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).

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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

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article

Fragile skin may benefit from decoration

Tero A.H. Järvinen, Yanling Liao
Molecular Therapy Advances
Hair Growth and Disorders
article

Fragile skin may benefit from decoration

Tero A.H. Järvinen, Yanling Liao
article en

Abstract

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).

Molecular Therapy AdvancesVol. 34(3)
New York Medical College (US), Tampere University Hospital (FI), Tampere University (FI)
Jane ja Aatos Erkon Säätiö, Sigrid Juséliuksen Säätiö, Pirkanmaan Sairaanhoitopiiri
Openalex Percentile: Top 7%
Hair Growth and Disorders
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