Neurofibromatosis, gigantism, elephantiasis neuromatosa and recurrent massive subperiosteal hematoma : A new case report and review of 7 case reports from the literature

• Published in: Acta orthopaedica belgica Vol. 67; no. 2; pp. 168 - 172
• Main Authors: STEENBRUGGE, F, POFFYN, B, UYTTENDAELE, D, VERDONK, R, VERSTRAETE, K
• Format: Journal Article
• Language: English
• Published: Bruxelles Acta medica belgica 01.04.2001
• Subjects: Adolescent; Amputation; Biological and medical sciences; Diseases of the osteoarticular system; Elephantiasis - complications; Elephantiasis - pathology; Elephantiasis - surgery; Female; Gigantism - complications; Gigantism - pathology; Gigantism - surgery; Hematoma - pathology; Hematoma - surgery; Humans; Leg - pathology; Leg - surgery; Medical sciences; Miscellaneous. Osteoarticular involvement in other diseases; Neurofibromatoses - complications; Neurofibromatoses - pathology; Neurofibromatoses - surgery; Neurology; Periosteum - pathology; Recurrence; Tumors of the nervous system. Phacomatoses; Endocrinopathy; Skin disease; Prognosis; Diseases of the osteoarticular system; Lower limb; Cardiovascular disease; Neurofibromatosis Recklinghausen; Vascular disease; Association; Tibia; Complication; Benign neoplasm; Child; Human; Nervous system diseases; Gigantism; Phacomatosis; Effusion; Elephantiasis; Recurrent; Trauma; Lymphatic vessel disease; Genetic disease; Case study; Symptomatology; Treatment; Pituitary diseases; Hematoma; Bibliographic review
• ISSN: 0001-6462

The authors report the case of a 13-year-old patient with neurofibromatosis (NF-I), who suffered blunt trauma to the left tibia in 1993. The diagnosis of subperiosteal hematoma was made. Treatment consisted of temporary rest. There was a recurrence in 1996, and the subperiosteal hematoma was drained. In 1997, a shortening osteotomy of the left tibia was performed. However, massive gigantism with elephantiasis of the left leg remained, causing a serious functional and cosmetic problem. In 1999, the leg was amputated above the knee. The literature is reviewed and 7 case reports are compared. The pathogenesis of subperiosteal hematoma is discussed.