YUBERO GONCALVEZ, MARIA JOAO
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YUBERO GONCALVEZ, MARIA JOAO
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myubero@udd.cl
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36197703800

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Reply to “Whether the absence of tongue papillae caused by various reasons can be regarded as the clinical standard of a certain disease”

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , María Joao Yubero , Anne W. Lucky , Francis Palisson

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Absence of tongue papillae as a clinical criterion for the diagnosis of generalized recessive dystrophic epidermolysis bullosa types

2020 , Susanne Krämer , FUENTES BUSTOS, MARIA IGNACIA , YUBERO GONCALVEZ, MARIA JOAO , Carolina Encina , José Farfán , Ignacio Araya , CASTILLO BENNETT, JIMENA VICTORIA , Constanza Fuentes , María Elena McNab , Gisela Zillmann , Marcelo Valle , Anne W. Lucky , Francis Palisson

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Case Report: Crown Resorption in a Patient With Junctional Epidermolysis Bullosa and Amelogenesis Imperfecta With LAMB3 Gene Mutations

2021 , Blanca Urzúa , Susanne Krämer , Irene Morales-Bozo , Claudia Camacho , YUBERO GONCALVEZ, MARIA JOAO , PALISSON ETCHARREN, FRANCIS , FUENTES BUSTOS, MARIA IGNACIA , Ana Ortega-Pinto

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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Epidemiology of epidermolysis bullosa in Chile

2024 , PALISSON ETCHARREN, FRANCIS , YUBERO GONCALVEZ, MARIA JOAO , Cristóbal Lecaros , Susanne Krämer , Constanza Fuentes , Pilar Morandé , Belkis Noya , Glenda Cofré , Jimena Castillo , Francisco Acevedo , Natalia Burattini , Antonella Muñoz , Alfred Klausseger , FUENTES BUSTOS, MARIA IGNACIA

In this manuscript we are presenting the first National Epidermolysis Bullosa Epidemiology study done in South America. Our manuscript describes not only population-level estimates, such as incidence, prevalence and mortality of EB, but also genetic data that are unique to this underrepresented population. We report new data about this rare disease showing comparable life expectancy to wealthier nations, demonstrating the value of specialized EB care centres.

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