alexa Epidermolysis bullosa | Japan| PDF | PPT| Case Reports | Symptoms | Treatment

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Epidermolysis Bullosa

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  • Epidermolysis bullosa (EB) is a rare group of inherited disorders that manifests as blistering or erosion of the skin and, in some cases, the epithelial lining of other organs, in response to little or no apparent trauma. Cytolysis causes blisters in the epidermis or basement membrane zone of the skin. In epidermolysis bullosa simplex, cytolysis causes blisters in the basal or spinous layers of the epidermis, and keratinocytes often have abnormal density and organization of keratin filaments. In junctional epidermolysis bullosa, the epidermis separates from the basal lamina, forming a blister cavity in the plane of the lamina lucida, where hemidesmosome structure and density are frequently diminished. In dystrophic epidermolysis bullosa, the basal lamina remains attached to the epidermis, but the blister cavity forms beneath the lamina densa of dermoepidermal junction, and anchoring fibrils may appear abnormal, reduced in number, or altogether absent. Epidermolysis bullosa signs and symptoms include: fluid-filled blisters on the skin, especially on the hands and feet due to friction, deformity or loss of fingernails and toenails, internal blistering, including on the vocal cords, scalp blistering, scarring and hair loss (scarring alopecia), thin-appearing skin, tiny white skin bumps or pimples, dental problems, difficulty swallowing (dysphagia) etc.
  • Treatment of epidermolysis bullosa aims to prevent complications and ease the pain of the blisters with appropriate wound care. Members of your care team may include: a primary care physician who oversees the treatment plan, a physician specializing in wound care, nurses or medical assistants who provide both care and education for managing wounds, a physical therapist and occupational therapist etc.
  • The exact prevalence of epidermolysis bullosa is unknown. Mild variants have been estimated to occur as frequently as 1 per 50,000 births. The more severe varieties are believed to occur in 1 per 500,000 births annually. The epidermolysis bullosa simplex Ogna variant has been described in Norwegian individuals. Epidermolysis bullosa is an autosomal inherited disorder. The incidence does not differ by sex. The onset of epidermolysis bullosa simplex is at birth or early infancy. The onset of junctional epidermolysis bullosa is at birth. The onset of dystrophic epidermolysis bullosa is at birth or early childhood. The onset of Kindler syndrome is usually within the first year of life.
 

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