Maladie de recklinghausen avec hypophosphorémie et ostéomalacie

Wattiaux, M. J.; Vernejoul, M. C. De; Blëtry, O.; Ulmann, André; Rondier, J; Godeau, P

doi:10.1016/s0248-8663(85)80031-x

Cited by 6 publications

(5 citation statements)

References 18 publications

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“…Multiple myelomas, hemangiopericytomas, osteosarcomas, chondroblastomas, chondrofibroid myxomas, malignant fibrous histiocytomas, giant cell tumors, and prostatic cancers are entities that were associated with adult-onset HO [ 20 , 21 ]. NF1 has been implicated with HO very rarely ( Table 1 ) [ 22 , 23 , 23 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. Despite the fact, that the association between NF1 and HO was described by Gould in 1918, <50 cases have been referred in the international literature [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

“…It has been reported that NF1 patients display several skeletal manifestations and deformities [ 10 ]. Bone pains, located on the feet and lower limbs as well as muscle weakness, bowing of long bones, pseudofractures, fractures, kyphoscoliosis, and triradiate pelvis, were the most common described defects ( Table 1 ) in NF1 patients with HO [ 22 , 23 , 23 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. In our case, generalized bone pains, weakness of the proximal muscles, thoracic scoliosis, mild bowing of long bones of lower limbs, stress fractures, and old healed fractures accompanied by altered bone remodeling serum markers were observed.…”

Section: Discussionmentioning

confidence: 99%

“…Interestingly, stress fractures of the distal tibia and fibula were clinically presented with feet and ankles pain, tenderness, and inability to weight bear. Similarly, NF1 patients with HO ( Table 1 ) had low BMD suffering from diffuse osteopenia [ 27 , 30 ] or osteoporosis [ 25 , 28 , 33 ] and bone demineralization [ 29 , 33 ]. In our report, plain radiographic figures revealed generalized demineralization of the long bones of the lower limbs.…”

Section: Discussionmentioning

confidence: 99%

“…Recently, the implication of fibroblast growth factor 23 or FGF-23 in the pathogenesis of NF1 bone defects with HO was proposed. Specifically, it was suggested that the elevated secretion of FGF-23 from neurofibromin-deficient osteocytes resulted in mineral defects and an osteomalacia – like bone phenotype [ 33 ]. Indeed, in conditional knockout for neurofibromin mice model, it was observed that primary osteocytes showed remarkable increase in the expression of FGF-23 in the serum and in the femur [ 32 ].…”

Section: Discussionmentioning

confidence: 99%

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Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Kaspiris¹,

Vasiliadis²,

Melissaridou³

et al. 2022

JOCR

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Introduction:Neurofibromatosis Type 1 (Nf1), also termed von Recklinghausen disease, is a rare autosomal dominant genetic disorder accompanied by several osseous and skeletal manifestations. In NF, hypophosphatemia linked to secondary hyperparathyroidism due to Vitamin D deficiency and low calcium intake has been reported as a risk factor for low bone mass density (BMD), but reports of NF1 associated oncogenic hypophosphatemic osteomalacia (HO) are extremely rare. Case Report: We report a patient with NF1 associated with intracranial low-grade gliomas and congenital renal agenesis suffering from HO. Bone defects and deformities such as generalized bone pains located in feet, ankles and lower limbs, thoracic scoliosis, mild bowing of long bones of lower limbs, stress fractures, and old fractures as well as with altered bone metabolic serum markers were present. After 8 weeks of follow-up, it was observed that the combination of oral administration of phosphate and Vitamin D improved her medical symptoms without significant changes in phosphate levels or BMD. Conclusion: Although renal agenesis is not correlated with hypophosphatemia, the coexistence of NF1, renal congenital deformities, and low-grade gliomas may contribute to disease severity. Conventional treatment with high doses of oral calcitriol associated with phosphate is efficient to improve the clinical and laboratory symptoms of the disease. Keywords: Bone pains, scoliosis, bone mass density, stress fractures, vitamin D.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Kaspiris¹,

Vasiliadis²,

Melissaridou³

et al. 2022

JOCR

View full text Add to dashboard Cite

show abstract

“…HO is a paraneoplastic syndrome that is accompanied by hypophosphataemia, hyperphosphaturia secondary to reduced proximal renal tubular phosphate reabsorption, and low or inappropriate normal levels of serum vitamin D. Moreover, serum concentrations of calcium and parathormone (PTH) were in normal levels, while calcium levels in urine were low [50]. NF1 patients with HO had low BMD, suffering from diffuse osteopenia [42,51] or osteoporosis [52][53][54] and bone demineralization [54,55] associated with several skeletal defects, such as scoliosis, kyphosis, bowing of long bones, pseudofractures, fractures and triradiate pelvis. The involvement of fibroblast growth factor 23 (FGF23) in the pathophysiology of NF1 bone defects with HO has also been proposed.…”

Section: Bone Metabolism In Nf1mentioning

confidence: 99%

Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1

Kaspiris

Savvidou

Vasiliadis

et al. 2022

JCM

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Neurofibromatosis type 1 (NF1), which is the most common phacomatoses, is an autosomal dominant disorder characterized by clinical presentations in various tissues and organs, such as the skin, eyes and nervous and skeletal systems. The musculoskeletal implications of NF1 include a variety of deformities, including scoliosis, kyphoscoliosis, spondylolistheses, congenital bony bowing, pseudarthrosis and bone dysplasia. Scoliosis is the most common skeletal problem, affecting 10–30% of NF1 patients. Although the pathophysiology of spinal deformities has not been elucidated yet, defects in bone metabolism have been implicated in the progression of scoliotic curves. Measurements of Bone Mineral Density (BMD) in the lumbar spine by using dual energy absorptiometry (DXA) and quantitative computer tomography (QCT) have demonstrated a marked reduction in Z-score and osteoporosis. Additionally, serum bone metabolic markers, such as vitamin D, calcium, phosphorus, osteocalcin and alkaline phosphatase, have been found to be abnormal. Intraoperative and histological vertebral analysis confirmed that alterations of the trabecular microarchitecture are associated with inadequate bone turnover, indicating generalized bone metabolic defects. At the molecular level, loss of function of neurofibromin dysregulates Ras and Transforming Growth factor-β1 (TGF-β1) signaling and leads to altered osteoclastic proliferation, osteoblastic activity and collagen production. Correlation between clinical characteristics and molecular pathways may provide targets for novel therapeutic approaches in NF1.

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Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis

Weinstein

Harris

1990

Calcif Tissue Int

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Neurofibromatosis is sometimes complicated by impaired renal tubular reabsorption of phosphate, hypophosphatemia, and osteomalacia. Hyperparathyroidism has also been reported in patients with neurofibromatosis. When hypercalcemia and elevated levels of parathyroid hormone are found in osteomalacia, however, it may be difficult to determine if the hyperparathyroidism was primary or tertiary. We describe a patient with neurofibromatosis, hypercalcemic hyperparathyroidism, hypophosphatemic osteomalacia, vitamin D deficiency, and clear-cell hyperplasia of all four parathyroid glands. Serial biomechanical, bone biopsy, and densitometric studies confirmed that treatment with ergocalciferol, calcium, and phosphate supplements significantly improved the osteomalacia but caused increased parathyroid overactivity. After subtotal parathyroidectomy, the parathyroid hormone concentration became normal and the bone mineral content increased at the spine and hip, but inappropriate phosphaturia persisted. The findings indicate that hyperparathyroidism, osteomalacia, and vitamin D deficiency adversely affect each other.

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Maladie de recklinghausen avec hypophosphorémie et ostéomalacie

Cited by 6 publications

References 18 publications

Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Hypophosphatemic osteomalacia in neurofibromatosis 1 associated with intracranial gliomas and congenital renal agenesis: A rare case report and review of the literature

Current Aspects on the Pathophysiology of Bone Metabolic Defects during Progression of Scoliosis in Neurofibromatosis Type 1

Hypercalcemic hyperparathyroidism and hypophosphatemic osteomalacia complicating neurofibromatosis

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