| Disclaimer: The information contained within the Grand Rounds Archive is intended for use by doctors and other health care professionals. These documents were prepared by resident physicians for presentation and discussion at a conference held at Baylor College of Medicine in Houston, Texas. No guarantees are made with respect to accuracy or timeliness of this material. This material should not be used as a basis for treatment decisions, and is not a substitute for professional consultation and/or peer-reviewed medical literature. Thyroglossal Duct Cyst Today we are going to talk about thyroglossal duct cysts, and welcome to today’s grand rounds from Baylor College of Medicine and Texas Children’s Hospital. We are going to cover a number of aspects of thyroglossal cysts, including the embryologic basis of this disease process and its different diagnoses, how to evaluate them, the sort of complications to be concerned about, and how to manage them. Today’s case deals with a 7-year-old Indian male. We were consulted to evaluate him for a painful midline neck mass. It had been present for three days and had been causing him some difficulty swallowing. It was not causing any respiratory difficulty, and he had no hoarseness. Upon further evaluation, we found that he has had this midline mass for almost two years. He has had a history of multiple infections. The mass comes and goes. He has had no evidence of hyper- or hypothyroidism. He had an initial ultrasound done two years ago with a diagnosis of thyroglossal duct cyst; but when he was taken to the OR, neck exploration done at that time was negative. He has since undergone three incision and drainage procedures for his infections. On physical examination, we find a 4 cm cystic, fluctuant mass in the midline of the neck. It is warm, tender, and it is mobile with swallowing. The floor of mouth and base of tongue are soft with no lesions. He has no cervical lymphadenopathy, and his thyroid gland is not palpable. On imaging and pathology, we find an ultrasound of the neck that gives us a 2.5 cm loculated thyroglossal duct cyst, and it shows a normal thyroid gland. CAT scan of the neck is very similar with a 1.8 x 1.2 cm cyst on the midline of the neck with a left paramedian extension. An FNA is performed that reveals no evidence of malignancy. This is the patient’s CAT scan. As you can see, up at the level of the hyoid bone, the mass has this left paramedian component, and then as you progress inferiorly, it moves itself to the midline. It is a very well circumscribed cystic structure, and there is no evidence of lymphadenopathy or really any other abnormalities, in fact. To understand thyroglossal duct cysts, you have to understand the embryology of the head and the neck, which is based in the pharyngeal arches, pouches, and clefts. These are divisions of mesenchymal tissue that appear at about the fourth and fifth week of development. Of importance, each one has an associated artery, nerve, and piece of cartilage; and each pharyngeal arch is separated from the next by a pharyngeal cleft, and eventual little outpouchings of tissue will form that will become the pharyngeal pouches. These subdivisions of tissue are going to form the foundation of the head and the neck. This is a scanning electron micrograph in Larsen’s Textbook of Embryology showing what they actually look like. It is pretty interesting. They are very, very small structures and key to understanding what happens. The embryology of the tongue is also important to understand. The tongue comes from the first four pharyngeal arches. It starts off as two lateral lingual swellings that developed from the first pharyngeal arch. These progress medially towards the midline and push the tuberculum impar, another piece of mesenchymal tissue, from the first pharyngeal arch posteriorly. As the tuberculum impar moves posteriorly, it comes into contact with the copula, a piece of mesenchymal tissue from the pharyngeal arches II through IV. In the adult, the foramen cecum represents the junction of the tuberculum impar and the copula in the embryo. From this junction, the adult foramen cecum, an epithelial outpouching forms that will become the thyroid gland. It descends down the midline of the neck anterior to the hyoid bone to the larynx and comes to rest in its final position at around the seventh week of development. It is functional by the third month of development. During this process, it remains attached to the tongue by the thyroglossal duct, a tract leading from the foramen cecum to the final resting position of the thyroid gland. This duct usually atrophies by about week 10 of development. This is a slide taken from Dr. Ellis’ study. Dr. Ellis and colleagues in the late '70s did sections of 30 embryonic larynxes and 200 adult larynxes to study the development of the thyroglossal tract. The take-home point is that the thyroglossal tract remains anterior to the hyoid bone during its development, as can be seen by this six-week-old embryo. Here you see the epiglottis, the hyoid bone, and the cricoid cartilage, and the thyroglossal tract remaining anterior to it. This an adult with thyroglossal duct cyst, and you can see how the thyroglossal tract remains anterior to the hyoid bone and then progresses down to lead to the thyroglossal duct cyst. This slide, I think, helps understand some of the earlier conceptions of the thyroglossal tract made sometimes posteriorly to the hyoid bone. You can see if you take a cross-section of this larynx and looked at only one slide, it could look like the tract was actually posterior to the bone, but it is not. It passes anterior and can scoop underneath and behind it to give the impression that it actually lays posteriorly. Now, when the thyroglossal tract fails to obliterate at week 10, you can end up, as an adult, with a cystic dilatation of this tract that will result in a midline neck mass that is a thyroglossal duct cyst. This cyst can lie anywhere along the tract of development—from the foramen cecum all the way down to the resting position of the thyroid gland. Of interest, about 50% of the population has a pyramidal lobe of the thyroid, and the pyramidal lobe of the thyroid is the most common remnant of the thyroglossal tract. This is what one of these looks like. It is a fairly well circumscribed midline cyst. They can actually grow to become quite large. This was a patient treated at the LaHaye Clinic in 1930, with a very large thyroglossal duct cyst, so it can be a pretty impressive problem to have. Basic Overview. It is the most common congenital neck mass to have. It has a 7% population prevalence. The vast majority of patients that have these are very young. Almost half of them are less than 10 years old. There is an equal gender distribution, and they are usually asymptomatic. In terms of geography, the vast majority of them occur in close proximity to the hyoid bone. Over 60% of them lie just inferior to the hyoid bone at about the level of the thyroid cartilage, whereas another 24% of them lie just above the hyoid bone. That is where you are going to find these most commonly. Histologically, you see a well-defined cyst with an epithelial lining. It can be either squamous or respiratory epithelium. In this case, it is a ciliated respiratory epithelium. You can also sometimes find islands of thyroid tissue lying in the walls of these cysts, and the cysts will usually be filled with some sort of mucoid or mucopurulent material, depending on whether or not the cyst has been infected. Differential diagnosis for them—the most common item in the differential is going to be the dermoid cyst, as is shown on this slide, but there are plenty of other things that can happen—lymphadenopathy, sebaceous cysts, and then other usually benign and fairly uncommon cysts or masses in the neck, like schwannomas and lymphatic malformations. Now, as is pointed out by the case today, sometimes you can have left paramedian components of this thyroglossal duct cyst, and so lateral neck masses also have to be considered when evaluating thyroglossal duct cysts, such as teratomas and branchial cleft cysts. Evaluation of thyroglossal duct cysts. The main foal in the evaluation of any medical problem is that you want to accurately diagnose it and assess for complications. So what do we want to look for when evaluating a thyroglossal duct cyst? The four main complications are going to be infection, local growth and invasion, carcinoma, and thyroid ectopia. You start with a good History of Present Illness, and you can ask questions about pain, redness, fluctuant discharge to look for infection, and you want to ask about symptoms of hypo- and hyperthyroidism to screen patients for thyroid ectopia. On physical exam, look for the presence of other neck masses. Lymphadenopathy may suggest a malignant process, and the pathopneumonic sign of a thyroglossal duct cyst is that the cyst moves with tongue protrusion. This makes sense if you think about the embryologic basis of these masses. They have a cystic tract remnant attaching them to the foramen cecum at the base of the tongue; so when the tongue moves, the mass moves. Laboratory analysis can include a CBC if you are worried about infection; a thyroid function test if you are worried about thyroid ectopia. Ultrasound is the gold standard for imaging of TGDC and is done in almost every patient with this condition today. You can see a cystic mass in the midline, as is shown right here. It can be hyperechoic, isoechoic; it really varies. You can see in this case, it is lying right above the hyoid bone. Computed tomography can also be helpful in evaluating for lymphadenopathy and other anatomic abnormalities in the neck, and then you can also do a thyroid scan. This is an example of a patient with a lingual thyroglossal duct cyst in an area of thyroid ectopia lying in this thyroglossal cyst. Infection is probably the most common complication with these masses. A take-home message for that is that they are managed with antibiotics and needle aspiration. You do not ever want to do an incision and drainage on these infected thyroglossal duct cysts, because it can complicate future management. Having more than two infections can have a negative impact on thyroglossal duct cysts, and it could increase the risk of recurrence. Even worse is doing incision and drainage, which will also complicate future management by generating scarring and creating abnormal tissue planes, making future dissection difficult. Local growth and invasion is extremely uncommon but can occur. In 2003, Thompson Associates reported a series of three different thyroglossal duct cysts lying within the hyoid bone. You can also have intralaryngeal extension. Levin and colleagues, in 2001, did a retrospective review of literature and found eight cases of intralaryngeal extension of thyroglossal duct cysts presenting with hoarseness. There have also been two cases reported in the literature of thyroglossal duct cysts creating large lingual masses and being associated with sudden infant death syndrome. So, while not common, it is a very serious problem that needs to be addressed. Carcinoma is probably the most dreaded complication of a thyroglossal duct cyst. It is extremely rare, which is good news. It only occurs in about 1% to 2% of patients with this disorder. It was first reported in 1910 in the European literature by Ucherman, and it finally made it into the English literature in 1927 by Dr. Owen and colleagues. There have been approximately 110 cases of malignant degeneration of thyroglossal duct cysts reported in literature. General information on it—the mean age of patients with malignant degeneration is 39.2 years of age, which is interesting because a vast majority of patients with this disorder are pediatric; but those that have carcinoma tend to be adults. Almost a third of patients with thyroglossal duct cyst carcinoma are going to have a concomitant carcinoma in the thyroid gland itself; but even as such, there is excellent long-term survival from thyroglossal duct cysts as there is also with primary thyroid carcinoma. So, what do you find with thyroglossal duct cyst carcinoma? You find your usual midline neck mass. It can be more irregular, but it is still a midline cystic neck mass. The thing that really gives it away is that you are going to have cervical lymph node metastases on physical examination or imaging. Under the microscope, you are going to see tumor cells with local tissue invasion. On the left, you see invasion of the hyoid bone, and you see invasion of the capsule as well to diagnose a malignant thyroglossal duct cyst. Histologically, pretty much every histologic variant of thyroid carcinoma has been represented. Most of these are papillary—80% to 85% of them. About 6% of them are follicular. There have been fewer than 10 cases of squamous cell carcinoma in thyroglossal cysts reported in literature, but it does occur. There have been four cases of Hürthle cell carcinoma, including one reported by Dr. Johnson from the VA here in 1991. Anaplastic carcinoma has also been found. Of importance to note is there are no cases reported of medullary carcinoma. If you think about it embryologically, this makes a lot of sense. Medullary carcinoma comes from the parafollicular or C cells, which generate from the ultimobranchial bodies, not from the pharyngeal arches which give rise to your normal thyroid tissue. So, it would not make any sense to find medullary carcinoma in a thyroglossal duct cyst. Treatment of it is fairly controversial. These are the treatments used from order of least controversial to most controversial. For the moment, you are going to agree that a Sistrunk procedure should be done. It is mandatory; it is standard of care. Neck dissection can be done in cases of known malignant degeneration. Thyroid suppression therapy, although there are not good studies on its outcomes, is fairly well accepted standard of care and is done by most practitioners. Thyroidectomy and radioactive iodine are the controversial items. Kennedy and Patel both did very large retrospective chart reviews of patients with thyroglossal duct cyst carcinoma, both studying over 60 patients. Kennedy recommended that you do a thyroidectomy, and Patel recommended that you do not. The logic behind Kennedy recommending that you do a thyroidectomy is that for future management, doing thyroid scans and treatment with radioactive iodine, you are not going to have a normal thyroid gland around to confuse the issue. Patel’s argument was that survival from a primary thyroid carcinoma is excellent, and there are complications associated with doing it, and it is just not worth the risk. The take-home message is that there really is no consensus on what to do. XRT can also be used in cases of squamous cell carcinoma. This is a chart of the 10-year survival rate taken from Dr. Patel’s study. There are two things that I want to emphasize on here. There is a statistically significant association or increase in 10-year survival for doing a Sistrunk operation as opposed to simple excision alone. Although there were not enough cases to produce a significant key value, the histology on the actual thyroidectomy specimen can also have an impact on survival. If the thyroid is benign, 100% of her patients that she reviewed in charts survived, whereas only 66% of them had a 10-year survival with a carcinoma in the thyroid gland itself. Thyroid ectopia is the final complication in what to look for. About 10% of the population has ectopic thyroid tissue, and usually it is going to be in the lingual area. In terms of thyroglossal duct cysts, fewer than 5% of them actually have ectopic thyroid tissue, but when it does occur, it is a very important preoperative consideration, and here is why. This is an example of a patient with a thyroglossal duct cyst with the ectopic thyroid tissue in that thyroglossal cyst being their only source of functioning thyroid tissue. If you went in and did a thyroglossal duct cyst excision and did a Sistrunk on this patient without knowing that the ectopic thyroid tissue in there was their only source of a thyroid gland, the patient would then end up being hypothyroid, could develop a myxedema coma, and would need to be on thyroid hormone supplementation for the rest of their life. So, how do you decide if someone is going to possibly have thyroid ectopia? Dr. Friedman produced a case series when she was at Massachusetts General of 230 patients with thyroglossal duct cysts, and this is an algorithm that came from this study. You start off with your comprehensive physical examination and history, and then you want to look to see if the patient is clinically euthyroid or if the patient has symptoms of hypothyroidism. If the patient is clinically euthyroid, you can proceed to laboratory testing with normal thyroid function tests. If these are normal, you are good to go. Go operate. If they are not, then you need to do a thyroid scan. If the patient is hypothyroid, you can also do a thyroid scan. There is also the role with FNA and frozen sections in the operating room if there is any uncertainty as to where you might be going with this. And then, there is also a role for ultrasound. Do an ultrasound of the neck. If you see a normal thyroid gland on neck ultrasound, then you are probably out the woods. The patient is going to have a functioning thyroid tissue to go with. Out of the case series from Dr. Friedman’s article, there were eight cases of patients with thyroid ectopia where the tissue into the thyroglossal cysts was their only functioning tissue. The take-home message from this slide is that hypothyroidism should really raise your suspicion of thyroid ectopia. Of the eight patients with it, five of them were clinically hypothyroid. So, you see a patient with hypothyroidism, you should think thyroid ectopia and want to proceed with a thyroid scan. Treatment. Fifty percent of these will recur if you only do simple excision alone. In 1893, Schlein proposed excision of the hyoid bone, the central portion of the hyoid bone based on the embryology of the gland. That dropped recurrence to 20%. In 1920, Dr. Walter Ellis Sistrunk produced a landmark article in which he described the Sistrunk procedure that includes dissection of the hyoid bone and the base of the tongue, and is still the procedure used today. So, how do you do a Sistrunk procedure? Based on the embryology of the thyroid gland, descending down anterior to the hyoid bone from the base of the tongue into the midline of the neck. The way you do it is you start off dissecting out your cyst under the hyoid bone and then you take a 45-degree angle down from the hyoid bone to the foramen cecum, taking out a cup of tissue from genioglossus and geniohyoid. You position the patient as for a thyroidectomy, and you make a transverse incision over the cyst. You are going to elevate your subplatysmal flaps. You will separate and, if necessary, divide the strap muscles. Next, the cyst can be identified, and the tract can be traced to the hyoid bone. The hyoid bone is skeletonized, and a central portion is excised. You then turn your dissection to a 45-degree angle and dissect out the core of tissue within the hyoid bone and the foramen cecum. You can ask the anesthesiologist or a surgical assistant to place their finger into the vallecula, applying anterior and inferior pressure, and this can help with the dissection and make it a little easier. But, it does not always have to be done. The defect that you are left with is shown right here on the slide on the left. You have a resected portion of the hyoid bone. You have your thyrohyoid membrane, and then a portion of mylohyoid has been taken out along with geniohyoid and genioglossus tissue. Your surgical specimen is shown here with the diagram of what is in each segment of it. You have your cyst and the tract leading up to it with the hyoid bone and the cuff of tissue within the base of the tongue. The Sistrunk procedure does have its fair share of major complications; although uncommon, they can be fairly morbid. Recurrence is by far the most common complication of doing a Sistrunk procedure. Hypothyroidism can also occur, as already mentioned. And fistulas can occur and can be quite morbid and difficult to deal with when they do occur. The other major complications—abscess, airway injury, tracheotomy, and nerve paralysis—are all complications that are associated with doing thyroidectomies. The minor complications are the same as can be found with almost any surgical procedure. Recurrence of these things deserves some special attention. It is relatively uncommon, but it can occur as much as 20% of the time, depending on what procedure was done. Major Risk Factors. Dr. Marianovsky in 2003 did a retrospective chart review—correction, he did actual case series—and they found four important risk factors. Age was a positive risk factor in that if a patient was older than two years, they had a significantly lower recurrence rate than more than two years old at time of presentation and operation. There were three negative risk factors: (1) number of infections before the surgery. If greater than two infections, you have a 50% recurrence rate. If you have had a preliminary procedure; for example, incision and drainage, a significant increase in recurrence rate; if you have pluricystic histology, significant increase in recurrence rate. (2) So, age—the older you are, the better you are. (3) Number of infections, prior surgical procedures, and pluricystic histology are all bad. Another point of view: Dr. Osling and colleagues did a series of 99 patients and found that of those who had recurrences, about 50% of them had postoperative infections. So, if you see a patient after thyroglossal cyst who has a postoperative infection, you need to have a high evidence of suspicion when looking for recurrence of this disease process. Management of a recurrent thyroglossal duct cyst is done with a central neck dissection. This is a diagram from Dr. Kim’s study that shows the progression of treatment for thyroglossal cysts from most conservative to least conservative. The extended Sistrunk for central neck dissection is found superior to the foramen cecum, inferiorly by the thyroid gland, and then laterally by the medial aspects of the sternocleidomastoid muscles and will include excision of strap muscles, which is not done with the standard Sistrunk procedure. So take-home points: thyroglossal cyst is the most common congenital cyst in the neck. Patholophysiology is based in the embryology of the thyroid gland, usually occurring in the pediatric age group. Carcinoma is more common in older patients. Complications include infection, local invasion, carcinoma, and thyroid ectopia. Carcinoma is usually papillary. Management can be controversial with regard to thyroidectomy, but long-term survival is, indeed, excellent. Thyroid ectopia must be ruled out prior to surgical resection. All patients require preoperative ultrasound to look for functioning thyroid tissue, to look for lymphadenopathy. Treatment is surgical, Sistrunk procedure. Recurrence is the most common complication and is managed with a central neck dissection. Case Presentation Over the next two years, the cyst recurred and became infected multiple times, and each time the patient was treated with antibiotics and either needle aspiration or incision and drainage. The cyst continued to cause the patient problems and our service was consulted to aid in the patient’s management during the course of his most recent infection. At that time, the patient had recently recovered from a URI and was suffering from a painful midline swelling that had been present for three days with sore throat, dysphagia, and fever. He denied any respiratory difficulty or hoarseness. He also denied weight loss/gain; temperature intolerance; anxiety; or fluctuations in appetite and/or energy level. Physical exam revealed a 4cm fluctuant, cystic mass in the midline of the neck with extension in to the left neck. The mass was warm, tender, and rose with swallowing and tongue protrusion. The floor of mouth and base of tongue were soft and there was no cervical lymphadenopathy. His thyroid gland was nonpalpable. Laboratory studies revealed a leukocytosis of 16.47 with a left. No evidence of malignant degeneration was found on fine needle aspiration. An ultrasound of the neck showed a 2.5cm midline/left paramedian cystic mass with no enlarged lymph nodes, and a CT of the neck with contrast showed a 1.8 x 1.2 cm loculated infrahyoid cystic mass in the midline and left paramedian neck. The patient was diagnosed with an infected thyroglossal duct cyst. There was no clinical suspicion for thyroid ectopia or malignancy. The patient was treated with intravenous clindamycin for one week and then taken to the operating room for definitive treatment. There, the patient underwent a complete anterior/central neck dissection with removal of the strap muscles and resection of the central portion of the hyoid bone and a cuff of tissue from the base of tongue. The patient recovered well and has had an uncomplicated post-operative course with no infection, hypothyroidism, fistula, or recurrence. Bibliography: Brousseau VJ, Solares CA, Xu M, Krakovitz P, Koltai PJ. Thyroglossal duct cysts: Presentation and management in children versus adults. Int J Pediatr Otorhinolaryngol 2003;67:1285-1290. Byard RW, Bourne AJ, Silver MM. The association of lingual thyroglossal duct remnants with sudden death in infancy. Int J Pediatr Otorhinolaryngol 1990;20:107-112. Castillo-Taucher S, Castillo P. Autosomal dominant inheritance of thyroglossal duct cyst. Clin Genet 1994;45:111-112. Chandra RK, Maddalozzo J, Kovarik P. Histological characterization of the thyroglossal tract: Implications for surgical management. Laryngoscope 2001;111:1002-1005. 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