Prevalence of Crown Resorption in Amelogenesis Imperfecta due to Junctional Epidermolysis Bullosa

Abstract

Introduction: Junctional epidermolysis bullosa (JEB) is a rare genetic disease manifesting with skin and mucosal blistering. As part of the JEB, patients present with syndromic amelogenesis imperfecta (AI). Reports have described external crown resorption (ECR) in the teeth of patients with JEB, but its prevalence is unknown.

Objective: To determine the prevalence of ECR in patients with JEB.

Methods: A longitudinal retrospective cohort study was performed at the Special Care Dentistry Clinic, University of Chile. Clinical records of patients with JEB between 2005 and 2024 were analysed. Prevalence of ECR per patient, per type of tooth and per tooth was calculated.

Results: Of the 20 patients examined, 90% presented ECR in at least one tooth, with an average of 4.8 primary and 6.8 permanent teeth affected. The most affected type of teeth were the incisors. 57.5% of primary incisors and 68% of permanent incisors had resorption. The most affected tooth was #82 in primary dentition (75%) and #32 in the permanent dentition (88.9%).

Conclusions: The prevalence of ECR in patients with AI due to JEB caused by variants in LAMB3 was 90%. Establishing clinical and radiographic dental protocols for the early detection of ECR is essential to prevent extensive tooth destruction.

Keywords: LAMB3; amelogenesis imperfecta; crown resorption; enamel hypoplasia; junctional epidermolysis bullosa.

FIGURE 1

Long‐term radiographic and clinical follow‐up of external crown resorption on the first right lower molar (#46) of a patient with junctional epidermolysis bullosa and amelogenesis imperfecta. (a) Radiographic image of Patient 16 showing unerupted #46 at the age of 4 years and 7 months: complete crown formation. No contrast between enamel and dentin can be seen, compatible with generalised hypoplastic syndromic AI. (b) Same patient at the age of 7 years, 5 months: clinical image shows very early signs of eruption. (c) Radiographic image at 7 years, 10 months showing resorption of the unerupted mesial cusps. (d) Clinical picture at the age of 9 years: The molar does not erupt; the gingival tissue looks fibrous. (e) Radiographic image at the age of 9 years and 6 months showing severe crown resorption. (f) Clinical picture at the age of 9 years and 11 months, fibrotic gingival tissue in the area of tooth #46, that has not erupted. (g) Radiographic image at 10 years old, complete crown resorption of tooth #46. Only a thin layer of dentin covers the pulp chamber: ‘perichamberal resorption‐resistant sheet’ (white arrows). Radicular dentin is unaffected.

FIGURE 2

Long‐term radiographic and clinical follow‐up of external crown resorption on the central and lateral incisors resulting in semilunar edges on a patient with junctional epidermolysis bullosa and amelogenesis imperfecta. (a) Periapical radiograph of primary teeth 63 and 62 of patient 16 at the age of 4 years and 7 months: The incisal edges of the upper permanent incisors 21 and 22 have a normal shape. (b) Same patient at the age of 8 years, 4 months: Clinical image shows crown resorption of both central incisors, with a semilunar shape. (c) Periapical radiograph taken at the age of 9 years and 6 months showing restored edge of central incisor 21 and external crown resorption (ECR) of unerupted lateral incisor 22. (d) Clinical picture at the age of 11 years: 22 erupting with a semilunar edge due to ECR.

FIGURE 3

Prevalence of external crown resorption (ECR) per tooth type. (a) Bar chart describing the prevalence of ECR per tooth type in the primary dentition (incisors/canines and molars). (b) Prevalence of ECR per tooth type in the permanent dentition (incisors/canines/premolars and molars).

FIGURE 4

Prevalence of external crown resorption (ECR) per tooth. (a) Bar chart describing the prevalence of ECR per tooth in the primary dentition (all upper and lower teeth). (b) Prevalence of ECR per tooth in the permanent dentition (all upper and lower teeth).