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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Epidermolyse bulleuse jonctionnelle ** – Haras-nationaux
Antenatal diagnosis Prenatal testing using fetal DNA from chorionic villi or amniotic fluid cells is possible if the causative gene is known and the pathogenetic mutation s identified. 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. Health care resources for this disease Expert centres 94 Diagnostic tests 90 Patient organisations 42 Orphan drug s Localised dystrophic epidermolysis bullosa.
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 bullleuse occur either spontaneously or after physical trauma.
Epidermolysis bullosa, Ultrasound three-dimensional 3DCongenital epidermolysis simplex, Prenatal. Cutaneous findings are not reliable diagnostic markers. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be bulpeuse or stored, be corrected, clarified, updated or deleted.
L’épidermolyse bulleuse jonctionnelle
Epidermolysis bullosa EB comprises a heterogeneous group of genodermatoses whose prognosis is variable. Diagnosis is usually straightforward with little bluleuse for extensive differential diagnosis.
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. Access to the text HTML. Journal page Archives Contents list.
Scarring is mostly absent or minimal mild atrophic wrinkling dpidermolyse dyspigmentation. Dystrophic epidermolysis bullosa may present in generalized or localized forms and the disease may be inherited in either autosomal dominant or recessive mode.
Le Louarn bJ.
Access to the full text of this article requires a subscription. Dystrophic epidermolysis bullosa is a hereditary heterogeneous blistering disease. Onset is usually at or shortly after birth, although blistering in localized EBS may not develop until late childhood or early adulthood.
A 3-year-old boy presented symmetrical lesions on the anterior aspect of the knees since starting to walk. 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.
Clinical manifestations of the classical EBA include skin fragility, blisters over the trauma-prone surfaces and milium cysts.
You can move this window by clicking on the headline. 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. While the clinical features often allow different types to be distinguished when the parents do not have the disease with the recessive forms being more severegenetic analysis is essential to confirm the mode of inheritance.
If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Correct diagnosis of EBS subtype is crucial to proper genetic counseling. 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.
Charlesworth dG. Summary and related texts. 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. Access to the text HTML.
You can move this window by clicking on the headline. 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. If you are bylleuse subscriber, please sign in ‘My Account’ at the top right of the screen.
Epidermolysis bullosa acquisita EBA is a rare autoimmune subepidermal bullous disease with autoimmunity to the epidermolgse VII collagen which is the major component of anchoring fibrils.
Additional information Further information on this disease Classification s 2 Gene s 11 Clinical signs and symptoms Publications in Bulpeuse Other website s Only comments written in English can be processed. 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.
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Épidermolyse bulleuse acquise – EM|consulte
We describe a case of de novo dominant inherited dystrophic epidermolysis bullosa localised strictly to the knees. The genealogical tree allowed no distinction between the dominant de novo and mitis recessive forms.
Several subtypes exist based on the intraepidermal localization of blisters. Epidermolgse to the PDF text. The commonest extracutaneous manifestation is blistering of the oral cavity. Localised involvement of the skin alone, as seen in our case report, is very rare. A variety of additional extracutaneous complications may occur and are age-dependent, with time of onset and cumulative risk of occurrence highly dependent on the EB subtype.
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In the dominant forms, and more recently epldermolyse recessive cases, glycine substitutions have been implicated, although the precise role of glycine substitution has yet to be clarified. No nail, dental or mucous dystrophy was observed and the parents presented no clinical abnormalities. You can move this window by clicking on the headline.
Management is based on the avoidance of blistering by meticulous protective skin bullfuse and appropriate life-style epidermplyse avoid trauma, and prevention of secondary infection by careful wound care. Recommended techniques are immunofluorescence antigen mapping IFM and transmission electron microscopy TEM performed on a skin biopsy sample.
Management and treatment Management is based on the avoidance of blistering by meticulous protective skin padding and appropriate life-style to avoid trauma, and prevention of secondary infection by careful wound care.