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Papers of the Week

2018 Aug

J Assoc Physicians India



Neurofibromatosis Type 1 Associated with Hashimoto’s Thyroiditis.


Kumar S SS, Palaniandavan S, Bhargavi MV, Gambeer SA, Nithyalakshmi G
J Assoc Physicians India. 2018 Aug; 66(8):91-92.
PMID: 31324096.


Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and it often coexists with other autoimmune diseases, but Hashimoto's thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare. A 30-year-old woman presented with complaints of headache for 1 year on and off. Physical examination revealed nodular swelling in the neck, cafe-au-lait spots, and neurofibromas covering the entire surface of her body. Her thyroid hormones were within normal limits. Thyroid ultrasound revealed mild altered heterogeneous echo texture, multiple nodules of varying sizes, with hyper vascularity and ultrasound-guided fine needle aspiration cytology revealed lymphocytic infiltration of the gland, suggesting Hashimoto's thyroiditis. High levels of autoimmune antibodies such as antithyroglobulin and antimicrosomal antibodies confirmed the diagnosis. When encountering a patient with Neurofibromatosis type 1, the possibility of associated autoimmune diseases should be considered. So further studies of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future.