F18 FDG PET in a patient with epidermolysis bullosa and multifocal squamous cell carcinoma

Learning Objectives We propose to present an unusual case of epidermolysis bullosa undergoing F18 FDG PET scanning.

This is a 33-year-old patient who developed multifocal squamous cell carcinomas leading to an above-elbow-amputation of her left upper extremity. Patients with epidermolysis bullosa are at increased risk of developing skin cancer. Clinical exam may be challenging because of the underlying skin conditions and manifestations. As in her case, F18 FDG PET was used to attempt to define the areas at highest risk to be cancerous in nature. It showed multifocal cutaneous and subcutaneous FDG-avid lesions as well as pulmonary nodules, left subpectoral, axillary, and internal mammary lymphadenopathy. It also determined the depth of infiltration of the disease in certain areas not distinguishable through clinical exam for example left breast, left axilla, and chest wall. Epidermolysis bullosa is a rare chronic disease involving the skin and mucosal membranes with an increased lifetime risk of developing skin cancer. It is essential to diagnose neoplastic transformation in order to start appropriate treatment in a timely manner. F18 FDG PET may play a role in screening patients with suspicious skin lesions and detecting extent of disease in aggressive forms of this pathology