Extra-abdominal desmoid fibromatosis: two familial cases with synchronous and metachronous multicentric hyalinizing...

Extra-abdominal desmoid fibromatosis is an uncommon tumour. We present here two exceptional familial cases of extra-abdominal desmoid fibromatosis, one of which was synchronous and metachronous.

The first patient was a 37-year-old woman who had noted a tumour growing on the dorsum of her right foot when she was 12 years old. She underwent excision of the tumour but in the following year the tumour recurred locally and grew into multiple nodules. Subsequently, multicentric tumours appeared in her knee, distal and posterior aspects of her thigh, right back and right anterior shoulder. Polyostotic fibrous dysplasia of the femur and cranium was found on radiological examination. The second patient was a 74-year-old man, the uncle of the first patient. He underwent an excisional operation of a tumour on the internal malleolus surface of his fibula when he was 46 years old. The tumour recurred 7 years later and was excised. His post-operative course has been uneventful. The histology of the primary and recurrent tumours was distinctive and consistently showed hyalinizing scar-like features.

Familial cases of extra-abdominal desmoid fibromatosis with extensive multicentric lesions and distinctive hyalinizing scar-like features are described. Recently, attenuated familial adenomatous polyposis with familial desmoid fibromatosis has been recognized, and familial desmoid fibromatosis without adenomatous polyposis may also be one of its variants. Although the present cases have no history of colon polyposis or carcinoma, monitoring of the intestinal tract would seem to be indicated.