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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Patients with Herlitz JEB subtypes showing a well-known risk of extra-cutaneous complications require careful monitoring and appropriate intervention medical, surgical, dental, nutritional and psychological before the tissues involved become severely injured.

Antibodies with low specificity that mark several CK, can be used in the diagnosis of undifferentiated neoplasias; since when expressing these epithelial markers, it can be affirmed that it is an undifferentiated carcinoma, thereby differentiating it from bolosa lymphomas, for example. Older patients tend to have chronic ulcers and be colonized with antibiotic-resistant bacteria.

Which types of Herlitz JEB are associated with pyloric atresia? Dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa DEB is due to mutations in the gene encoding type VII collagen, bolhsoa in defective anchoring fibrils and consequent separation of the sub-basal lamina. In some patients, alopecia presents a typical androgenetic pattern.

In most patients, even with correction of pyloric atresia, prognosis is unfavorable, given the extent of systemic involvement. Which form of DEB is associated with generalized blistering, predominantly in acral surface, leading to pseudosyndactyly of the hands boxing glove hands and feet? Prenat Diagn ; Large acquired nevocytic nevi induced by the Kobner phenomenon.

In patients with a defect in CK 10, it is possible that CK 9, present in the stratum lucidum, compensates for the defect in CK 10, since they belong to the same group of acid CKs, 26 mutations of CK 10 have already been described with palmar and plantar involvement. In that as they are expressed in a eimples form, disease consequent to this mutation will be specific to certain cells and certain epithelial segments. Junctional epidermolysis bullosa JEB is an autosomal recessive disorder characterized by separation of the lamina lucida in the dermo-epidermal junction.


Firm and easily torn crusts require epidermolis to prevent maintenance of the inflammatory process.

Epidermólise Bolhosa by Leonor Sá Pinto on Prezi

It usually shows clinical manifestations similar to those of other inherited forms episermolise dystrophic EB. In the presence of anemia, reversible telogen effluvium may occur. J Cell Sci ; The formation of recurring vesicles along the urethra, in the ureterovesical junction and ureters can generate obstructive processes culminating with hydronephrosis.

Fifty-five percent of patients with Herlitz JEB show significant disease impact on quality of life.

Keratin 8 mutations in patients bllhosa cryptogenic liver disease. Received Aug 26; Accepted Oct 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 bolhksa be clarified.

Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmossomes in reconstructed epithelia.

Malabsorptive syndrome may be secondary to denudation of the small bowel mucosa. Patients with severe RDEB who survive childhood have a significant risk of developing aggressive squamous cell carcinoma in areas of chronic lesions.

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Estimates of the incidence and prevalence of inherited EB were made using different techniques for various populations worldwide. Melanocytic proliferations associated with lichen sclerosus. Other less common and nonspecific findings include reduced or absent hair, recurrent albopapuloid lesions on the lower trunk, hypo-or hyperhidrosis.


Malabsorption often leads to iron-deficiency anemia, and protein-calorie malnutrition causes deficit in global development. The risk of melanoma and BCC in other subtypes is comparable to that of the general population.

Virtanen M, Gedde-Dahl Jr.

Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

Mutations of CK 9, since it is found in the palmoplantar epidermis, are accompanied by a degeneration restricted to that area, typical of epidermolytic palmoplantar keratoderma; likewise, in this disease the mutations have been found at the beginning of segment 1 A.

Representation of the proteins affected in different types of inherited epidermolysis bullosa. Support Center Support Center. Likewise, the identification of CK 20 is already used in the diagnosis of Merkel cell carcinoma, 16 as well as in the precocious identification of metastases in the sentinel lymph nodes.

The efficacy of trimethoprim in wound healing of patients with epidermolysis bullosa: J Eu Acad Dermatol Venereol ; The catalog of human hair keratins II. Br J Dermatol ; To date, management of inherited EB basically consists in avoiding traumas that trigger lesions, as well as preventing infection and facilitating healing of the wounds with the systematic use of bandages. A epiderme expressa citoqueratinas diferentes na camada basal e nas camadas suprabasais.

Studies of allogeneic keratinocyte grafting have shown improvement of unhealed wounds in patients with Herlitz JEB, reducing trauma and promoting reepithelialization. Arch Dermatol Res ; Dystrophic epidermolysis bullosa DEB is due to mutations in the gene encoding type VII collagen, resulting in defective anchoring fibrils and consequent separation of the sub-basal lamina.

Hoarseness, coughing and other respiratory symptoms are frequent and exuberant.