Prenatal Diagnosis of a Large Congenital Epulis

A 39-year-old gravida 2, para 1 woman was referred to our fetal care center at 36 + 3/7 weeks’ gestation after follow-up growth ultrasound (US) performed due to her gestational diabetes showed a new finding of a protruding solid mass from the fetal mouth measuring 4 cm × 2.7 cm (Figure 1). Apart from gestational diabetes, maternal history was unremarkable. Fetal magnetic resonance imaging (MRI) performed at 37 + 2/7 weeks’ gestation showed a protruding soft tissue mass arising from the anterior aspect of the maxillary gingival region and extending exterior to the oral cavity. There was no evidence for tongue involvement, mass effect, or effacement involving the nasopharyngeal or oropharyngeal airways (Figure 2).Anatomy US at 38 + 3/7 weeks’ gestation showed measurements consistent with dates (estimated fetal weight 3517 g, 68th percentile), normal fluid volume (amniotic fluid volume index 16.85 cm), and a soft tissue mass measuring 3.4 × 2.5 × 4.6 cm originating from the maxillary gingiva and protruding outside the fetal mouth (more right-sided) (Figure 3A). Discrete vascularity was seen within this mass (Figure 3B); furthermore, the maxilla and lips were normal. The size of the mass was noted to be stable in size from the MRI of the week before. MRI previously confirmed the maxillary gingival origin of this mass. On both the US and MRI, the mass appeared homogeneous without any complex features.Given the late gestational age, multidisciplinary discussions among pediatric otolaryngology (ORL), radiology, neonatology, and maternal-fetal medicine were expedited, and consultations with the couple were arranged. The fetal oral mass was considered most likely to be a congenital epulis (CE), but teratoma was on the differential. The couple was counseled about the possibility of their baby needing respiratory support after delivery; mask ventilation was deemed ineffectual due to the oral mass. Rescue with laryngeal mask airway (LMA), high flow nasal cannula (HFNC), and nasopharyngeal airway vs intubation was discussed, as was the risk of bleeding from the mass with airway instrumentation. The couple was also counseled that postnatal resection would occur in the first couple of days after birth to enable oral feeding. In contrast, if postnatal respiratory status was not affected, an alternative pathway that could be considered would be gavage feeding with resection at a later date. The couple was advised that this approach was less favorable because it would delay attainment of oral feeding skills and potentially lead to oral aversion.In-depth discussions occurred regarding mode of delivery and delivery room management. The couple wished to have a trial of vaginal delivery; pediatric ORL and maternal-fetal medicine agreed that there was no contraindication to vaginal delivery. The couple was extensively counseled by neonatology about the delivery room and immediate postnatal plans. Pediatric ORL and neonatology collaborated closely on planning delivery room approach, with pediatric ORL present at delivery and overseeing neonatal airway, and neonatology in charge of overall resuscitation and other postnatal stabilization.The patient presented at 39 weeks’ gestation for induction of labor. Pediatric ORL was called when the patient was fully dilated and was present at delivery with neonatology team. A female infant was delivered with good tone and spontaneous respiratory effort. She was warmed, dried, and stimulated at the perineum while undergoing delayed cord clamping for 60 seconds. A large, 4-cm pedunculated oral mass was visible at the time of delivery (Figure 4). The cord was clamped and cut; the infant was brought to the warmer. Desaturations in the 40s were noted at 3 minutes after birth, which did not improve with administration of blow by oxygen. A nasal trumpet was inserted into the right naris but met resistance, so was removed. At 6 minutes after birth, a size 1 LMA was inserted without difficulty, with notable color change on the colorimetric CO2 detector. Insertion was performed cautiously to avoid trauma to the mass that could cause bleeding. Initially, the infant required fraction of inspired oxygen (Fio2) = 1 but was able to be weaned to Fio2 = 0.21 prior to transport to the neonatal intensive care unit (NICU). Throughout the resuscitation, copious oral secretions were noted and required frequent bulb suctioning.Upon admission to the NICU, the infant was placed on HFNC 6 L/min, and the LMA was removed. A size 1 LMA was kept at the bedside for use in an emergency. A peripheral intravenous (IV) line was placed, and serial glucoses were monitored given maternal gestational diabetes. The infant was brought to the operating room on 1 day of age. The mass was examined and noted to be a “large vascular oral mass arising from the mucosa of the right maxillary alveolar ridge with several large visible feeding vessels coming from the right gingivobuccal sulcus” and measuring 5 × 2 × 3 cm. She was intubated with a cuffed 3.0 endotracheal tube over a Hopkins rod without difficulty. The supraglottis, glottis, subglottis, trachea, and bronchi were all normal, as were the remainder of the oral cavity and pharynx. The oral mass was excised, and hemostasis was achieved. The specimen was submitted to pathology for review. The infant was extubated, placed back on HFNC 6 L/minute, and transferred back to the NICU. Her HFNC was subsequently weaned, and she was in room air by the same evening. She was allowed to feed orally ad lib, and her IV fluids were weaned off on the second day of age. By 3 days after birth, she was taking excellent oral volumes, the surgical site was healing well (Figure 5), she was stable in room air, and she did not have any significant jaundice. As such, she was discharged home. She followed up with pediatric ORL at 2 weeks of age, at which time the resection site on the right maxillary alveolus was noted to continue to be healing well, and she was breast and bottle feeding without difficulty.Gross examination of the submitted specimen demonstrated a polypoid, well-circumscribed mass (Figure 6), composed of polygonal cells with eosinophilic granular cytoplasm on microscopic examination (Figure 7). Immunohistochemical stains performed demonstrated diffuse positive CD68 staining, whereas S-100 and desmin were negative. The findings were characteristic of a congenital granular cell epulis.A CE, also known as congenital granular cell tumor, is a rare, benign tumor localized to the alveolar region in a newborn. First described by Neumann in 1871,1 CE has also been termed Neumann’s tumor, granular cell rhabdomyoma, congenital myoblastoma, and myoblastic myoma. The estimated incidence of CE is 0.006% per live birth and is more common in girls, with an estimated 9:1 to 10:1 female to male predominance.2 These benign tumors are smooth, usually similar in color to oral mucosa, may be sessile or pedunculated, and can range in size from a few millimeters to more than 10 cm.3 CEs are usually located on the gingival mucosa of the maxillary or mandibular anterior alveolar ridge, with a predilection for the maxilla (maxilla to mandible ratio of 3:1).4 Most commonly, the incisor-canine area is affected. Lesions are usually single, but approximately 10% present as multiple lesions.5 Histologically, CEs are characterized by large, round cells with granular, eosinophilic cytoplasm and small eccentric nuclei. There is a delicate fibrovascular network that separates individual cells. Immunohistochemistry is negative for expression of S-100 protein.6 Neither a genetic linkage nor teratogenic exposure has been identified to date. The pathogenesis of CE remains unknown, although many theories have been postulated including fibroblastic, histiocytic, myogenic, neurogenic, odontogenic, and reactive etiologies.7The differential diagnosis of a mass in the fetal or neonatal oral cavity is broad and should include congenital malformations (eg, encephalocele, dermoid cysts, teratomas) as well as both benign and malignant neoplasms.8 Female predominance, tumor location (often on the maxillary anterior region), and presence at birth help narrow the differential toward a diagnosis of CE, although this combination is not specific.Most cases of CE are diagnosed at birth; prenatal diagnosis is rare because CEs often develop slowly during the third trimester of pregnancy, with the earliest case report in the literature identified at 26 weeks’ gestation.9 Prenatal diagnosis of CE, however, is extremely helpful especially in cases of large tumors, which can cause oral and airway obstruction both prenatally, leading to polyhydramnios, and postnatally, leading to potential respiratory and feeding difficulties. Prenatal US and fetal MRI can complement one another and help narrow the differential diagnosis of a fetal oral mass.10 On prenatal US, echogenic identification of a well-circumscribed, nonseptate mass may be seen with CEs. Doppler findings are inconsistent with a hemangioma. Unlike teratomas, which are heterogenous and can contain cystic areas, calcification, and variable amounts of fat, fetal MRI of a CE will demonstrate a homogenous, soft tissue mass extending from the oral cavity.In cases of prenatal diagnosis, multidisciplinary discussions among maternal-fetal medicine, neonatology, radiology, and pediatric ORL are vital to delivery planning and preparing the family for potential intervention in the newborn period.11 As in the case above, CEs that cause respiratory and/or feeding obstruction require active intervention soon after birth. Surgical excision is the treatment of choice for CE, although a more conservative approach may be taken with smaller lesions. Rarely, spontaneous regression has been reported.12,13 Recurrence has not been reported in the literature, and, to our knowledge, there have been no reports of malignant changes or serious problems with alveolar or tooth development.14This case of CE highlights the utility of prenatal diagnosis for coordinated delivery planning, initial stabilization, and treatment of a newborn with this rare condition. Moreover, it allows for prenatal multidisciplinary counseling of affected families to help them better prepare for the postnatal period. As in our case, urgent surgical resection is necessary for newborns with CEs that cause respiratory and/or feeding problems.American Board of Pediatrics Neonatal-Perinatal Content SpecificationUnderstand perioperative care of newborn infants (eg, respiratory, fluid, temperature, antibiotics, pain management), head (eyes, ears, nose, and throat).Recognize congenital anomalies of the head, ears, nose, mouth, and neck.