Inherited epidermolysis bullosa - associated cutaneous squamous cell carcinoma on the leg - when to amputate?

Introduction. Inherited epidermolysis bullosa comprises a heterogeneous group of genetic disorders characterized by skin fragility, resulting in blisters, erosions, and scaring of the skin and mucous membranes following minimal mechanical trauma. Patients with inherited epidermolysis bullosa are at increased risk of developing aggressive cutaneous squamous cell carcinoma, most commonly arising on the extremities. Case Report. We report a case of a 21-year-old female with inherited epidermolysis bullosa who presented with a progressively enlarging tumor on the right lower leg, appearing as a small crusted lesion. Physical examination revealed a firm, elevated lesion measuring approximately 10 cm in greatest diameter, covered with crusts. The patient had previously undergone two surgical excisions the same site for confirmed cutaneous squamous cell carcinoma. Radiological evaluation demonstrated no evidence of bone invasion, while ultrasonography identified a single enlarged lymph node in the right inguinal region. Partial biopsy of the lesion confirmed cutaneous squamous cell carcinoma, and lymph node biopsy revealed reactive lymphadenitis without metastatic involvement. Considering the presence of typical lesions throughout the body, the patient?s inability to achieve verticalization, limited reconstructive options, and repeated recurrence of aggressive carcinoma, limb amputation was considered the most appropriate therapeutic approach. Conclusion. In patients with inherited epidermolysis bullosa who develop recurrent cutaneous squamous cell carcinoma, particularly after multiple local recurrences and in the absence of feasible reconstructive options, amputation may represent an unavoidable yet life-preserving treatment strategy, even in the setting of localized disease.