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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Inherited epidermolysis bullosa: clinical and therapeutic aspects

In steatocystoma multiplex, whose cysts are similar to those of type 2 pachyonychia congenita, mutations have also been described in CK 17 – including identical mutations, that can be considered clinical variants, since in some cases there is also mild ungual involvement, 31 other genetic factors must be involved, as this would explaining the different phenotypes resulting from the same mutations, 31 however, these have yet to be clarified.

The clinical spectrum of dystrophic epidermolysis bullosa. Malabsorption often leads epidedmolise iron-deficiency anemia, and protein-calorie malnutrition causes deficit in global development. First, an inventory of the affected body surface area and boluosa type of skin involvement intact blisters, erosions and chronic lesions should be made.

Two cases of atypical melanocytic lesions in recessive dystrophic epidermolysis bullosa infants. Instrument for scoring clinical outcome of research for golhosa bullosa: The molecular basis of hereditary palmoplantar keratodermas.

Type VII collagen is required for Ras activation in epidermal tumorigenesis. The clinical spectrum of epidermolysis bullosa simplex. The molecular genetics of keratin disorders. Extracutaneous involvement is rare, with the exception of enamel hypoplasia, which results in the development of cavities.

Participar da motilidade celular. Electron microscopy EM is still the gold standard in the diagnosis of Herlitz JEB, even though it has some limitations.

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Is screening of the candidate gene necessary in unrelated partners of members of families with Herlitz junctional epidermolysis bullosa? Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.


Adjuvant cytokeratin staining in Mohs micrographic surgery for basal cell carcinoma. Some patients require a gastrostomy tube for optimal nutritional status. The bokhosa is an intracellular proteic network, constituted by intermediate filaments, which measure from seven to 10 nm in thickness; by actin filaments, of about 7 nm; and by the microtubules, that measure 25 nm.

Klin Monatsbl Augenheilkd ; Revised classification system for inherited epidermolysis bullosa: Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa. J Biol Chem ; Produzir a haste do epirermolise. Variable blistering, followed by muscular dystrophy golhosa adulthood, can be seen in EBS with muscular dystrophy, a defect in the expression of plectin.

Services on Demand Journal. As a result, the pathogenesis of many skin diseases has been epifermolise, such as Epidermolysis bullosa simplex CK 5 or 14Epidermolytic hyperkeratosis CK 1 or 10Epidermolytic palmoplantar keratoderma CK 9 and Pachyonychia congenita CK 6, 16 or Curative options for each type of lesion are shown in table simplez ; the properties of each category of dressings are shown in table 4.

Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies. In some patients, alopecia presents a typical androgenetic pattern. A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex.

DEB may be associated with autosomal recessive or dominant inheritance.

Eruptive melanocytic naevi following severe bullous disease. Extensive areas of bare skin show loss of stratum corneum barrier and allow microbial penetration. Predominance ot the recurrent mutation RX in the LAMB3 gene in european patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

CQ 19 e Gene Ther ; 5: New local therapeutic strategies include the use of biological or skin-like dressings. As opposed to other mechano-bullous diseases, there are multiple cleavage planes intradermal, junctional or sub-lamina densa and other dermatological findings such as poikiloderma and photosensitivity also differentiate KS from all other forms of inherited EB.


Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. Mol Biol Cell ; Mucous membranes are often affected by erosions, resulting in stenosis. Diagnosis must be based on clinical and histopathological findings. A systematic review of randomized controlled trials of treatments for inherited forms of epidermolysis bullosa.

This process is compromised by multiple factors including foreign bodies, bacteria, deficiency of nutritional factors and tissue hypoxia. 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.

Molecular Genetics of Epidermolysis Bullosa

In EBS, the late onset of muscular dystrophy results from defects in the expression of: With increasing age, blisters tend to be more localized. Thin layer of absorbent cotton fibers that are placed between layers of polyethylene terephthalate with perforations and sealed borders.

Although the disease is described as precociously fatal, some individuals with milder symptoms can survive during childhood. Immunohistochemical study uses a limited number of antibodies and can be a useful epidrmolise. These specific patterns allow CK to be used as important markers for epithelial differentiation.

Flexural contractures of the extremities are common and intensify with age. Lesions should be cleaned with solutions of low toxicity, such as saline solution and water.

Often, these patients’ respiratory system is not as bolhpsa involved as that of those with the Herlitz form of the disease. Br J Dermatol ; Ears, nose and throat. Hattori N, Komine M, Yano et al.

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