Congenital epulis, also known as congenital granular cell tumour is a benign rare tumour of the oral cavity of the newborn infants. manifesting as a proliferation of cells most frequently occurring on the alveolar ridge of the oral cavity at birth. The initial original first description of the lesion was dated in 1871 by Dr Franz Ernst Christian Neumann, who coined the name for the tumour, known as Neumann’s tumour. The term ‘epulis’ which has been used in the condition, simply refers to swelling of the gingival, also known as gums.[1] It may lead to mechanical obstruction and blocking the airways, resulting in problems like respiratory distress and feeding difficulties. Such cases require immediate surgical intervention as they interfere with feeding and have the potential to cause death via lack of oxygen, asphyxia during the perinatal and postnatal period.[2]
Congenital epulis has an extremely low incidence of roughly 0.0006% and more than 250 cases has been described in the literature so far.[2] The alveolar ridges of the maxilla (upper jaw) and mandible (lower jaw) are the most frequent sites, while occurrence on the tongue is rare. This tumour is has a strong tendency for occurrence in females, which suggests hormonal involvement during embryonic development. The lesion is 3 times more frequently seen in the maxilla than in the mandible and the female: male ratio is 10:1.[3]
The origin of congenital epulis remains unknown. It has been claimed to originate from: (1) odontogenic epithelium, (2) dental papilla, (3) as a malformation of the developing tooth, (4) to have a relationship with the granular cell ameloblastoma and (5) to be identical to the also little understood and controversial granular cell myoblastoma. Kay et al (1970) has also reported in an electron microscopic examination of the congenital epulis, where junctional complexes between some of the granular cells were found. This suggests that these cells may be of epithelial origin. However, their studies were not entirely conclusive.[4]
Pathogenesis
Congenital epulis is frequently seen in female; the female-to-male ratio has been reported to be between 8:1 and 10:1.[5] It has been suggested that endogenous hormonal influences, such as those produced by the mother or foetus during pregnancy, are the source of this gender bias. The existence of progesterone and oestrogen receptors within the lesion, however, has not corroborated this idea. An intrauterine stimulation from the foetal ovaries could be another reason for the female preponderance.
The pathophysiology of congenital epulis has been explained by a number of ideas. According to one such idea, some tumours have been demonstrated to spontaneously regress, and the tumor's growth ceases after delivery. This lends credence to the theory that hormones from the mother or foetus may influence its growth. Although it is still ambiguous, this lends credence to the theory that foetal or maternal hormones may contribute to its development. Furthermore, congenital epulis may have a mesenchymal origin, as indicated by ultrastructural and immunohistochemical results in documented cases, where the cells display characteristics of fibroblasts and histiocytes.[6]
Clinical Features
A preoperative clinical image showing an epulis mass extending into the oral cavity.
Depending on the size, number, and location of the tumor, clinical manifestation could vary from no symptoms to feeding difficulty and rarely airway obstruction. Clinically, congenital epulis can grossly present as smooth-surfaced lobular or ovoid, sessile or pedunculated, red or pink nodule with a size ranging from several millimeters up to 7.5–10 cm and it is firm in consistency.[7]
Appearance of an intra oral mass arising from gingiva of the anterior maxilla
Congenital epulis is most commonly seen in neonates, with a mass developing from the gingiva and spreading over the maxillary alveolar ridge, generally near the lateral incisors or canines.[8] It usually tends to grow on the anterior alveolar ridge of the newborns, more on the maxilla than on the mandible with a ratio of 3:1.[7] However, there are a few cases reported in other sites in the oral cavity, such as the tongue.[9]
The lesions occur sporadically, and no familial predispositions are noted. Usually, congenital epulis is unveiled as a solitary lesion [8] Although, multiple lesions were noted in 10% of documented cases in a Medline search [9]
Histopathological Characteristics
Histopathologically, congenital epulis is usually characterized by the presence of big, rounded cells that fill the mucosa's lamina propria and have round to oval nuclei and an abundance of eosinophilic cytoplasm.[6] The lining epithelium and the cellular growth were separated by a thin layer of dense connective tissue. Numerous histological traits, such as a fibrous and granulomatous appearance, have been reported in recent research.[6]
The most widely accepted theory about the development of these lesions is that they originate from primitive mesenchymal cells that have undergone cytoplasmic and molecular changes resulting from epigenetic factors.
A low-power microscopic image reveals stratified squamous epithelium with a subepithelial proliferation of large polygonal cells arranged in nests and dense sheet A medium-power microscopic view displays nests and sheets of large polygonal cells with abundant granular eosinophilic cytoplasm and a centrally located nucleusA high-power microscopic view reveals variably sized blood vessels scattered throughout certain areas of the lesion
Diagnosis
Diagnosis
Prenatal Diagnosis
Congenital epulis can be identified prenatally through ultrasound and magnetic resonance imaging (MRI), particularly during the third trimester of pregnancy.[10] Prenatal ultrasound may reveal a well-defined mass arising from the gingival tissue of the fetus, while MRI provides detailed soft tissue contrast, aiding in characterization, localization, and differentiation from other orofacial anomalies.[10]
Histopathological Diagnosis
Definitive diagnosis is established through histopathological examination of the excised lesion.[10] Microscopically, congenital epulis is composed of:
Proliferating polygonal to round cells with eosinophilic, granular cytoplasm [10][11]
These histopathological features are essential in distinguishing congenital epulis from other gingival and soft tissue neoplasms.
Immunohistochemical Analysis
Immunohistochemical staining serves as an important adjunct in the differential diagnosis of congenital epulis.[10] A negative S-100 stain is a hallmark feature, differentiating it from granular cell tumors, which typically exhibit S-100 positivity.[11] The absence of S-100 expression supports the diagnosis and reinforces its distinction from other granular cell lesions.[12]
Possible Differential Diagnosis
Differential Diagnosis of Congenital Epulis
Congenital epulis, also known as congenital granular cell epulis, is a rare benign tumor of the gingiva in newborns.[2] Clinically, it presents as a pedunculated or sessile mass protruding through the oral cavity of a newborn child.[2] Due to its clinical presentation as a soft tissue mass in the oral cavity, it must be differentiated from several other neonatal oral lesions.[2] Diagnosis is primarily based on clinical examination, imaging, and histopathological evaluation.[10]
Rhabdomyosarcoma
Rhabdomyosarcoma is a rare malignant tumor in neonates that can occasionally involve the oral cavity.[11] Unlike congenital epulis, rhabdomyosarcoma typically exhibits infiltrative growth, aggressive behavior, and malignant histological features, necessitating early detection and intervention.[11]
Infantile Myofibroma
Infantile myofibroma is a benign fibrous tumor that may present as a gingival mass in newborns. However, histologically, it is composed of fibrous tissue rather than granular cells, distinguishing it from congenital epulis.[11]
Melanotic Neuroectodermal Tumor of Infancy (MNTI)
Melanotic neuroectodermal tumor of infancy is a rare, benign neoplasm characterized by painless, non-ulcerative, expansile, and rapidly growing pigmented lesions.[13] The presence of pigmentation and neuroectodermal differentiation differentiates it from congenital epulis.[13]
Peripheral Odontogenic Fibroma
Peripheral odontogenic fibroma is a benign odontogenic tumor that appears as a firm, well-defined mass on the gingiva.[11] Its gingival location may resemble congenital epulis, but histopathological examination reveals odontogenic epithelial components, which are absent in congenital epulis.[11]
Neurofibroma
Neurofibroma is a benign nerve sheath tumor that may present as a soft tissue swelling in the oral cavity, including the gingiva.[11] In neonates, a neurofibroma may clinically mimic congenital epulis, particularly if the lesion is small and non-infiltrative. Immunohistochemical staining for S-100 protein, which is positive in neurofibromas but negative in congenital epulis, serves as a distinguishing factor.[11]
Teratoma
Oral teratomas present as congenital masses with potential mass effect, leading to difficulties in feeding and breathing difficulty.[13] Some cases may have an intracranial component, necessitating further imaging and surgical intervention.[13]
Eruption Cyst
Eruption cysts present as bluish, dome-shaped, translucent, and compressible swellings within the oral mucosa, typically overlying an erupting primary tooth.[13] Their characteristic association with erupting teeth distinguishes them from congenital epulis.[13]
Differentiating congenital epulis and these conditions is essential for accurate diagnosis and appropriate management. Histopathological evaluation, along with immunohistochemical staining, plays a crucial role in distinguishing congenital epulis from other similar lesions.[10]
Complications
Clinical complications of congenital epulis can range from no complications to feeding difficulties and, in rare cases, airway obstruction if the tumor is large.[7] The complications listed below are more commonly associated with large congenital epulis tumors.
Congenital epulis is one of the extrinsic factors in the oral region that can cause airway obstruction, leading to dyspnea. If a newborn has a compromised airway at birth, the inability to secure the airway promptly may result in hypoxic cerebral insult or death. Fetal ultrasound and magnetic resonance imaging can help differentiate between intrinsic and extrinsic airway obstruction, allowing for optimal delivery planning and management. For instance, collaboration with ear, nose, and throat (ENT) specialists or pediatric surgery airway teams may be necessary in case of an emergency resection or tracheostomy in the newborn.[7] Congenital epulis, however, may complicate general anesthesia by interfering with endotracheal intubation. The vascular and friable nature of the mass increases the risk of significant bleeding, further obscuring visualization of the vocal cords during intubation.[5] In addition to oral airway obstruction, extrinsic airway obstructions may also occur at the cervical or thoracic levels. Examples include cervical teratomas, epignathus, cervical lymphangiomas, and micrognathia.[14]
Beyond respiratory issues, large congenital epulis tumors may also interfere with feeding or prevent proper closure of the mouth, leading to impaired swallowing of amniotic fluid and resulting in polyhydramnios.[15] However, prenatal diagnosis of congenital epulis is rare, as it develops slowly during the third trimester of pregnancy.[7]
Other common clinical manifestations include cyanosis, coughing, and, occasionally, vomiting.[2]
Key Points:
Airway obstruction
Feeding problems
Vomiting
Dyspnea
Coughing
Polyhydramnios
Complicate general anesthesia by interfering with endotracheal intubation
Hypoxic cerebral insult
Cyanosis
Death
Treatment and Management
Recommended management for congenital epulis is surgical excision.
Exceptions in cases:
Size: Larger congenital epulis are more likely to obstruct the airway, so surgery is usually recommended.
Feeding: If the congenital epulis is causing feeding difficulties, surgery is usually recommended.
Spontaneous regression: Small congenital epulis that aren't causing feeding or airway problems may be able to be managed conservatively, as they often stop growing after birth and may regress on their own.[16]
Incomplete excision: Even if the congenital epulis isn't completely removed, it usually doesn't recur.
Other considerations for treating congenital epulis include:
Perioperative care: Close coordination between a pediatric plastic surgeon and a pediatric anesthesiologist is important.
Follow-up: After surgical removal, it's important to follow up to check for recurrence.
Prenatal diagnosis: Fetal MRI and 3-dimensional ultrasound can help diagnose congenital epulis before birth.
↑ Ryan, Greg; Somme, Stig; Crombleholme, Timothy M. (August 2016). "Airway compromise in the fetus and neonate: Prenatal assessment and perinatal management". Seminars in Fetal and Neonatal Medicine. 21 (4): 230–239. doi:10.1016/j.siny.2016.03.002. PMID27084444.
↑ Qin, Yuelin; Hu, Ningning; Zhang, Cuimei; Wang, Junwei; Yang, Xuecai (18 March 2024). "Multiple Congenital Granular Cell Epulis Involving Different Parts of the Oral Cavity: A Case Report". Ear, Nose & Throat Journal. doi:10.1177/01455613241241106. PMID38499986.
This page is based on this Wikipedia article Text is available under the CC BY-SA 4.0 license; additional terms may apply. Images, videos and audio are available under their respective licenses.
