Generaliseret epidermolysis bullosa dystrophicans og udvikling af spinocellulaert karcinom
Sammanfattning
Severe generalized dystrophic epidermolysis bullosa (DEB) is described via a clinical case in an adult male. From the time of birth his skin was characterized by extensive blistering, slowly developing into chronic wounds with the formation of pseudosyndactyly. As he grew older extracutaneous involvement from other organ systems was seen. Specifically, the patient presented with chronic anaemia, growth retardation and ocular findings. At the age of 45, squamous cell carcinomas to the extremities indicate imminent amputation in an attempt to improve survival probability.