Susanne Krämer, Anna Lena Hillebrecht, Yao Wang, Mihail-Alexandru Badea, Jose Ignacio Barrios, Sorina Danescu, Ignacia Fuentes, Demet Kartal, Alfred Klausegger, Enrique Ponce de León, Reinhard Schilke, Ivelina Yordanova, Agnes Bloch-Zupan, Cristina Has
IMPORTANCE: Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported. OBJECTIVE: To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa. DESIGN, SETTINGS, AND PARTICIPANTS: This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile...
March 20, 2024: JAMA Dermatology