).
Authors
- Tero A.H. Järvinen (ORCID: https://orcid.org/0000-0002-4027-1759)
- Yanling Liao (ORCID: https://orcid.org/0000-0002-0195-483X)
Institutions
- New York Medical College (US)
- Tampere University Hospital (FI)
- Tampere University (FI)
Publication Details
- Journal
- Molecular Therapy Advances
- Published
- 2026-08-14
- DOI
- https://doi.org/10.1016/j.omta.2026.201827
- Primary Topic
- Hair Growth and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Jane ja Aatos Erkon Säätiö
- Sigrid Juséliuksen Säätiö
- Pirkanmaan Sairaanhoitopiiri