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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Possibly, repeated injury to keratinocytes promotes tumorigenesis. Epidermolysis bullosa, Epidermolysis bullosa dystrophica, Epidermolysis bullosa, junctional, Epidermolysis bullosa simplex.

Treatment of skin cancers in epidermolysis bullosa. K6irs1, K6irs2, K6irs3 and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. Type VII collagen is required for Ras activation in epidermal tumorigenesis. Which type of inheritance is observed in DEB? Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies.

The alteration of the basal layer by mutation, whether CK 5 or 14, leads to the degeneration of the basal layer Figure 6with the fragility and formation of blisters, characteristic of epidermolysis peidermolise simplex EBS 19,20 the first illness in which the mutation of a CK.

Due to their hydration capacity, they have a cooling effect and may help to relieve pain, itching and discomfort. Basal cell carcinomas express basal CK 5 and 14, CK 17 and CK 19 Figure 5a pattern similar to that of the hair follicle, 13,14 and the possibility has been suggested that they originate from the outer root sheath, simplles which correlates with clinical findings, since this tumor is not found in palmar or plantar areas.

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Compound heterozygosity for nonsense and missense mutations in the Epidermoliwe gene in nonlethal junctional epidermolysis bullosa. Assinale a alternativa incorreta: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. Mitsuhashi Y, Hashimoto I.

Cases of JEB with congenital pyloric atresia and, more rarely, of other portions of the gastrointestinal tract, have been described in the literature. With extensive bare areas or areas of crusting, strict care must be taken.

Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin Topical or systemic antibiotics may be used for sumples periods following established criteria to avoid bacterial resistance and sensitization. New therapeutic strategies have been developed to treat RDEB, such as gene therapy, bone marrow stem cell transplantation and recombinant protein infusion.

A new clinical perspective of corneal dystrophies through molecular genetics.

Molecular Genetics of Epidermolysis Bullosa

Electron microscopy EM is simppes the gold standard in the diagnosis of Herlitz JEB, even though it simpples some limitations. As mentioned above, CK 6 and CK 16 are expressed in the epidermis in situations where hyperproliferation occurs, such as in psoriasis and in epithelial tumors, for which it has also been denominated hyperproliferative CK.


Alopecia in epidermolysis bullosa. Acta Derm Venereol Stockh ; Pulkkinen L, Uitto J. Quality-of-life measurement in blistering diseases.

Silicone epider,olise is the most complete and effective type of coverage in the healing process, offering protection, fluid absorption, hydration of the lesions, and antimicrobial properties when combined with additives such as silver. However, the converse is not true. Although the disease is described as precociously fatal, some individuals with milder symptoms can survive during childhood.

Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

In the epidermis, for instance, they can have a basal expression Figure 2 – CK 5 and 14 – or suprabasal – CK 1 and As genetic differentiation is not available in most Brazilian cities, subtypes are usually distinguished by immunological and ultra-structural analysis. J Am Acad Dermatol ; The “boxing glove hands” can be temporarily improved with surgical procedures.

Matrix Biol ; Malabsorptive syndrome may be secondary to denudation of the small bowel mucosa.