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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Dystrophic epidermolysis bullosa is a hereditary heterogeneous blistering disease. Clinical examination and additional tests are not always sufficient to identify the subtype or mode of transmission. We describe a case of de novo dominant inherited dystrophic epidermolysis bullosa localised strictly to the knees.

A 3-year-old boy presented symmetrical lesions on the anterior aspect of the knees since starting to walk. No nail, dental or mucous dystrophy was observed and the parents presented no clinical abnormalities.

Orphanet: Epidermolyse bulleuse simple

Optical microscopy, electron microscopy and immunofluorescence analysis suggested dystrophic epidermolysis bullosa. Epieermolyse genealogical tree allowed no distinction between the dominant de novo and mitis recessive forms.


Dystrophic epidermolysis bullosa may present in generalized or localized epidwrmolyse and the disease may be inherited in either autosomal dominant or recessive epidefmolyse. Genetic analysis shows mutations in COL 7A1. 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.

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. Localised involvement of the skin alone, as seen in our case report, is very rare.

Genetic analysis epixermolyse important for genetic counselling and determination of risk of recurrence. Localised dystrophic epidermolysis bullosa.

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L’épidermolyse bulleuse jonctionnelle

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