Genética Molecular das Epidermólises Bolhosas

Almeida, Hiram Larangeira de

doi:10.1590/s0365-05962002000500002

Cited by 8 publications

(12 citation statements)

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“…The epidermolysis bullosa classification is made according to its mode of inheritance. The distribution of lesions and morbidity associated with the disease can be distinguished in three major groups: simplex, junctional and dystrophic, with more than 20 subtypes [2].…”

Section: Discussionmentioning

confidence: 99%

“…Further, in EB simplex, cleavage occurs within the [2] epidermises, i.e., the lesions are formed as a result of severe degeneration of basal cells of the epidermis by altering the keratin. This type of epidermolysis leaves no scars or causes dental changes [1].…”

Section: Discussionmentioning

confidence: 99%

“…It is a very rare disease and its occurrence in the population is not known precisely, but it is estimated that the prevalence of dystrophic form is about one case in every 20,000 to 130,000 people and the occurrence of a case in 1.3 million people [1]. EB can affect individuals of different age groups, but most cases have been diagnosed during childhood [2].…”

Section: Introductionmentioning

confidence: 99%

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Oral rehabilitation noninvasive in a patient with junctional epidermolysis bullosa: Case report

Okayama¹,

Miyazaki²,

Filho³

et al. 2015

Dent Oral Craniofac Res

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Epidermolysis bullosa occurs in all races worldwide and not differ on incidence between the genders. It is a very rare disease and its occurrence in the population is not known precisely, but it is estimated that the prevalence of dystrophic form is between one case in every 20,000 to 130,000 people and the way acquired a case for 1.3 million people. According to epidemiological data from the United States, there are 50 cases of epidermolysis bullosa 1,000,000 live births. The present study is an attempt to rehabilitate the patient's dentition in question through two hybrid dentures supported on the teeth using a non-invasive treatment and in an efficient manner. Case Report, CF patient, 42 years old, male, white, attended the clinic specialized in prosthodontics University Center North Paulista (UNORP) due to their need for oral rehabilitation. In discussion, by treating able to improve masticatory function, besides the same show already be accustomed to the use of hearing aids without appearance of lesions or blisters and very satisfied with the aesthetic result, increasing their self-esteem. In conclusion, the rehabilitation by means of two hybrid supported denture on teeth has been successfully performed via a non-invasive and efficient treatment.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Oral rehabilitation noninvasive in a patient with junctional epidermolysis bullosa: Case report

Okayama¹,

Miyazaki²,

Filho³

et al. 2015

Dent Oral Craniofac Res

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“…4 Dystrophic EB (DEB) is caused by mutations in the gene COL7A1, which is responsible for encoding collagen VII, main constituent of the anchoring fibrils, which participate in the adherence of the lamina densa to the dermis. 5 The main clinical feature of DEB is scarring resulting from tissue loss, because the cleavage happens below the lamina densa. In this group, there are autosomal dominant and recessive forms.…”

Section: Introductionmentioning

confidence: 99%

Pretibial dystrophic epidermolysis bullosa

2020

Definitions

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Epidermolysis bullosa is a group of mechano-bullous genetic disorders caused by mutations in the genes encoding structural proteins of the skin. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, the main constituent of anchoring fibrils. In this group, there are autosomal dominant and recessive inheritances. The pre-tibial form is characterized by the presence of blisters, milia, atrophic scars and lesions similar to lichen planus. The diagnosis is clinical and laboratory and subtypes are distinguished by means of immunohistochemical and ultrastructural studies, in addition to genetic differentiation. Electron microscopy and immunomapping are used in the diagnosis.

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“…Dystrophic EB (DEB) is caused by mutations in the gene COL7A1, which is responsible for encoding collagen VII, main constituent of the anchoring fibrils, which participate in the adherence of the lamina densa to the dermis. 5 The main clinical feature of DEB is scarring resulting from tissue loss, because the cleavage happens below the lamina densa. In this group, there are autosomal dominant and recessive forms.…”

Section: Introductionmentioning

confidence: 99%