Epdermolyss bullosa

A group of nherted dsorders where dfferent dsease-causng mutatons result n defects n the structural protens of the basement membrane (see Chapter 17, Fgure 17.1). Charactersed by skn fraglty and blsterng followng mnor trauma, ulceraton and nfecton of wounds followed by scarrng.

Mucosal surfaces may be affected: eyes, gastrontestnal tract (e. g. dysphaga due to oesophageal strctures may lead to nutrtonal defcences and complcatons such as ron-defcency anaema).

There are three man types, wth many subtypes of varyng severty accordng to the level of blster formaton n the skn (Table 46.4).

Dagnoss s made clncally and confrmed by the characterstc electron mcroscopc features on skn bopsy and DNA analyss. Treatment s supportve and amed at:

•  Avodng or mnmsng skn trauma: use of foam pads to pressure ponts, elbows and knees; non-adherent dressng for wounds.

•  Avodng or managng nfected wounds wth antbotcs.

•  Nutrtonal support: mult-vtamn and ron supplementaton.

•  Montorng chronc non-healng wounds for evdence of malgnant transformaton to squamous cell carcnoma and ts prompt treatment n the dystrophc forms of epdermolyss bullosa.

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