Xeroderma Pigmentosum: An Uncommon Risk Factor for Aggressive Follicular Thyroid Carcinoma

Abstract

Abstract Introduction: Follicular thyroid carcinoma (FTC) is the second most common thyroid cancer, which typically presents in an older populations, and carries a near 100% 5-year relative survival rate if diagnosed prior to cancer spreading outside of the thyroid. Clinical Case: A 26-year old female presented to emergency room with persistent jaw pain, despite course of antibiotics prescribed by dentist. She has a past medical history of xeroderma pigmentosum (XP) with over 130 surgeries for malignant skin lesions, as well as benign multinodular goiter for which she underwent total thyroidectomy at the age of 18, with pathology reporting benign tissue and follicular adenoma. Emergency room imaging of maxillofacial/sinus incompletely captured a mass in the left paratracheal region, extending into the lumen of the trachea. Patient was then transferred to University Hospital for further evaluation. Dedicated neck imaging confirmed 4.6cm mass in expected area of thyroid gland, invading into left tracheal wall, cervical esophagus, and hypopharynx. Additional imaging revealed numerous pulmonary nodules, and a 4mm enhancing focus of left superior temporal gyrus. Nuclear positron emission tomography imaging revealed regions of hypermetabolic activity in the left maxillary sinus, the facial nodules, cervical lymph nodes, and mass like region of hypermetabolic activity in the thyroid bed. Biopsy confirmed follicular thyroid parenchyma, concerning for follicular carcinoma. Patient then underwent mass resection and tracheostomy. Some thyroid tissue was left on contralateral side to malignancy due to adjacency to only functional recurrent laryngeal nerve. Pathology following surgery confirmed follicular thyroid carcinoma, with evidence of angioinvasion. Thyroglobulin mass spectrometry prior to surgery was 302 ng/mL. Conclusion: While it is well known that patients with XP suffer from early development of mucocutaneous and ocular cancers in sun-exposed areas, these patients also have increased risk for multinodular goiter as well as internal malignancies. Furthermore, treatment of any internal malignancy is limited due to inability for patients with XP to be treated with radiation. Providers for patients with XP should have very low thresholds to investigate all new symptoms aggressively, maximizing chances of diagnosing malignancies in early stages.