Teratomas and dermoid cysts are germ cell neoplasms. This article focuses on cervical and craniofacial teratomas. Presentation of these neoplasms varies in degree of severity, from cosmetic deformities to airway distress requiring emergent intervention. Nasal lesions (particularly if suspicious for a nasal dermoid) require imaging before biopsy to assess for intracranial extension. Treatment consists of airway management if respiratory distress is present, and early surgical intervention. Postoperative follow-up is required to monitor for recurrence.
Key points
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Teratomas and dermoid cysts are germ cell neoplasms that can occur in the cervical and craniofacial regions.
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Presentation of these neoplasms varies in degree of severity, from cosmetic deformities to airway distress requiring emergent intervention.
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Nasal lesions (particularly if suspicious for a nasal dermoid) require imaging before biopsy to assess for intracranial extension.
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Treatment consists of airway management if respiratory distress is present, and early surgical intervention.
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Postoperative follow-up is required to monitor for recurrence.
Teratomas
Epidemiology
The word “teratoma” is derived from “teraton,” a Greek word meaning “a monster,” highlighting what the ancients thought about these maldevelopments. The incidence of teratomas is 1:4000 births. No sex predilection for teratomas in the head and neck region has been observed. The etiology of teratomas is not fully understood; however, they likely occur in part when individual pluripotent cells fail to complete migration and continue dividing in an aberrant location, typically along the midline. Teratomas have been found to occur in isolation or in association with other anomalies. Examples of previously reported comorbidities include central nervous system lesions, Klinefelters, Trisomy 13, Trisomy 21, congenital heart defect, Beckwith-Wiedemann syndrome, and cleft lip and palate.
Classification
Teratomas are classified by the anatomic location in which they occur. General anatomic classifications include the following:
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Gonadal: teratomas involving testis or ovaries
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Extragonadal: teratomas located in regions such as sacrococcygeal, mediastinal, gastric, retroperitoneal, intracranial, cervical, and craniofacial.
The sacrococcygeal region is the overall most common location. This article focuses on cervical and craniofacial teratomas.
Teratomas in the head and neck region account for approximately 2% to 5% of all germ cell neoplasms, with cervical teratomas being the most common. The incidence of cervical teratomas is estimated to be between 1:20,000 and 1:40,000 live births and are often identified on a prenatal ultrasound. Cervical teratomas may extend into the mediastinum or displace the trachea, causing pulmonary hypoplasia. As a result, there is an increased risk of respiratory-related morbidity and mortality and perinatal fetal interventions, such as an EXIT (ex utero intrapartum treatment) procedure may be required (refer to the article by Walz and Schroeder, elsewhere in this issue for further detail). If untreated, cervical teratomas have an estimated mortality rate of 80% to 100%.
Craniofacial teratomas have occurred in the orbit, pharynx, oropharynx, middle ear, sinonasal tract, and palate. A palatal teratoma is named an epignathus, and is the most common craniofacial teratoma in newborns ( Fig. 1 ). These teratomas can present with fetal polyhydramnios due to impaired fetal swallowing and are often identified antenatally. Once identified, an EXIT procedure should be seriously considered. An epignathus is typically attached to the palate via a stalk. After initial resection and establishment of the airway, further imaging is necessary to determine persistence of teratoma within the infratemporal fossa and parapharynx, as demonstrated in Figs. 1 and 3 .
Histology
Teratomas are composed of all 3 embryonic layers: endoderm, mesoderm, and ectoderm. They are further classified as being either mature or immature. Mature teratomas are the most common histologic type in children and contain only mature elements, such as skin, hair, fat, tissue, cartilage, bone, and glands. Immature teratomas contain immature elements, such as neuroepithelial tissue and immature mesenchyme. Microscopic foci of a yolk sac tumor, an immature element, have been found to be a predictor of recurrence after resection. Congenital cervical teratomas have an estimated 5% risk of malignancy, with risk increasing with advanced age of diagnosis.
Tumor Markers
Alpha-fetoprotein (AFP) is normally elevated in neonates and decreases in the postnatal period. Persistently high AFP may be suggestive of a teratoma. Additionally, postoperative half-life of AFP is 6 days; therefore, AFP can be used to monitor for residual disease or recurrence.
Genetics
There is inconclusive evidence of a genetic link for teratomas. In children, however, deletions on chromosomes 1 and 6 have been observed. In adults, deletions on chromosome 12 have been seen.
Presentation and Diagnosis of Teratomas
Teratomas present in the antenatal, perinatal, or postnatal periods. Polyhydramnios is observed in approximately 0.41% of pregnancies, and when present, is associated with a congenital malformation 20% of the time. Among cervical teratomas, 18% to 20% present with polyhydramnios due to impaired fetal swallowing. Prenatal ultrasounds can aid in the identification of teratomas. If a suspicion of a teratoma arises in the prenatal period, a fetal MRI can provide further information regarding the relationship between the teratoma and the airway, the degree of airway compression, and its proximity to great vessels. Identifying fetal teratomas in the prenatal period provides the opportunity to establish a birthing plan (ie, cesarean delivery vs vaginal birth) as well as any life-saving airway interventions, such as an EXIT procedure (discussed in the article by Walz and Schroeder, elsewhere in this issue). Teratomas diagnosed in the postnatal period typically manifest as a firm mass in any of the regions previously discussed.
Lesions suspicious for a teratoma in the nasal cavity or nasopharynx require imaging, such as a computed tomography (CT) scan or MRI, so as to rule out an encephalocele or intracranial connections before biopsy or surgical resection. Fig. 2 depicts a nasopharyngeal teratoma extending into oropharynx ( Fig. 2 A–B).
Management of Teratomas
The primary goal in treating infants with teratomas is to minimize respiratory distress in the neonatal period by providing respiratory and airway support when necessary. The secondary goal is early surgical excision, which decreases the risk of sequelae, such as infection leading to sepsis, ulcerations, coagulopathies, and hemodynamic disturbances. Fig. 3 demonstrates a cervical teratoma, the surgical approach, and post resection defect ( Fig. 3 A–G). Furthermore, early surgical intervention decreases the risk of malignant transformation. Teratomas are generally well-defined lesions; however, they have been observed to infiltrate nearby tissue, requiring resection of local structures. Overall, the surgery risk of mortality is estimated to be as high as 15%.
Postoperative Care
Postoperatively, airway support is often required, either from direct airway involvement, or from injuries to airway-related structures, such as injury to the recurrent laryngeal or vagus nerves. Intensive care admission should be arranged. Specific postoperative monitoring is dependent on the extent of surgical resection and the structures and organs involved; for example, neuro vitals, ophthalmologic evaluations, or endocrine monitoring (eg, calcium and/or thyroid function).
Long-term patient follow-up needs to be established to review the final pathology report and to monitor for postoperative complications, healing, recurrence, and malignant transformation.
Teratomas
Epidemiology
The word “teratoma” is derived from “teraton,” a Greek word meaning “a monster,” highlighting what the ancients thought about these maldevelopments. The incidence of teratomas is 1:4000 births. No sex predilection for teratomas in the head and neck region has been observed. The etiology of teratomas is not fully understood; however, they likely occur in part when individual pluripotent cells fail to complete migration and continue dividing in an aberrant location, typically along the midline. Teratomas have been found to occur in isolation or in association with other anomalies. Examples of previously reported comorbidities include central nervous system lesions, Klinefelters, Trisomy 13, Trisomy 21, congenital heart defect, Beckwith-Wiedemann syndrome, and cleft lip and palate.
Classification
Teratomas are classified by the anatomic location in which they occur. General anatomic classifications include the following:
- •
Gonadal: teratomas involving testis or ovaries
- •
Extragonadal: teratomas located in regions such as sacrococcygeal, mediastinal, gastric, retroperitoneal, intracranial, cervical, and craniofacial.
The sacrococcygeal region is the overall most common location. This article focuses on cervical and craniofacial teratomas.
Teratomas in the head and neck region account for approximately 2% to 5% of all germ cell neoplasms, with cervical teratomas being the most common. The incidence of cervical teratomas is estimated to be between 1:20,000 and 1:40,000 live births and are often identified on a prenatal ultrasound. Cervical teratomas may extend into the mediastinum or displace the trachea, causing pulmonary hypoplasia. As a result, there is an increased risk of respiratory-related morbidity and mortality and perinatal fetal interventions, such as an EXIT (ex utero intrapartum treatment) procedure may be required (refer to the article by Walz and Schroeder, elsewhere in this issue for further detail). If untreated, cervical teratomas have an estimated mortality rate of 80% to 100%.
Craniofacial teratomas have occurred in the orbit, pharynx, oropharynx, middle ear, sinonasal tract, and palate. A palatal teratoma is named an epignathus, and is the most common craniofacial teratoma in newborns ( Fig. 1 ). These teratomas can present with fetal polyhydramnios due to impaired fetal swallowing and are often identified antenatally. Once identified, an EXIT procedure should be seriously considered. An epignathus is typically attached to the palate via a stalk. After initial resection and establishment of the airway, further imaging is necessary to determine persistence of teratoma within the infratemporal fossa and parapharynx, as demonstrated in Figs. 1 and 3 .
