Epidermólise bolhosa distrófica recessiva mitis: relato de caso clínico. Article ( PDF Available) in Anais Brasileiros de Dermatologia 80(5) · October with Início · Epidermólise Bolhosa · O que é a EB? Cuidados Básicos · Info para nova realidade num mundo cheio de desafios. O que é a Epidermólise Bolhosa?. A epidermólise bolhosa hereditária (EBH) compreende um grupo heterogêneo de desordens genéticas que têm em comum a fragilidade cutânea e, em alguns .
|Published (Last):||13 November 2017|
|PDF File Size:||7.42 Mb|
|ePub File Size:||5.43 Mb|
|Price:||Free* [*Free Regsitration Required]|
Br J Dermatol ; Curative options for each type of lesion are shown in table 3 ; the properties of each category of dressings are shown in table 4. Both can occur in childhood, causing scarring and progressive visual impairment, if not treated.
The skin should be evaluated at least every six months, even though most patients are reluctant to this exposure. Nail atrophy and alopecia are other common manifestations. With respect to the treatment of lesions, blister puncturing to prevent dissemination and use of sterile dressings are recommended. Morphologic changes of pigmented skin lesions: Junctional epidermolysis bullosa JEB is an autosomal recessive disorder characterized by separation of the lamina lucida in the dermo-epidermal junction.
Hoarseness, coughing and other respiratory symptoms are frequent and exuberant. 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.
However, the mechanism and the risk and benefits of this aggressive treatment in the long term need to be better understood. Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa.
Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A. Which form of DEB is associated with generalized blistering, predominantly in acral surface, leading to pseudosyndactyly of the hands boxing glove hands and feet? In the dominant subtype DDEB clinical manifestations usually occur at birth or during childhood, with generalized blistering.
Immunological mapping in hereditary epidermolysis bullosa. Avoiding trauma is essential to bohosa pain. National Center for Biotechnology InformationU. Plastic filmthat prevents adherence of the dressing to the wound surface.
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.
Cuidados odontológicos em pacientes com epidermólise bolhosa by jose carlos martins on Prezi
J Am Acad ; The use of cultured allogenic keratinocyte grafting in a patient with epidermolysis bullosa simplex. Patients with esophageal stenosis must undergo dilation to maintain an adequate intake of nutrients orally. These lesions may recur frequently even with aggressive surgical excision.
Dressings should also be protective – considering the development of lesions after minimal trauma – and durable enough for the exchanges to occur with the minimum possible frequency. Appearance of lesions in patients with dystrophic epidermolysis bullosa. Which method is considered the gold standard in the diagnosis and classification of Herlitz JEB? Some patients may also present dental abnormalities. Meanwhile, local measures and prophylaxis of clinical complications, as well as multiprofessional contribution, are the only effective strategies to control the disease.
The intraepidermal cleavage observed in EBS is the result of mutations in the K5 and K14 genes, which encode the production of keratin and type I and II intermediate filament proteins, expressed in keratinocytes of the basal layer of the epidermis and epithelial-related complexes.
Cases of JEB with congenital pyloric atresia and, more rarely, of other portions of the gastrointestinal epidermolize, have been described in the literature.
J Cutan Pathol ; Generally, KS is associated with disruption of the basement membrane and abnormal deposition of type VII collagen both in regions with active lesions and in lesion-free areas.
The generalized atrophic benign Volhosa is a relatively mild subtype characterized bklhosa skin blisters present at birth. Alopecia in epidermolysis bullosa. As its name suggests, EBS with pyloric atresia presents with pyloric atresia at birth and, usually, blistering is widespread. The antiadherent and absorbent characteristics of dressings 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.
Iron supplementation oral or intravenous may eepidermolise required in some patients. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heteregeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa.
Inherited epidermolysis bullosa: clinical and therapeutic aspects
Potent topical corti costeroids for a short period. Children unable to ingest food orally should receive supplementation via gastrostomy. 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.
Firm and easily torn crusts require debridement to prevent maintenance of the inflammatory process. Received Aug 26; Accepted Oct The milder forms of EBS present with blisters that are usually caused by an identifiable traumatic event.
Epidermólise bolhosa hereditária: aspectos clínicos e terapêuticos
This is done with the use of non-adhesive synthetic hydrocolloid dressing. Millium formation occurs due to damage in the hair follicles. The intraepidermal cleavage observed in EBS is the result of mutation in which genes?
In DDEB many studies are being conducted focusing epidfrmolise ways that negatively regulate the dominant negative gene, or, alternatively, that offset its presence with up regulation of other genes whose products may offer, even if partially, better skin structural stability, replacing the effect of the underlying mutation.
HL, Schumann H, et al. The cause may be multifactorial, including micronutrient deficiencies epidermoluse and carnitinetransfusion-related iron loss and viral myocarditis. Which types of Herlitz JEB are associated with pyloric atresia? Fifty-five percent of patients with Herlitz JEB show significant disease impact on quality of life.