16 mar. Diagnóstico Sintomas – 3 tipos de epidermólise bolhosa → Simples → Distrófica → Juncional Causas – incidência → 1 em 50, 3 jun. Epidermólise Bolhosa (EB) O que é? Doença rara e grave caracterizada pela intensa sensibilidade da pele, causando bolhas desencadeadas. Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos. Vanessa Lys Simas Yamakawa d) Simple clinical and histopathological examination.

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In the epidermis, for instance, they can have a basal expression Figure 2 – CK 5 and 14 – or suprabasal – CK 1 and Inheritance is typically autosomal dominant, although rare cases of autosomal recessive inheritance have been documented.

J Cell Sci ; Which types of Herlitz JEB are associated with pyloric atresia?

Due to their hydration capacity, they have a cooling effect and may help to relieve pain, itching and discomfort. Molecular genetics of heritable blistering disorders. Am J Clin Dermatol ; 4: Which type of genetic inheritance is observed in EBS?

Epidermolysis bullosa, Epidermolysis epidefmolise dystrophica, Epidermolysis bullosa, junctional, Epidermolysis bullosa simplex. The application of monoclonal antibodies markers of CK enables an investigation into the origin of tumors and their differential diagnosis. Oral manifestations in epidermolysis bullosa spectrum.

Expression of a truncated keratin 5 may contribute to severe palmo-plantar hyperkeratosis in epidermolysis bullosa simplex patients. Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies. The intraepidermal cleavage observed in EBS is the result of mutation in which genes? Corrective gene transfer of keratinocytes from epider,olise with junctional epidermolysis bullosa restores assembly of hemidesmossomes in reconstructed epithelia.

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Which gene is mutated in more than half of patients with JEB?

Epidermólise Bolhosa by Leonor Sá Pinto on Prezi

Nutritional aimples plays a critical role in the resolution of wounds. Arch Dermatol ; Osteopenia and osteoporosis are common manifestations of which type of Herlitz JEB? Flexural contractures of the extremities are common and intensify with age. Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. A new clinical perspective of corneal dystrophies through molecular genetics.

Eruptive large melanocytic nevus in a patient with bolhoa epidermolysis bullosa simplex. Arch Dermatol ; Infants require greater care and control of the environment around them to prevent trauma.

The antiadherent and absorbent characteristics of simpples were crucial in the choice of materials, for this is a disease that evolves with bullous lesions, extensive exulcerated wounds, high chances of infection and scarification. In another variant, described by Pasini, there is also involvement of the oral mucosa and teeth, but blistering is more extensive and similar to papules on the trunk albopapuloid lesions.

Epidermólise Bolhosa (EB) by Sara Fontes on Prezi

However, the presence of scar tissue in patients with chronic Herlitz JEB cannot explain this phenomenon alone, because SCC that affect scar tissue are not usually as aggressive as those involving patients with RDEB, suggesting that other factors may be involved in its pathogenesis.

Despite such a close similarity, monoclonal antibodies have been developed that are capable of marking each CK. The bolhosw of these monoclonal antibodies allows, for instance, the determination of which CK are found in a given tumor and the origin of these cells, based on molecular markers and not just their morphologic aspects.

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There is gradual alopecia in areas of frictional trauma and blistering in patients with DEB. In the hair follicle basal CK and hyperproliferative CK are found – CK 6, 16 and 17 – they received this denomination as they are also found in pathological situations, such as in the epidermis of psoriasis and in tumors. An inducible mouse model for epidermolysis bullosa simplex: Monoclonal antibodies, which specifically mark one CK, are used in the diagnosis of many tumors.

Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

As citoqueratinas ancoram-se nos desmossomas e hemidesmossomas. Epidermolysis bullosa simplex EBS is simpes by a disorder of keratinocytes, intraepidermal blistering and little systemic involvement.

Clinically opacity and vesicles intraepithelial are seen, and any of two CK can be involved, leading to the same ophthalmologic clinical picture, in a way very similar to that which occurs in EBS.

Regulation of keratin expression by ultraviolet radiation: The severity of skin lesions does not necessarily correlate with the degree of muscular dystrophy. CK have been classified through two-dimensional electrophoresis, 5 which separates the proteins not only by their molecular weight, but also on the account of pH.

The molecular basis of hereditary palmoplantar keratodermas. Exp Eye Res ; Preimplantation genetic diagnosis in two families at risk for recurrence of Herlitz bklhosa epidermolysis bullosa.