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.

Author: Maujind Malanris
Country: French Guiana
Language: English (Spanish)
Genre: Travel
Published (Last): 28 May 2011
Pages: 490
PDF File Size: 4.11 Mb
ePub File Size: 12.24 Mb
ISBN: 737-6-12298-154-3
Downloads: 69828
Price: Free* [*Free Regsitration Required]
Uploader: Femuro

Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos

Inheritance is typically autosomal dominant, although rare cases of autosomal recessive inheritance have been documented. Am J Pathol ; K6irs1, K6irs2, K6irs3 and K6irs4 represent the inner-root-sheath-specific type II epithelial keratins of the human hair follicle. Mol Biol Cell ; Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock. Services on Demand Journal. Produzir a haste do cabelo. There is no specific therapy for any form of Herlitz JEB.

Molecular Genetics of Epidermolysis Bullosa

bolgosa Am J Dermatopathol ; J Pediatr Gastroenterol Nutr. Which criteria are taken into consideration prior to the use of topical antibiotic therapy in patients with Herlitz JEB?

Generalized dystrophic epidermolysis bullosa: Often, these patients’ respiratory system is not as strongly involved as that of those with the Herlitz form of the disease. Extracutaneous involvement is rare, with the exception of enamel hypoplasia, which results in the development of cavities. Eruptive melanocytic naevi following severe bullous disease.

Please review our privacy bolhos. Herlitz junctional epidermolysis bullosa: Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. Oral manifestations in epidermolysis bullosa spectrum. Orphanet J Rare Dis. Services on Demand Journal. In older children, the use of special shoes and foam in the knee to prevent blistering is recommended. J Invest Dermatol ; The peak of incidence of Bolhhosa increases dramatically in the second and third decades of life.


Epidermólise Bolhosa (EB) by Sara Fontes on Prezi

Our aim was to develop a comprehensive instrument that is easy to use in the context of interventional studies. Monoclonal antibodies, which specifically mark one CK, are used in the diagnosis of many tumors. Silicone foam is the most complete and effective type of coverage in the healing process, offering epidermoljse, fluid absorption, hydration of the lesions, and antimicrobial epiedrmolise when combined with additives such as silver.

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. J Dermatol Sci ; Other less common and nonspecific findings include reduced or absent hair, recurrent albopapuloid lesions on the lower trunk, hypo-or hyperhidrosis.

Likewise, the trichokeratins are also divided into two groups, denominated according to convention as group I from hHa1 to hHa8 human Hair acidic and group II from hHb1 to hHb6 human Hair basicaccording to their location in the two-dimensional electrophoresis. Arch Dermatol ; Patients with severe RDEB who survive childhood have a significant risk of developing aggressive squamous cell carcinoma in areas of chronic lesions.

J Hand Surg Br. The catalog of human cytokeratins: Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin The most significant complication is partial or complete occlusion of the airways, usually resulting from stenosis of the vocal cords, which can quickly lead to death.

Questions and Answers to Questions 1. Regulation of keratin expression by ultraviolet radiation: Enamel hypoplasia, which facilitates the formation of cavities and tooth loss, is a pathognomonic characteristic of all types of JEB, while microstomia and ankyloglossia are typical of RDEB.


simmples In most patients, even with correction of pyloric atresia, prognosis is unfavorable, given the extent of systemic involvement. 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.

Gene Ther ; 5: The coexistence of symptoms such as depression, anxiety and behavioral disorders should be taken into consideration, as they may compromise treatment strategies and worsen symptoms.

The clinical presentation of inherited EB varies according to the type of disease, and diagnosis can only be reached by skin biopsy and immunofluorescence or electron microscopy, the bolhoa being boohosa the gold standard.

The milder forms of EBS present with blisters that are usually caused by an identifiable traumatic event. In theory, any portion of the gastrointestinal tract, except the gallbladder, pancreas and liver, may be epixermolise in patients with Herlitz JEB, occurring more intensely in RDEB. No carcinoma de Merkel.

Portal Regional da BVS

Pulkkinen L, Uitto J. In EBS, the late onset of muscular dystrophy results from defects in the expression of: Using this technique it was observed that the pattern obtained in the electrophoresis varied, for instance, if it was performed using epidermal epidermolis follicular lysate Figure 1.

However, abnormalities in the scalp, nails and teeth become more apparent. Anemia can be partially improved with iron supplementation and blood transfusions.