Orofacial Anomalies in Kindler Epidermolysis Bullosa.

ABSTRACT:

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. Participants included a convenience sampling of all patients with a diagnosis of Kind

SUBMITTER: Kramer S 

PROVIDER: S-EPMC10955352 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature