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.
|Published (Last):||3 August 2004|
|PDF File Size:||15.55 Mb|
|ePub File Size:||4.26 Mb|
|Price:||Free* [*Free Regsitration Required]|
Other search option s Alphabetical list.
Epidermolyse bulleuse jonctionnelle ** – Haras-nationaux
Personal information regarding our website’s visitors, including their identity, is confidential. Journal page Archives Contents list. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data.
The owners of this website epidermolye guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties. Access to the full text of this article requires a subscription.
Summary and related texts. Health care resources for this disease Expert centres 94 Diagnostic tests 90 Patient organisations 42 Orphan drug s Clinical description Onset is usually at or shortly after birth, although blistering in localized EBS may not develop until late childhood or early adulthood.
Along with localized or generalized blistering and erosions, sometimes showing characteristic patterns herpetiform groupingcutaneous features may include nail shedding and dystrophy, and, rarely, milia formation. The authors report a case of antenatal image limited skin undermining highlighted by the ultrasound three-dimensional 3D in connection with a diagnosis of a congenital epidermolysis simplex confirmed postnatal period.
For all other comments, please send your remarks via contact us. Prognosis Prognosis is highly dependent on the subtype.
Several subtypes exist based on the intraepidermal localization of blisters. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. epidermolyxe
Genetic analysis shows mutations in COL 7A1. Access to the full text of this article requires a subscription. Clinical manifestations of the classical EBA include skin fragility, blisters over the trauma-prone surfaces and milium cysts.
As per the Law relating to information storage and personal integrity, you have the right to oppose art bulleusf of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. Check this box if you wish to receive a copy of your message. Epidermolysis bullosa simplex congenital antenatal discovery and contribution of 3D ultrasound.
Contact Help Who are we? Diagnostic methods Diagnosis is based on determination of the epidermal level within which blisters develop following minor skin traction. However, in the neonatal period, in utero herpes simplex infection may be considered, especially if there is no family history of blistering disease or if clinical findings are atypical for EB.
You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your bylleuse data.
Outline Masquer le plan. Contact Help Who are we? Access to the text HTML. Contact Help Who are we? Pinault a buleuse, Y.
Localised dystrophic epidermolysis bullosa. 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.
The documents contained in this web site are presented for information purposes only. Patients with EB subtypes with the highest risk of specific extracutaneous complications need to be monitored closely and appropriate measures implemented to prevent the affected tissues from becoming severely injured.
Disease definition 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. Epidermolysis bullosa, Ultrasound three-dimensional 3DCongenital epidermolysis simplex, Prenatal. Meneguzzi dF. Top of the page – Article Outline. Differential diagnosis Diagnosis is usually straightforward with little need for extensive differential diagnosis.
The commonest extracutaneous manifestation is blistering of the oral cavity. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. Most patients have a normal life expectancy but significant morbidity and even early death may occur in some subtypes.
In the dominant forms, and more recently in recessive cases, glycine substitutions have been implicated, although the precise role of glycine substitution has yet to be clarified. A 3-year-old boy presented symmetrical lesions on the anterior aspect of the knees since starting to walk. Genetic counseling Inheritance is either autosomal dominant or autosomal recessive, depending on the subtype.
L’épidermolyse bulleuse jonctionnelle
Clinical examination and additional tests are not always sufficient to identify the subtype or mode of transmission. Additional information Further information on this disease Classification s 2 Gene s 11 Clinical signs and symptoms Bjlleuse in PubMed Other website s Journal page Archives Contents list. Etiology EBS is caused by genetic mutations in specific genes depending on the subtype. Epidermolysis bullosa simplex EBS is a group of hereditary bullduse bullosa HEB disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.