New Hope for Patients with Recessive Dystrophic Epidermolysis Bullosa

Injection of healthy fibroblasts may improve skin integrity.

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a mutation in the type-VII collagen gene COL7A1. Anchoring fibrils in the cutaneous basement membrane zone are few and poorly developed in this disease, resulting in extensive scarring, blistering, and erosions of the skin and mucous membranes.

Prompted by findings in animal studies that intradermal injections of normal human fibroblasts can generate new human type-VII collagen and anchoring fibrils at the dermal–epidermal junction, investigators injected cultured fibroblasts into small areas of skin in five patients with RDEB (2 had severe Hallopeau-Siemens RDEB, 1 had moderate disease, and 2 had milder forms). Preinjection biopsy samples showed marked reductions in anchoring fi…

Reviewing Author

Craig A. Elmets, MD

Disclosures

Consultant / Advisory board Astellas Pharmaceuticals

EquityVaxin

Grant / Research support NIH; NIH/NCI; Veteran’s Administration; Ferndale Laboratories; Kyowa Hakko Kirin Pharma, Inc.

Editorial boards Cancer Prevention Research; Photodermatology, Photoimmunology, & Photomedicine; UpToDate; eMedicine; Journal of Dermatological Sciences; JAMA Dermatology

Leadership positions in professional societies American Academy of Dermatology (Vice Chair, Committee on Science and Research); Photomedicine Society (Board of Directors)

Craig A. Elmets, MD

Disclosures

Consultant / Advisory board Astellas Pharmaceuticals

EquityVaxin

Grant / Research support NIH; NIH/NCI; Veteran’s Administration; Ferndale Laboratories; Kyowa Hakko Kirin Pharma, Inc.

Editorial boards Cancer Prevention Research; Photodermatology, Photoimmunology, & Photomedicine; UpToDate; eMedicine; Journal of Dermatological Sciences; JAMA Dermatology

Leadership positions in professional societies American Academy of Dermatology (Vice Chair, Committee on Science and Research); Photomedicine Society (Board of Directors)