Nghiên cứu đặc điểm lâm sàng, cận lâm sàng, biến chứng của bệnh ly thượng bì bọng nước bẩm sinh thể loạn dưỡng

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Tác giả: Ngọc Thạch Hoàng, Thị Minh Hương Lê, Thanh Liêm Nguyễn, Thanh Huyền Thục

Ngôn ngữ: vie

Ký hiệu phân loại: 581.2 Specific topics in natural history of plants

Thông tin xuất bản: Y Dược lâm sàng 108, 2013

Mô tả vật lý: 52-58

Bộ sưu tập: Metadata

ID: 558836

 Epidermolysis bullosa (EB) is a rare heritable disease clasjficated to some types. Dystrophic Epidermolysis bullosa (DEB) is an severe one, which has many complications causing death. Aims: To describe clinical signs and symptoms, lab findings as well as complications of DEB. Subject and method: Exploring 14 cases diagnosed DEB in the National Hospital of Pediatrics from Oct. 2010 to Oct. 2012. Result: Gender: male/female = 1:1. The average ages: 7 + or - 4.9. Clinical features: 100 percent of patients appear blisters, bullosa, exfoliation when they have a slight collision right after birth
  oral and anal lesions are 100 percent
  eye lesions 64.3 percent
  abnormal nail 100 percent including 64.3 percent with no nails and 35.7 percent dystrophic nail
  and dental lesions 100 percent . Investigations: 85.7 percent of patients have hypochromic microcytic anemia, moderate Hb 8.56 + or - 2.45 g/l. Skin biopsy and histopathological analysing by 3 techniques HE dyeing, electronic microscope, immunofluorescence showed that above and below the membrane of the skin, the collagen VII was absent or just the faint images. Complications: 1 patient died because of septicemia, accounting for 0.7 percent
  malnutrition 92.9 percent
  skin scars 100 percent
  stick the toes or fingers 78.6 percent
  constipation 85.7 percent
  and 100 percent of patients have pains and itching which affected sleeping. Conclusions: DEB is characterized by blisters in the skin and mucosal membranes which develop in response to minor injury, appeared soon after birth
  the typical pathology images are the lack of collagen VII. The severe complications of physical and mental have serious impacts on patients' quality of life.
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