Squamous cell carcinoma arising from congenital lymphedema

Congenital lymphedema is a rare type of primary lymphedema occurring at birth or developing shortly later. Primary lymphedema can be classified according to whether it is familial or sporadic. The primary congenital familial lymphedema is also known as Milroy's disease. Majority of primary cases are sporadic type. Chronic lymphedema can be secondary to infections, surgery with lymph node excision, trauma, lymphadenectomy, radiotherapy, filarial infection, and so on. It is recognized that a variety of malignant tumors can arise in chronic congenital or acquired lymphedema; the most documented associations are lymphangiosarcoma, basal cell carcinoma, lymphoma, malignant melanoma, and Kaposi's sarcoma. A total of 13 cases of squamous cell carcinoma arising from chronic (primary or acquired) lymphedema have been reported, and only 3 cases of congenital lymphedema presented with squamous cell carcinoma as reported. A 32-year-old young male presented with chronic unilateral left lower limb lymphedema of 28 years duration. In addition, he had a 3-month history of a fungating cutaneous lesion on the lateral side measuring 2 cm × 1 cm in size. Fine-needle aspiration cytology was performed on the later mass, and a diagnosis of angiosarcoma was made. At histopathology, the appearances did not confirm angiosarcoma. However, an impression of carcinoma was made as squamous cells were observed in sheets. Immunohistochemistry was performed using markers for CD31, factor VIII (FVIII), and MiB. The epithelial marker cytokeratin was positive for squamoid cells and MiB index of 75%. The vascular markers FVIII and CD31 were negative, thus ruling out angiosarcoma. The final diagnosis was given as infiltrating squamous cell carcinoma in chronic lymphedema.