<\/span><\/h2>\nPruritic epidermolysis bullosa (pruritic EB) is rare and clinically heterogeneous<\/span> subtype of dystrophic epidermolysis bullosa (EB dystrophic), resulting from a mutation<\/span> within type VII collagen<\/span> gene<\/span>.<\/p>\nPruritic EB is characterized by intense itching (pruritus<\/span>) hypertrophic<\/span> plates<\/span> in a linear<\/span> setting<\/span>It is usually found in the lower extremities of an affected individual. First described in 1994, fewer than 100 cases have been documented in the literature, and as such little is known about the condition or its treatment.<\/p>\n<\/span>Who gets pruritic epidermolysis bullosa?<\/span><\/h2>\nPruritic EB can present shortly after birth or in early adulthood.<\/p>\n
\n- In neonates<\/span>Pruritic, EB usually presents as blisters on the peripheral<\/span> extremities Blisters may continue or temporarily resolve in infancy.<\/li>\n
- During adolescence or early adulthood, patients with pruritic EB develop pruritic lichenified plaques that persist long-term. The initial presentation can be delayed until the second or third decade of life.<\/li>\n<\/ul>\n
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<\/span>What Causes Pruritic Epidermolysis Bullosa?<\/span><\/h2>\nAs with other forms of dystrophic EB, the clinical findings of pruritic EB are attributed to mutations<\/span> in the COL7A1 gene in chromosome<\/span> 3p21.3, which encodes type VII collagen. Pruritic epidermolysis bullosa case reports reveal many different alterations to this gene, including missense, nonsense, frame shift, and splice site mutations.<\/p>\nType VII collagen is an important structural component of anchoring skin fibrils<\/span> in the dermoepidermal<\/span> union (DEJ). Mutations in the coding gene impede the function of the anchor fibrils and lead to a division in the DEJ below the level of the lamina densa. Clinically, this manifests as trauma<\/span>induced by blisters, which upon healing leave a scar<\/span>.<\/p>\nThe inheritance is variable; Most cases have been found to be sporadic. Autosomal<\/span> dominant and autosomal recessive<\/span> patterns have also been reported.<\/p>\nThe characteristic pruritic component of the condition is poorly understood. A raised serum<\/span> The level of IgE has been found in 7 of 9 patients examined with pruritic epidermolysis bullosa, and in some cases it was found to be more than 3 times the upper limit of normal. However, a personal or family history of atopy<\/span> was a confounder in three of these patients, so the results are far from conclusive.<\/p>\nIt has been suggested that the hypertrophic, lichenified, nodular<\/span> prurigo<\/span>similar to the plaques seen in disease are secondary to chronic<\/span> scratch<\/p>\n<\/span>What are the clinical features of pruritic epidermolysis bullosa?<\/span><\/h2>\nThe classic appearances of pruritic EB are intensely itchy, excoriated, lichenified. violaceous<\/span> papules<\/span>, nodules<\/span> and plates. They are generally linear in configuration and most often affect the pre-tibial skin, although they can also be seen on the forearms and trunk. Face, neck and push-ups<\/span> You are safe. A dystrophy<\/span> it is seen very commonly and is useful to distinguish from other conditions. Prurigo-type lesions are due to scars and milia<\/span> are seen within them.<\/p>\nDifferential diagnoses include:<\/p>\n
\n- Nodular prurigo<\/li>\n
- Chronic lichen simplex<\/li>\n
- Hypertrophic lichen planus<\/li>\n
- Cutaneous<\/span> and lichen amyloidosis<\/li>\n
- Psychogenic pruritus<\/span>, e.g compulsive<\/span> picking disorder\n<\/li>\n
- \nDermatitis<\/span> artifact<\/li>\n<\/ul>\n
<\/span>How is pruritic epidermolysis bullosa diagnosed?<\/span><\/h2>\nA presumptive diagnosis of pruritic EB can be made based on clinical findings along with a positive mechanobulous history and clear evidence of inheritance within the family. When the diagnosis is uncertain, the skin biopsies<\/span> for the light microscopy<\/span> and to electron microscope<\/span> they are useful<\/p>\nthe histological<\/span> Features of pruritic EB include hyperkeratosis<\/span>, acanthosis<\/span> and interruption of the DEJ, with a prominent dermal<\/span> and perivascular<\/span> lymphohistiocytic<\/span> infiltrate<\/span>. A subepidermal blister may be seen, although it is seldom clinically evident, as can milia formation.<\/p>\nElectron microscopy can be valuable in confirming the level of division, and should show diminished or absent anchoring fibrils in the dense sub-lamina below the basal<\/span> cap<\/span> of the epidermis<\/span>. Direct immunofluorescence<\/span> of perilesional<\/span> skin is negative, but may be useful research to exclude other bullous<\/span> terms<\/p>\nGenetic<\/span> the sequence will demonstrate mutations in COL7A1.<\/p>\n\n
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<\/span>What is the treatment for pruritic epidermolysis bullosa?<\/span><\/h2>\nThe most commonly used treatments for pruritic EB are powerful. current<\/span> steroids under occlusion<\/span>or intralesional steroids. Other proven treatments include:<\/p>\n\n- Compression socks<\/li>\n
- Oral antihistamines<\/li>\n
- Dapsone<\/li>\n
- Cyclosporine<\/li>\n
- Tacrolimus ointment<\/span><\/li>\n
- Thalidomide<\/li>\n
- Isotretinoin<\/li>\n
- \n
UVB phototherapy\n<\/li>\n
- Ketamine-amitriptyline gel<\/span>.<\/li>\n<\/ul>\n
Success has been mixed and no sustained effects have been reported.<\/p>\n
<\/span>What is the prognosis for patients with pruritic EB?<\/span><\/h2>\nLittle is known about the long-term outcome for patients with pruritic EB. It is chronic and often refractory to treatment. Complications have included lymphedema of the lower extremities, and a single case of a well has been reported differentiated<\/span> scaly<\/span> cell carcinoma<\/span> on the affected skin<\/p>\nSome patients have responded very well to the treatments listed above, but there are no long-term data regarding the sustainability of the induced drugs. remission<\/span>.<\/p>\n<\/section>","protected":false},"excerpt":{"rendered":"\u00bfQu\u00e9 es la epiderm\u00f3lisis ampollosa pruriginosa? La epiderm\u00f3lisis ampollosa pruriginosa (EB pruriginosa) es rara y cl\u00ednicamente heterog\u00e9neo subtipo de epiderm\u00f3lisis ampollosa distr\u00f3fica (EB distr\u00f3fica), resultante de un mutaci\u00f3n dentro del…<\/p>","protected":false},"author":8,"featured_media":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","format":"standard","meta":{"footnotes":""},"categories":[204],"tags":[],"class_list":["post-7987","wiki","type-wiki","status-publish","format-standard","category-glosario-definiciones"],"_links":{"self":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7987","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki"}],"about":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/types\/wiki"}],"author":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/comments?post=7987"}],"version-history":[{"count":0,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/wiki\/7987\/revisions"}],"wp:attachment":[{"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/media?parent=7987"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/categories?post=7987"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/doctorhoogstra.com\/en\/wp-json\/wp\/v2\/tags?post=7987"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}