Hypoplastic pitted amelogenesis imperfecta linked with Kindler epidermolysis bullosa: JAMA

A recent longitudinal study published in the JAMA Dermatology uncovered a significant association between Kindler epidermolysis bullosa (KEB) and hypoplastic pitted amelogenesis imperfecta which is a rare dental condition characterized by defective enamel formation. This research was conducted from 2003 to 2023 by marking a crucial step forward to understand the comprehensive impact of KEB, a genetic disorder known for causing blistering of the skin and mucous membranes.

Kindler epidermolysis bullosa is a rare genetic condition associated with mutations in the FERMT1 gene, which is crucial for the production of kindlin-1, a protein that plays a key role in the structural stability of the skin. The patients with KEB often suffer from a range of severe orofacial manifestations, including early onset of oral squamous cell carcinoma. However, the potential link between KEB and dental anomalies such as amelogenesis imperfecta remained unexplored until now.

The study spanned for two decades at the Epidermolysis Bullosa Centre, University of Freiburg, Germany and the Special Care Dentistry Clinic, University of Chile, in collaboration with DEBRA Chile. This research focused on a group of 36 patients diagnosed with KEB and analyzed the prevalence and severity of various oral conditions, like enamel defects, gingivitis, periodontal disease and more severe complications such as oral squamous cell carcinoma. Also, all 11 patients assessed for enamel structure abnormalities expressed signs of hypoplastic pitted amelogenesis imperfecta that ranged from generalized to localized enamel pitting.

Beyond enamel defects, this study also observed a high prevalence of other orofacial complications among the KEB patients. 90% of participants suffered from gingivitis and periodontal disease, while more than 70% experienced intraoral lesions and angular cheilitis. The findings also highlighted the presence of gingival overgrowth, microstomia, vestibular obliteration and chronic lip ulcers in a significant number of cases. But, 2 patients developed oral squamous cell carcinoma that cautions the potential for life-threatening outcomes.

This research illuminates the critical need for early and sustained dental care in patients with Kindler epidermolysis bullosa by highlighting hypoplastic pitted amelogenesis imperfecta as a previously unrecognized feature of the disease. The outcomes of this study broaden the understanding of KEB's systemic impact and additionally emphasize the importance of interdisciplinary care in managing this complex genetic disorder.

Reference:

Krämer, S., Hillebrecht, A. L., Wang, Y., Badea, M.-A., Barrios, J. I., Danescu, S., Fuentes, I., Kartal, D., Klausegger, A., Ponce de León, E., Schilke, R., Yordanova, I., Bloch-Zupan, A., & Has, C. (2024). Orofacial Anomalies in Kindler Epidermolysis Bullosa. In JAMA Dermatology. American Medical Association (AMA). https://doi.org/10.1001/jamadermatol.2024.0065