Squamous cell cancers in Hallopeau-Siemens recessive dystrophic epidermolysis bullosa
Otte, H.G.; Stieler, W.; Anton-Lamprecht, I.
Der Hautarzt; Zeitschrift für Dermatologie Venerologie und verwandte Gebiete 41(9): 494-498
1990
ISSN/ISBN: 0017-8470 PMID: 2249946 Document Number: 354378
Recessive dystrophic epidermolysis bullosa is one of the most severe hereditary mechano-bullous diseases, characterized by scarring blister formation, nail dystrophy and onycholysis, cutaneous contractures, synechiae, mutilations of the hands and feet and oesophageal stenosis. With increasing age the patients may develop multiple, fast-growing and early-metastasizing squamous cell carcinomas. When epidermolysis is present, precise determination of which of the various forms is concerned is necessary soon after birth, to make it possible to advise parents about the prognosis of the disease and the likelihood of its occurrence in further children. In pregnancies at risk of severe epidermolysis bullosa a prenatal diagnosis should be performed. We present two siblings with recessive dystrophic epidermolysis bullosa, each of whom developed two squamous cell carcinomas.