Determining the genetic basis of EB symptoms through Genotype-Phenotype associations using NGS".

Project Title

Partner Organisations

Facultad de Medicina Clínica Alemana Universidad del Desarrollo

Internal ID

11140440

Principal Investigator

FUENTES BUSTOS, MARIA IGNACIA

Type

basic research

Status

TERMINADO

Start Date

2014

Keywords

Next Generation Seque...

Epidermolysis bullosa...

Genotype-Phenotype as...

Publications

Now showing 1 - 4 of 4

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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
<jats:p><jats:bold>Background:</jats:bold> 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.</jats:p><jats:p><jats:bold>Case Report:</jats:bold> The study was conducted on a 10-year-old patient with JEB carrier of two recessive mutations in the <jats:italic>LAMB3</jats:italic> 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.</jats:p><jats:p><jats:bold>Conclusion:</jats:bold> 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 <jats:italic>LAMB3</jats:italic> 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.</jats:p>
Scopus© Citations 1 3
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Molecular epidemiology of junctional epidermolysis bullosa: discovery of novel and frequent <i>LAMB3</i>
mutations in Chilean patients with diagnostic significance
(2017)
M. Campos
;
REPETTO LISBOA, MARIA GABRIELA
;
P. Morandé
;
YUBERO GONCALVEZ, MARIA JOAO
;
S. Gonzalez
Scopus© Citations 15 1
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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
9
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Ophthalmologic Approach in Epidermolysis Bullosa: A Cross-Sectional Study With Phenotype-Genotype Correlations
(2018)
Felipe Mellado
;
Ignacia Fuentes
;
Francis Palisson
;
José I. Vergara
;
Arturo Kantor
3Scopus© Citations 13

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