Skeletal overgrowth with modelling error in neurofibromatosis

Congenital pseudarthrosis of the fibula and valgus deformity of the ankle in young children

“…Even though larger studies are needed to confirm this theory, we have looked for supporting elements in our patients and have noted hypertrophy of the distal fibular epiphysis (preoperatively and postoperatively), hypertrophy of the fibular head, and (in patient 1) distal 'migration' of the lateral malleolus caused by an effective downward thrust from the distal fibular growth plate, suggesting the contribution to longitudinal growth from this physis to be greater than normal, when compared with the contribution from the distal tibial physis. If we consider the strong association between congenital pseudarthrosis of the leg and neurofibromatosis [10], it is interesting to observe that alterations of growth and modelling in long bones are not uncommon in neurofibromatosis, even with deviations of the normal rules of polarity of growth [28].…”

Familial Neurofibromatosis-1 and Gilbert Syndrome

“…Long bones may undergo subperiosteal hyperostosis, and the shafts may be curved 33,34 . Erosion secondary to the tumor; osteomalacia secondary to genetic tubular defects; congenital variations such as macrocranium, spina bifida, or atlantooccipital fusion; and mesodermal dysplasias such as pseudoarthrosis, local gigantism, pedicle anomalies, scalloping of vertebrae and kyphoscoliosis, and hyperostosis of facial bones are the osseous changes 35 .…”

“…Constipation is often a chronic problem. Urinary obstruction caused by bladder involvement has been reported 34,36 . The bladder is the most commonly affected organ within the genitourinary system 7 .…”

Familial Neurofibromatosis-1 and Gilbert Syndrome

“…Long bones may undergo subperiosteal hyperostosis, and the shafts may be curved. 33,34 Erosion secondary to the tumor; osteomalacia secondary to genetic tubular defects; congenital variations such as macrocranium, spina bifida, or atlantooccipital fusion; and mesodermal dysplasias such as pseudoarthrosis, local gigantism, pedicle anomalies, scalloping of vertebrae and kyphoscoliosis, and hyperostosis of facial bones are the osseous changes. 35 Case 2 showed NF-related osseous deformities as subperiosteal hyperostosis and curving of the left tibia and fibula, which are not common as well.…”

“…Urinary obstruction caused by bladder involvement has been reported. 34,36 The bladder is the most commonly affected organ within the genitourinary system. 7 Two of the patients had retroperitoneal NF, a pathology infrequently seen.…”