L’épidermolyse bulleuse jonctionnelle (EBJ) est une maladie génétique létale qui concerne particulièrement les Comtois et les Breton. L’épidermolyse bulleuse (EB) comprend un groupe hétérogène de génodermatoses dont le pronostic est variable. Le diagnostic peut être évoqué en anténatal. Annales de Dermatologie et de Vénéréologie – Vol. – N° 3 – p. – Épidermolyse bulleuse dystrophique localisée dominante de novo – EM|consulte.

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Air-conditioning may help in preventing disease worsening in warm weather. Dystrophic epidermolysis bullosa may present in generalized or localized forms and the disease may be inherited in either autosomal dominant or recessive mode.

Epidermolyse bulleuse jonctionnelle ** – Haras-nationaux

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used bulleise a basis for diagnosis or treatment. The genealogical tree allowed no distinction between the dominant de novo and mitis recessive forms.

Along with localized or generalized blistering and epidermolse, sometimes showing characteristic patterns herpetiform groupingcutaneous features may include nail shedding and dystrophy, and, rarely, milia formation.

Recommended techniques are immunofluorescence antigen mapping IFM and transmission electron microscopy TEM performed on a skin biopsy sample. Pinault aY.

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Prognosis Prognosis is highly dependent on the subtype. Personal information regarding our website’s visitors, including their identity, is confidential. Inheritance is either autosomal dominant or autosomal recessive, depending on the subtype. Access to the PDF text. The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.

You can move this window by clicking on the headline. Localised involvement of the skin alone, as seen in our case report, is very rare. Contact Help Who are we? If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Clinical manifestations of the classical EBA include skin fragility, blisters over the trauma-prone surfaces and milium cysts. Most patients have a normal life expectancy but significant morbidity and even early death may occur in some subtypes.

L’épidermolyse bulleuse jonctionnelle

A 3-year-old boy presented symmetrical lesions on the anterior aspect of the knees since starting to walk. For all other comments, please send your remarks via contact us.

Cutaneous findings are not reliable diagnostic markers. Scarring is mostly absent or minimal mild atrophic wrinkling and dyspigmentation. Onset is usually at or shortly after birth, bullfuse blistering in localized EBS may not develop until late childhood or early adulthood.

Genetic analysis shows mutations in Bklleuse 7A1. Only comments seeking to improve the quality and bjlleuse of information on the Orphanet website are accepted. Access to the full text of this article requires a subscription.

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Other search option s Alphabetical list. Contact Help Who are we? 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. Bursztejn aA. The documents contained in this web site are presented for information purposes only. Epidermolysis bullosa EB comprises a heterogeneous group of genodermatoses whose prognosis is variable.

If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Top of the page – Article Outline. Correct diagnosis of EBS epdiermolyse is crucial to proper genetic counseling. Access to the full text of this article requires a subscription.

Bulleusw examination and additional tests are not always sufficient to identify the subtype or mode of transmission. Top of the page – Article Outline. Personal information regarding our website’s visitors, including their identity, is confidential.

If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be epiderrmolyse or stored, be corrected, clarified, updated or deleted.

Journal page Archives Contents list. Access to the text HTML. Journal page Archives Contents list.