Neurofibromatosis Type 1 Associated with Hashimoto’s Thyroiditis: Coincidence or Possible Link

Introduction. Hashimoto's thyroiditis is a common form of chronic autoimmune thyroid disease (AITD) and often coexists with other autoimmune diseases, but Hashimoto’s thyroiditis associated with an autosomal dominant neurofibromatosis type 1 is exceedingly rare.Case Presentation. A 30-year-old Bengali woman presented to the OPD with complaints of aching pain and tingling sensation in her hands and feet. Physical examination revealed dysmorphic facies, 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 a cystic area in the left lobe of the gland, 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.Conclusion. When encountered with a patient of Neurofibromatosis type 1, a physician should be careful about the possibility of a concomitant autoimmune disease. Clinical presentation of neurofibromatosis and Noonan syndrome often overlaps and recent studies have implicated a mutation in NF1 gene in the etiology of NFNS. More extensive reports and further investigations of such patients having combination of neurofibromatosis type 1 and autoimmune thyroiditis will certainly provide better understanding of this link in the near future.

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Endocrine Dysfunction in Neurofibromatosis Type 1 – An Update

Acta Medica Marisiensis ◽

10.1515/amma-2016-0003 ◽

2016 ◽

Vol 62 (1) ◽

pp. 155-158

Author(s):

Raluca-Monica Pop ◽

Radu Mircea Neagoe ◽

Melinda Kolcsar ◽

Ionela Paşcanu

Keyword(s):

Neurofibromatosis Type 1 ◽

Genetic Disorder ◽

Parathyroid Tissue ◽

Neurofibromatosis Type ◽

Needle Aspiration ◽

Autosomal Dominant Disorder ◽

Thyroid Lesion ◽

Neurogenic Tumors ◽

Multiple Neoplasms

AbstractBackground: Neurofibromatosis type 1 is an autosomal dominant disorder associated with multiple neoplasms particularly those of ectodermal origin. Various endocrine pathologies are often present, among them, hyperparathyroidism and follicular thyroid lesion are very rare described and their coincidence in the same patient has not been described in the literature reviewed.Subject: A 59-years-old woman with clinical manifestation of neurofibromatosis type 1 developed dysphagia, dysphonia, choking sensation. Physical and imagistic examination revealed a multinodular goiter with microfollicular lesion on fine needle aspiration biopsy (FNAB), elevated parathormone levels and severe osteoporosis. The surgically removed thyroid contained a nodule with follicular architecture of uncertain malignant potential; the parathyroid tissue appeared normal.Discussion and conclusion: This case serves as a reminder to look for non-neurogenic tumors in patients with neurofibromatosis. Clinicians must be aware of the diverse clinical features of this genetic disorder.

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Autoimmune comorbidities in Hashimoto’s thyroiditis: different patterns of association in adulthood and childhood/adolescence

Acta Endocrinologica ◽

10.1530/eje-16-0737 ◽

2017 ◽

Vol 176 (2) ◽

pp. 133-141 ◽

Cited By ~ 42

Author(s):

R M Ruggeri ◽

F Trimarchi ◽

G Giuffrida ◽

R Certo ◽

E Cama ◽

...

Keyword(s):

Autoimmune Diseases ◽

Hashimoto’S Thyroiditis ◽

Skin Diseases ◽

Connective Tissue Diseases ◽

Cross Sectional Study ◽

Hashimoto's Thyroiditis ◽

Cross Sectional ◽

Autoimmune Thyroid ◽

Adult Age

Objective Hashimoto’s thyroiditis (HT), the most common autoimmune thyroid disease at any age, is often associated with other autoimmune diseases. The present study was aimed to describe the type and frequency of non-thyroidal autoimmune diseases (NTADs) in HT patients and to delineate the clinical pattern of diseases clustering in pediatric/adolescent and adult age. Design Cross-sectional study. Methods 1053 newly diagnosed HT patients (500 adults (467 F, mean age 40.2 ± 13.7 years) and 553 children/adolescents (449 F, mean age 11.1 ± 3.0 years)) were evaluated for common NTADs by means of careful recording of medical history, physical examination and assessment of selected autoantibody profiles. Results The prevalence of associated NTADs was significantly higher in adults than that in pediatric/adolescent HT patients (P < .0001). In addition, the number of adult patients suffering from two or more associated NTADs was significantly higher than that of children/adolescent (P < 0.0001). A female prevalence was evident in both cohorts, but was significant in the adults (P < 0.0001). The epidemiological distribution of NTADs was strongly different in the two cohorts, the most frequent associated diseases being arthropathies and connective tissue diseases in adults and type 1 diabetes and coeliac disease in children/adolescents. Skin diseases were represented with similar prevalence in both cohorts, vitiligo being the most common. Conclusions Age at HT presentation may influence autoimmune diseases clustering, favoring the association of specific NTADs in different ages of life. Moreover, the association between HT and NTADs increases with age and occurs most frequently in adults.

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Cytomorphologic spectrum of Hashimoto's thyroiditis and its clinical correlation: A retrospective study of 52 patients

CytoJournal ◽

10.4103/1742-6413.131741 ◽

2014 ◽

Vol 11 ◽

pp. 9 ◽

Cited By ~ 13

Author(s):

Shirish S. Chandanwale ◽

Charusheela R. Gore ◽

Sunita A. Bamanikar ◽

Nidhi Gupta ◽

Kanika Gupta

Keyword(s):

Thyroid Function ◽

Hashimoto’S Thyroiditis ◽

Lymphocytic Infiltration ◽

Needle Aspiration ◽

Clinical Findings ◽

Hashimoto's Thyroiditis ◽

Thyroid Peroxidase ◽

Follicular Hyperplasia ◽

Number Of Patients ◽

Antibody Profile

Background: Hashimoto's thyroiditis (HT) is an autoimmune disease and it is more prevalent in Asians. The incidence of HT seems to be increasing in the recent times. It is one of the most common cause of hypothyroidism. The purpose of this study is to review the cytomorphologic spectrum of HT and correlate it with clinical findings including thyroid function and antibody profile. Materials and Methods: We retrospectively analyzed the fine-needle aspiration (FNA) features of 52 HT patients. Based on cytomorphologic features patients were categorized into three groups. Clinical findings including thyroid function and thyroid peroxidase (TPO) antibody profile were correlated with cytomorphologic features in all three groups. Results: Majority of the patients were females and in 2nd, 3rd and 4th decades. Diffuse goiter and thyroid hypofunction were the common findings. Significant number of patients had thyroid hyperfunction. Increased lymphocytes on the background and lymphocytic infiltration of thyroid follicular cell clusters in cytology smears were diagnostic of HT. The 32 patients showed elevated titers of TPO antibodies. In the early stages and mild form of the disease, results of thyroid function and anti TPO antibodies are quite variable. Conclusions: HT is a disease of young and middle age and mostly occur in females. Clinical findings alone may not be adequate for definitive diagnosis. FNA is the gold standard for diagnosis. In the presence of abundant colloid, follicular hyperplasia or co-existing neoplasm, careful interpretation of cytology smears should be done. Aspiration from more than one site minimizes the diagnostic pitfalls.

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