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CASE REPORT
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Epiganthus presenting as respiratory distress in a male neonate: A rare case report


 Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India

Date of Submission18-Oct-2019
Date of Acceptance12-Jan-2020
Date of Web Publication07-Nov-2020

Correspondence Address:
Charanjeet Ahluwalia,
Department of Pathology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi - 110 029
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcrt.JCRT_888_19

 > Abstract 

An epignathus is an extremely rare form of oropharyngeal teratoma that arises from the oral cavity, most commonly from the palate and is associated with a high mortality secondary to airway obstruction in the neonatal period. It predominantly occurs in females. Here, we are presenting a case of giant epignathus in a male baby with associated cleft palate.

Keywords: Epiganthus, oropharynx, teratoma



How to cite this URL:
Kumar N, Ahluwalia C, Singla G, Singla S. Epiganthus presenting as respiratory distress in a male neonate: A rare case report. J Can Res Ther [Epub ahead of print] [cited 2020 Dec 2]. Available from: https://www.cancerjournal.net/preprintarticle.asp?id=300200


 > Introduction Top


Teratoma is true neoplasia consisting of cells from all three germ layers. In newborns, they occur most commonly in the sacrococcygeal region. They also occur in the gonads, head and neck, mediastinum, retroperitoneum, brain, spinal cord, and liver. Teratomas of the head-and-neck region are extremely rare and account for 2%–9% of all teratomas at birth.[1] They most commonly occur in the cervical region, followed by the oropharyngeal region where it is known as epiganthus. The incidence of oropharyngeal teratomas is one in 35,000–200,000 live births.[1] In oropharynx, they most commonly arise in the upper jaw, palate, and sphenoid bone. They are three times more common in females.[2] Here, we report a rare case of epiganthus occurring in a 3-day-old male patient.


 > Case Report Top


A 3-day-old male baby presented with respiratory difficulty since birth. On examination, a large mass arising from the right side of the palate and cleft palate was seen [Figure 1]. His contrast-enhanced computed tomography (CT) scan showed that the mass was arising from the oral cavity, extending obliquely on the right side causing facial disfigurement [Figure 2]. The mass was excised and sent for histopathological examination.
Figure 1: Clinical image showing large mass arising from oral cavity

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Figure 2: Contrast-enhanced computed tomography showing mass arising from oral cavity (arrow)

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Grossly, a gray-brown soft-tissue mass measuring 7 cm ×5 cm ×4 cm was received in the Department of Histopathology, Safdarjung hospital. Externally, it was well-circumscribed, skin covered, and bosselated in appearance. On cut, the tumor was solid and cystic in appearance with cysts varying in size from 0.1 to 2.5 cm. The cysts were filled with mucoid material. Cut surface was yellowish in appearance with focal gray white firm areas [Figure 3]. Few gritty areas were also identified. Histopathological examination revealed features of mature cystic teratoma comprising tissues derived from all the three germ layers. Areas consisted of keratinizing squamous epithelium with skin adnexa, mature brain tissue, stratified columnar epithelium, and mesenchymal elements, including fat, cartilage, and smooth muscle [Figure 4] and [Figure 5]. Focal areas of calcification were also seen. Despite extensive sampling, no immature elements were seen. Hence, a final diagnosis of mature cystic teratoma of the Oropharynx (epignathus) was made.
Figure 3: Gross image showing a skin covered solid tumor cystic areas filled with mucoid material and yellowish in appearance

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Figure 4: H and E section showing stratified squamous epithelium with skin adenexa, fat and cyst lined by ciliated columnar epithelium

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Figure 5: H and E section showing the presence of neural tissue along with smooth muscle with areas of calcification

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 > Discussion Top


The term teratoma was coined by Virchow in 1869. “Teraton” meaning “monster” “onkoma,” meaning “swelling” was used to describe mammoth sacrococcygeal growths.[3] Oral teratomas are extremely rare, and almost only seen in neonates.

There are various theories regarding the origin of these tumors. According to one theory, they are thought to arise from totipotential primordial germ cells. These cells develop among the endodermal cells of the yolk sac near the allantois and migrate to the genital ridges during the 4th and 5th weeks of gestation. Some cells may miss their target destination and give rise to a teratoma anywhere from the brain to the coccygeal area usually in the midline or para axial location. Another theory states they are remnants of the primitive node or primitive streak and teratomas may be the result of an abortive effort of twinning.[4]

They are histologically classified into four groups: (a) Dermoid cysts which consist of epithelial cells lined with skin elements composed of ectodermal and mesodermal cells, (b) Teratoid cysts which are composed of all three germ cell layers and poorly differentiated, (c) Teratomas consisting of all three germinal cell layers which are differentiated into specific tissues or organs, and (d) Epignathi which are highly developed rare oral tumors with developmental fetal organs and limbs, with a high mortality rate.[2] The tissues that are often found in these tumors consist of the brain, cartilage, bronchial epithelium, and cystic tissues.

Teratomas arising from the soft or hard palate, cheek, buccal mucosa, tongue, and protruding from the mouth are called epiganthus. The clinical presentation varies depending on the size of the lesion.

It may be asymptomatic or manifest as dyspnea, suffocation, difficulty in sucking, swallowing, and vomiting depending on the size. In the case of giant teratomas, facial anatomy is distorted and often causes respiratory distress at birth. Mortality at birth due to respiratory obstruction is very high. In our case, the baby had gross distortion of the facial anatomy and presented with very severe respiratory difficulty.

They are associated with concomitant malformations, with the cleft palate being the most commonly associated anomaly. This is thought to be because of mechanical obstruction caused by the neoplasm, preventing closure of the palatal shelves. Other malformations associated with epignathus include bifid tongue and nose.[3],[5]

CT scan and magnetic resonance imaging play a key role in differentiating neonatal nasopharyngeal teratomas from other causes of neonatal oral mass.[6] Treatment includes complete surgical excision depending on the site and the size of the tumor. The prognosis is excellent. Recurrence is rare and can occur due to incomplete surgical resection.

To conclude, epignathus is a potentially lethal fetal anomaly with 80%–100% mortality rate. Early recognization of these tumors is important as they are associated with high mortality in the newborn period. Complete surgical resection is the definitive treatment, and confirmation by histopathology remains the gold standard.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
 > References Top

1.
Manchali MM, Sharabu C, Latha M, Kumar L. A rare case of oropharyngeal teratoma diagnosed antenatally with MRI. J Clin Imaging Sci 2014;4:15.  Back to cited text no. 1
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2.
Jadhav SS, Korday CS, Malik S, Shah VK, Lad SK. epignathus leading to fatal airway obstruction in a neonate. J Clin Diagn Res 2017;11:SD04-5.  Back to cited text no. 2
    
3.
Halterman SM, Igulada KN, Stelnicki EJ. Epignathus: Large obstructive teratoma arising from the palate. J Clin Ultrasound 2010;10.  Back to cited text no. 3
    
4.
Jean-Martin L, Luong TN, Kenneth SE. Teratomas, dermoids and other soft tissue tumors, In: Keith WA, Patrick JM, Ronald JS, David LS, editors. Pediatric Surgery. 3rd ed. Philadelphia: WB Saunders Co.; 2000. p. 905-26.  Back to cited text no. 4
    
5.
Vandenhaute B, Leteurtre E, Lecomte-Houcke M, Pellerin P, Nuyts JP, Cuisset JM, et al. Epignathus teratoma: Report of three cases with a review of the literature. Cleft Palate Craniofac J 2000;37:83-91.  Back to cited text no. 5
    
6.
Mirshemirani A, Khaleghnejad A, Mohajerzadeh L, Samsami M, Hasas-Yeganeh S. Congenital nasopharyngeal teratoma in a neonate. Iran J Pediatr 2011;21:249-52.  Back to cited text no. 6
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]



 

 
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