The association of neurofibromatosis and hyperparathyroidism

Association between atypical parathyroid adenoma and neurofibromatosis

“…Most of the reports describes parathyroid adenoma as the cause of hyperparathyroidism (16)(17)(18)(19). We found one case report of the association between NF1 and parathyroid carcinoma (20).…”

“…Some authors believe that there is a genetic link between the two diseases due to the similarity of bone lesions common to them (20). In 1979, Chakrabarti suggested that the association between NF1 and hyperparathyroidism was another variation of multiple endocrine neoplasia, MEN 2B (16). In a 1997 study in Sweden, it was shown that neuroendocrine tumors (including parathyroid adenoma, pheochromocytoma, and thyroid gland C-cell hyperplasia) made up 25% of all tumors that occurred in NF1 patients (21).…”

Water-Clear Cell Parathyroid Adenoma Causing Primary Hyperparathyroidism in a Patient with Neurofibromatosis Type 1: Report of a Case

“…10 Though 13 NF1 patients who developed primary hyperparathyroidism have been reported in the literature, none of them demonstrated water-clear cell adenoma. [7][8][9]11,12 The pathogenesis of parathyroid adenoma in NF1 patients has not yet been elucidated, but a genetic link has been suggested. Daly et al 11 described that their patients resembled Sipple's syndrome in that they had both parathyroid adenoma and neuroectodermal tumors (neurofi broma), which thus suggested the tumors to be genetically linked.…”

“…Daly et al 11 described that their patients resembled Sipple's syndrome in that they had both parathyroid adenoma and neuroectodermal tumors (neurofi broma), which thus suggested the tumors to be genetically linked. Chakrabarti et al 12 indicated that the occurrence of both NF1 and primary hyperparathyroidism might be another variation of multiple endocrine neoplasia type 2B. In addition, a population-based study in Sweden indicated that endocrine tumors (including parathyroid adenoma, pheochromocytoma, C-cell hyperplasia of the thyroid) accounted for 25% of all tumors that appear in patients with NF1.…”

Spontaneous Remission of Primary Hyperparathyroidism in a Patient with Neurofibromatosis Type 1: Case Report

“…Dayle et al [6] reported the first cases in the literature, and presented the hypothesis that there could be a genetic link between parathyroid adenoma (originating in endoderm) and NF1 (originating in neuroectoderm). However, Chakrabarti et al [13] interpreted the association as another variant of MEN type 2B.…”