A new study in JAMA Dermatology suggests that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa (KEB).

"Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in FERMT1, which encodes kindlin-1," the authors wrote. "Severe orofacial manifestations of KEB, including early oral squamous cell carcinoma, have been reported."

The authors ran the study over a period of 20 years at two centers. The final patient population consisted of 36 patients diagnosed with KEB. The primary outcomes were various oral manifestations such as enamel abnormalities, intraoral wounds, gingivitis, periodontal disease, gingival overgrowth, vestibular obliteration, cheilitis, angular cheilitis, microstomia, and oral squamous cell carcinoma.

According to the study results, 11 patients in whom enamel structure was assessed exhibited some form of enamel abnormality, ranging from generalized to localized pitting. A high prevalence of oral manifestations was reported, with 90% of patients experiencing gingivitis and periodontal disease, followed by intraoral lesions (73%), angular cheilitis (73%), cheilitis (65%), gingival overgrowth (65%), microstomia (56%), and vestibular obliteration (50%). Two patients also presented with chronic lip ulcers, and two cases of oral squamous cell carcinoma were reported, both resulting in fatal outcomes.

"These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa, underscoring the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care," the authors concluded.

Source: Krämer S, Hillebrecht AL, Wang Y, et al. Orofacial Anomalies in Kindler Epidermolysis Bullosa. JAMA Dermatology. Published online March 20, 2024. doi:https://doi.org/10.1001/jamadermatol.2024.0065