[Localised de novo dominant dystrophic epidermolysis bullosa]

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. Optical microscopy, electron microscopy and immunofluorescence analysis suggested dystrophic epidermolysis bullosa. The genealogical tree allowed no distinction between the dominant de novo and mitis recessive forms. Genetic analysis identified a missense G 1776W mutation at exon 61 of gene COL 7A1 in the child's DNA but not the parents'.

Dystrophic epidermolysis bullosa may present in generalized or localized forms and the disease may be inherited in either autosomal dominant or recessive mode. 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 severe), genetic 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 is important for genetic counselling and determination of risk of recurrence.