A case of an 8-year-old boy who was strongly suspected of suffering from familial angiolipomatosis

oleh: Yutaka Kanamori, Toshiko Takezoe, Masataka Takahashi, Natuko Nakano, Kentaro Matsuoka, Masayoshi Osaku

Format: Article
Diterbitkan: Elsevier 2015-06-01

Deskripsi

Familial angiolipomatosis is a rare inherited disease mainly diagnosed in the adult stage. It is usually inherited in an autosomal recessive manner; however, some cases of autosomal dominant mode of inheritance have been reported. The disease may be misdiagnosed as neurofibromatosis type I in some cases due to the similar feature of multiple subcutaneous soft masses. However, familial angiolipomatosis is not associated with malignant tumors and it is very important to distinguish these two conditions. We report here the rare case of a subcutaneous mass that was composed of fat tissues and some fibrous tissue with small venous vessels and capillaries in an 8-year-old boy whose father also has a long history of generalized multiple angiolipomas. These facts strongly suggest that the patient suffers from familial angiolipomatosis and careful follow-up is needed in the future.