The authors have indicated no significant interest with commercial supporters.H ereditary epidermolysis bullosa (EB) is a diverse group of genetic skin disorders having blister formation mostly upon minor trauma as their common feature. They present with a wide clinical spectrum of manifestations because of different underlying molecular defects. EB arises from abnormalities in proteins of the dermoepidermal junction. Three major EB forms can be distinguished on the basis of ultrastructural blistering level: EB simplex, junctional EB (JEB) and dystrophic EB (DEB). EB simplex is a mild form since the defect is located in certain keratins expressed in the keratinocytes of the basal layer, thus causing only superficial blisters. JEB can be associated with defects in the basement membrane protein laminin 5 and thus presents with deeper wounds, which sometimes heal with a distinctive atrophic appearance. DEB is caused by mutations in Type VII collagen, a dermal protein which anchors into the basement membrane. The hallmark features of DEB are deep wounds associated with scarring and severe mutilations. 1 In addition, DEB patients suffer frequently from multiple squamous cell carcinomas (SCC). 1,2 These tumors exert a quite aggressive phenotype with early metastases. 1 Owing to the impaired wound healing and the tendency for mutilating scarring, surgical removal of these tumors is quite problematic.In contrast to DEB, multiple SCC are not a typical feature of JEB. 2 Here we report a patient with JEB who developed multiple SCC. His brother, who was also affected by JEB, died from multiple SCC due to extensive metastasis. Because of the rare association of multiple SCC and JEB, the surgical experiences in this unique setting are very limited. We compared different approaches of wound closure after extensive open excisions in this patient.
Case ReportA patient with JEB developed SCC on the lower legs for the first time at the age of 39 years. Clinical diagnosis of JEB was made a few days after birth and confirmed by electron microscopy and antigen mapping. Skin defects by JEB extended mainly over his lower legs. The entire region was almost completely covered with blisters, which were impetiginized mostly by Staphylococcus aureus. Other areas affected but less severely were arms, trunk, and thighs. His younger brother also suffered from JEB with a more pronounced course of the disease. 3 He developed multiple SCC at the age of 32 years. Despite surgical treatment, the aggressive growth of these tumors led to metastasis involving the lymph nodes and the lung and finally to death at the age of 39.In the presented patient, SCC was first diagnosed 11 years previously. He presented with hyperkeratotic areas of approximately 10 Â 12 cm on both shins. Diagnosis was confirmed by multiple punch biopsies. We performed large excisions of the lesions with