EPIDERMOLISIS AMPOLLOSA PDF

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Epidermolysis bullosa simplex EBS is a group of hereditary epidermolysis bullosa HEB disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.

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Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us.

Only comments written in English can be processed. Onset of the disease is usually at birth. Blistering tendency usually worsens in summertime or in warm weather.

The frequency of milia, mild atrophic scarring, focal plantar hyperkeratosis and nail dystrophy is intermediate between that of localized EBS and EBS-DM see these terms , and extracutaneous findings, other than occasional intraoral blistering, are rare. Given the considerable overlap between non-Dowling-Meara EBS and localized EBS within some kindreds, some experts prefer to group both subtypes together.

Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Clinical description Onset of the disease is usually at birth. Genetic counseling Transmission is autosomal dominant and sporadic cases are frequent.

Prognosis Although the disease can be severely disabling, life-expectancy is normal. Additional information Further information on this disease Classification s 2 Gene s 2 Clinical signs and symptoms Other website s 9. Health care resources for this disease Expert centres Diagnostic tests 45 Patient organisations 53 Orphan designation s and orphan drug s 9.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Epidermolysis bullosa

Epidermolysis bullosa is a group of rare diseases that cause fragile skin that leads to blisters and tearing. Tears, sores, and blisters in the skin happen when something rubs or bumps the skin. They can appear anywhere on the body. In severe cases, blisters may also develop inside the body. The symptoms of the disease usually begin at birth or during infancy and range from mild to severe. Anyone can get epidermolysis bullosa. It occurs in all racial and ethnic groups and affects males and females equally.

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Asociación Española de Epidermólisis Ampollosa (AEBE)

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. Onset of the disease is usually at birth. Blistering tendency usually worsens in summertime or in warm weather. The frequency of milia, mild atrophic scarring, focal plantar hyperkeratosis and nail dystrophy is intermediate between that of localized EBS and EBS-DM see these terms , and extracutaneous findings, other than occasional intraoral blistering, are rare. Given the considerable overlap between non-Dowling-Meara EBS and localized EBS within some kindreds, some experts prefer to group both subtypes together.

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2006, Número 4

Junctional epidermolysis bullosa generally becomes apparent at birth and may be severe. Large, ulcerated blisters are common to junctional epidermolysis bullosa and can lead to infections and loss of body fluids. As a result, severe forms of the disease may be fatal. Epidermolysis bullosa ep-ih-dur-MOL-uh-sis buhl-LOE-sah is a group of rare diseases that cause fragile, blistering skin.

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