Osteogenic sarcoma of the tibia in a patient with epidermolysis bullosa dystrophica

An osteogenic sarcoma of the tibia occurred in an eight-year-old boy with epidermolysis bullosa dystrophica hereditaria (EBDH) (Hallopeau-Siemens type). The patient had had the congenital skin disease since the time of birth. A painful swelling appeared in the proximal portion of his right tibia, which was diagnosed as osteogenic sarcoma on biopsy study. The patient died of massive pulmonary metastases and cachexia four months after the onset of the tumor. Osteogenic sarcoma in a patient with EBDH seems not to have been previously reported. EBDH has been known to be occasionally associated with squamous cell carcinoma. Whether an impairment of the patient's defense mechanism by the chronic skin disease might have enhanced the rapid progression of the associated bone malignancy is unknown.