Treatment With Ataluren for Wound Healing and Health Complications in a Patient With Junctional Epidermolysis Bullosa

Gregory M Orlowski; Shinya U Amano; Kelly E Flanagan; Kerri E Rieger; M Peter Marinkovich; Karen Wiss

doi:10.1001/jamadermatol.2023.2077

Treatment With Ataluren for Wound Healing and Health Complications in a Patient With Junctional Epidermolysis Bullosa

JAMA Dermatol. 2023 Oct 1;159(10):1145-1147. doi: 10.1001/jamadermatol.2023.2077.

Authors

Gregory M Orlowski¹, Shinya U Amano², Kelly E Flanagan³, Kerri E Rieger⁴, M Peter Marinkovich^{5

6}, Karen Wiss^{3

7}

Affiliations

¹ Department of Dermatology, Boston University, Boston, Massachusetts.
² Division of Dermatology, Maine Medical Center, Portland.
³ Department of Dermatology, University of Massachusetts Chan Medical School, Worcester.
⁴ Departments of Dermatology and Pathology, Stanford University, Palo Alto, California.
⁵ Department of Dermatology, Stanford University School of Medicine, Stanford, California.
⁶ Division of Dermatology, Palo Alto VA Medical Center, Palo Alto, California.
⁷ Department of Pediatrics, University of Massachusetts Chan Medical School, Worcester.

PMID: 37585209
DOI: 10.1001/jamadermatol.2023.2077

No abstract available

Plain language summary

This case report describes an 11-year-old boy with widespread chronic wounds, frequent corneal erosions, dental caries, a tracheostomy, and failure to thrive.

MeSH terms

Epidermolysis Bullosa* / complications
Epidermolysis Bullosa* / diagnosis
Epidermolysis Bullosa, Junctional* / complications
Epidermolysis Bullosa, Junctional* / diagnosis
Humans
Oxadiazoles
Wound Healing

Substances

ataluren
Oxadiazoles