Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France

Jalabert, Maud; Ferkal, Salah; Souberbielle, Jean‐Claude; Sbidian, É.; Mageau, Arthur; Eymard, Florent; Corvoisier, Philippe Le; Allanore, L.; Chevalier, Xavier; Wolkenstein, Pierre; Guignard, Sandra

doi:10.1007/s00223-021-00807-6

Cited by 6 publications

(12 citation statements)

References 37 publications

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“…In general, the BMD of the patient was low indicating osteopenic defects. This finding was in consistence with the studies of Heerva [ 13 , 15 ] and Lammert [ 14 ], in which decreased BMD occurred among patients with NF1 [ 14 ] and was accompanied by low bone quality and persistent osteopenia in young patients [ 15 ] resulting in generalized bone alteration and osseous dysplasias [ 14 ]. Similarly, Jalabert et al [ 13 ] reported that low BMD in NF1 patients was 3.3 times more frequent compared to general population.…”

Section: Discussionsupporting

confidence: 87%

“…This finding was in consistence with the studies of Heerva [ 13 , 15 ] and Lammert [ 14 ], in which decreased BMD occurred among patients with NF1 [ 14 ] and was accompanied by low bone quality and persistent osteopenia in young patients [ 15 ] resulting in generalized bone alteration and osseous dysplasias [ 14 ]. Similarly, Jalabert et al [ 13 ] reported that low BMD in NF1 patients was 3.3 times more frequent compared to general population. In the same study, hypophosphatemia was detected in 12 women with NF1 but it was correlated with secondary hyperparathyroidism, and not to oncogenic HO, as it was linked to low calcium intake and Vitamin D deficiency [ 13 ].…”

Section: Discussionsupporting

confidence: 87%

“…NF1 is also accompanied by several osseous and skeletal manifestations, including macrocephaly, short stature, sphenoid wing dysplasia, scoliosis, congenital pheudarthrosis of the long bones [ 10 , 11 ], and increased fracture risk [ 12 ]. Furthermore, various research studies reported that 20–50% of pediatric and adult patients with NF1 presented with reduced bone mineral density (BMD) or osteoporosis [ 13 , 14 , 15 ]. Reduced levels of Vitamin D and increased concentrations of parathyroid hormone (PTH), calcium, and bone turnover markers, like tartrate resistant acid phosphatase, were detected in the serum of NF patients with low BMD [ 16 , 17 ].…”

Section: Introductionmentioning

confidence: 99%

“…Hypophosphatemia linked to secondary hyperparathyroidism due to Vitamin D deficiency and low calcium intake has been reported as a risk factor for low BMD in NF patients [ 13 ]. However, reports of NF1 associated oncogenic hypophosphatemic osteomalacia (HO) are extremely rare [ 13 ]. This article describes a NF1 patient diagnosed with HO associated with intracranial gliomas and congenital renal agenesis.…”

Section: Introductionmentioning

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: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 87%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

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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“…Two striking aspects of neurofibromatosis 1 are its progressive nature and its extreme variability[ 28 ]. Nf1 regulation of metabolism may affect other tissues, like bones[ 29 ]. There is an increased risk of osteoporosis and an abnormal bone turn over in NF1.…”

Section: Discussionmentioning

confidence: 99%

Familial left cervical neurofibromatosis 1 with scoliosis: A case report

Mu¹,

Zhang²,

Shen³

et al. 2021

WJCC

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BACKGROUND Neurofibromatosis type 1 (NF1) is an inherited autosomal dominant disorder affecting many parts of the body with café au lait spots, skeletal deformity, and scoliosis. A familial case of NF1 with scoliosis and a painless mass had not yet been reported. CASE SUMMARY We describe the case of a 15-year-old male patient with a painless lump on the left side of his neck for 10 years and scoliosis. His right shoulder was about 5 cm lower than the left, the left side of his face was deformed, and the left submandibular skin was relaxed. The folding and drooping were obvious and movement was poor. Computed tomography revealed the involvement of the neck, upper chest wall, and surrounding left shoulder, accompanied by bone changes and scoliosis. Histological evaluation showed subepidermal pale blue mucoid degeneration, fibrous fusiform cells in the dermis in a fascicular, woven arrangement. His mother had the same medical history. The diagnosis was neurofibromatosis of the left neck. Various parts of the tumor tissue were serially resected during several visits. Eight months after surgery, there was a slight tendency to regrow. CONCLUSION This case of slow-progressing NF1 highlights the importance of early diagnosis and treatment to reduce its impact on the patient’s growth and development.

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Bone Mineral Density in Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis

et al. 2023

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Bone Status According to Neurofibromatosis Type 1 Phenotype: A Descriptive Study of 60 Women in France

Cited by 6 publications

References 37 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

Familial left cervical neurofibromatosis 1 with scoliosis: A case report

Bone Mineral Density in Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis

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