Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations
Date
2021
Type:
Article
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Abstract
Background: Epidermolysis bullosa (EB) corresponds to a series of conditions
characterized by extreme fragility of the skin and/or mucous membranes. Of the four
main types of EB, junctional EB (JEB) is the most associated with alterations in the teeth.
The purposes of this study were to determine the clinical, histopathological, and
ultrastructural characteristics of teeth with amelogenesis imperfecta (AI) in a patient with
JEB, and compare them with control teeth, and correlate the findings with the mutations
present in the patient.
Case Report: The study was conducted on a 10-year-old patient with JEB carrier of
two recessive mutations in the LAMB3 gene and absence of the laminin-332 protein
(LM-332), determined by immunofluorescence on a skin biopsy. The patient presents
hypoplastic AI with very thin and yellow-brown colored enamel. Extraction of two
permanent molars was performed due to pain and soft tissue covering the crown,
resembling pulp polyp or hyperplastic gingiva. Light and scanning electron microscopy
(SEM) revealed very thin enamel varying from complete absence to 60 μm, absence
of normal prismatic structure, and presence of a cross-banding with a laminated
appearance. The histopathological study revealed granulation tissue causing external
crown resorption.
Conclusion: Although coronary resorption has been reported in patients with syndromic
and non-syndromic AI, this is the first clinicopathological report of coronary resorption
in partially erupted teeth in patients with JEB with mutations in the LAMB3 gene and
hypoplastic AI. In patients with this condition, the presence of partially erupted teeth
with soft tissue covering part of the crown, without a periodontal pocket, and with a
radiographic image of partial coronal radiolucency should lead to suspicion of external
coronary resorption.
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Citation
Urzúa B, Krämer S, Morales-Bozo I, Camacho C, Yubero MJ, Palisson F, Fuentes I and Ortega-Pinto A (2021) Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations. Front. Dent. Med. 2:704423. doi: 10.3389/fdmed.2021.704423
Keywords
Amelogenesis imperfecta, Junctional epidermolysis bullosa, Crown resorption, Laminin-332, Rehabilitation of teeth, Bullous genetic disease