Tumors: Congenital

Jacqueline R. Carrasco


BASICS


DESCRIPTION


• Congenital orbital tumors are typically found at birth or in early childhood.


• The most common congenital orbital tumors are dermoid or epidermoid cysts and teratomas.


– Orbital dermoid/epidermoid cysts are benign choristomas typically found at the junction of bony sutures (most commonly the frontozygomatic suture).


– Orbital teratomas are benign germ cell tumors that are a rare cause of proptosis at birth.


EPIDEMIOLOGY


Incidence


• Orbital dermoid/epidermoid cysts (1)[C], (2)


– Incidence – Most common space-occupying orbital lesion of childhood. May comprise 30–46% of excised orbital tumors in children.


– Age at diagnosis is most commonly in infants and young children, but may be diagnosed at any age


– Sex – No predilection


• Teratomas – most commonly found in gonadal tissue, rarely involves the orbit (3)


– Incidence – Very rare in the orbit


– Age – Majority present at or shortly after birth


– Sex – 2:1 Females:Males


RISK FACTORS


None identified


PATHOPHYSIOLOGY


• Orbital dermoid/epidermoid Cysts (1)[C], (2)


– Arise from embryonic ectoderm that is sequestered between bones along fetal lines of closure


– Rarely, a dermoid/epidermoid cyst may be completely confined within orbital soft tissues without direct contact with a bony suture


– There are 3 types identified: Juxtasutural, sutural, and soft-tissue types


• Orbital teratomas (3)


– Arises from aberrant germ cells and more commonly occurs in the gonads, retroperitoneum, or mediastinum


– Tumor comprised of mature tissue derivatives from all 3 germ cell layers


COMMONLY ASSOCIATED CONDITIONS


• Orbital dermoid/epidermoid Cysts (1)


– Occasionally astigmatism


– Rarely proptosis, diplopia or motility disturbance


– No association with visual loss or elevation of intraocular pressure


• Orbital teratomas (3)


– Severe proptosis and expansion of the orbit are common


– Large masses with severe proptosis may lead to exposure keratopathy, conjunctival keratinization, corneal ulcer formation, and vascular congestion


DIAGNOSIS


HISTORY


• Orbital dermoid/epidermoid cysts (1)


– Generally asymptomatic unless they increase in size or rupture (spontaneously or with trauma) resulting in an inflammatory reaction and pain


– Rarely cause proptosis or displacement of the globe


– Growth of these lesions is typically slow


• Orbital teratomas (3)


– Rapidly growing proptosis noted at birth or early infancy


– Typically unilateral


PHYSICAL EXAM


• Orbital dermoid/epidermoid Cysts (1)[C], (2)


– Frequently presents as painless, subcutaneous mass


– Typically located in the superotemporal orbital region (frontozygomatic suture), less frequently superonasally


– On palpation are not fixed to overlying skin – they are partially mobile, smooth, and not tender to touch


– Do not affect vision or intraocular pressure


• Orbital teratomas (3)


– Tend to be more common in the left orbit


– Decreased vision (may be difficult to assess)


– Proptosis, tight eyelids, and a tense orbit may be present


– Performing transillumination may illuminate cystic areas within the mass


DIAGNOSTIC TESTS & INTERPRETATION


Imaging


• Orbital dermoid/epidermoid cysts (1)


• Initial approach


– Orbital CT (with axial and coronal views) or MRI to aid with surgical planning


– On CT – A round to ovoid lesion with distinct margins. Lumen is usually homogeneous and does not enhance with contrast.


– On MRI – A round to ovoid lesion with variable amounts of material in the lumen relatively isointense to vitreous on T1- and T2-weighted images. The wall enhances with gadolinium.


• Follow Up & Special Considerations


– Repeat imaging may be ordered when observing the lesion for growth or for any change in clinical exam


• Orbital Teratomas (3)


• Initial Approach


– Orbital CT – helpful in detecting calcification characteristic of teratomas which helps to distinguish this from other orbital lesions


– Both CT and MRI show an enlarged orbit with a multiloculated soft tissue mass


• Follow Up & Special Considerations


– Repeat imaging should be performed after surgical excision of teratoma


Pathological Findings


• Orbital dermoid/epidermoid cysts (1)[C], (4)


– Smooth, cystic structure usually white, tan, or yellow in color


– Cysts typically lined by keratinizing, stratified squamous epithelium


– Hair shafts, sebaceous glands, sweat glands, and inflammatory cells may also be found in dermoid specimens


– Histologically, epidermoid cysts have no dermal appendages (2)


• Orbital Teratomas (3)[C], (4)


– Fleshy pink mass on gross inspection – may have solid and cystic components


– Histologically contains structures representing all 3 embryonic germ layers: Ectoderm, mesoderm, and endoderm


– May be partially calcified or ossified


DIFFERENTIAL DIAGNOSIS


• If proptosis is present in an infant or child, these other processes should also be considered.


• Capillary hemangiomas also commonly present as orbital masses manifesting at birth within the first year of life (2)[C], (4)


– Orbital hemangiomas may produce proptosis or displacement of the globe and can enlarge with crying or Valsalva maneuvers


– For more information on orbital hemangiomas, please refer to the Orbit/Oculoplastics or Pediatric Section on capillary hemangiomas


• Rhabdomyosarcomas are the most common pediatric malignant orbital tumors (2)[C], (4)


– Presents with rapid proptosis in the first decade of life, with an average age of 7 years


– CT imaging shows an irregular tumor with well-defined margins, soft tissue attenuation and there is often bony destruction/erosion.


– Once a tissue diagnosis is made, systemic survey, including bone marrow biopsy, and staging should be performed


– Prognosis improved with advancements in systemic chemotherapy and radiation therapy.


• Lymphangiomas are benign congenital vascular malformations that may involve the conjunctiva, eyelids or deep orbit (2)[C], (4)


– Typically present in the first 2 decades of life


– May slowly enlarge over years but may also have sudden proptosis from an intralesional hemorrhage


– For more information on lymphangiomas, please refer to the Orbit/Oculoplastics section on vascular orbital tumors


• Optic nerve gliomas are the third most common orbital tumors in children (2)


– Most often associated with Neurofibromatosis type I (usually bilateral), but may also occur sporadically


– Mean age of 8 years at presentation


– Common presenting symptoms are proptosis and visual changes and may have headache or pain with intracranial extension


– On CT gliomas appear as a fusiform enlargement of the optic nerve


– Treatment is surgical excision


• Congenital cystic eye – failure of globe to form during embryogenesis resulting in orbital cysts composed of primitive ocular tissue (2)


• Other considerations:


– Retinoblastoma with orbital extension


– Lymphoid tumors


– Neuroblastoma


– Melanocytoma


– Orbital cellulitis


– Lacrimal mass


– Dacryops


– Abscess


– Parasitic larval cyst


– Sarcomas


– Malignant medulloepithelioma


– Fibrous dysplasia


– Mucocele


– Encephalocele


– Colobomatous cyst


TREATMENT


ADDITIONAL TREATMENT


Issues for Referral


• Orbital dermoid/epidermoid cysts


– If asymptomatic, patient may follow-up routinely with a general ophthalmologist or pediatric ophthalmologist


– If large or symptomatic (globe displacement, pain, inflamed), consider referring promptly to an oculoplastic surgeon or pediatric ophthalmologist


• Orbital teratomas


– If an orbital teratoma is suspected or confirmed by imaging, the patient should promptly be referred to an oculoplastic surgeon or pediatric ophthalmologist for surgical management.


SURGERY/OTHER PROCEDURES


• Orbital dermoid/epidermoid cysts (1)[C], (2)[C], (4)


– These benign lesions may be observed or excised surgically


– Surgery may be considered when cosmesis is an issue due to its size or if it is in a location subject to trauma and possible rupture


– Must consider risk of general anesthesia when pursuing surgical management especially in infants


– Rupture of the capsule should be avoided during removal of the cyst


• Orbital teratomas (3)[C], (4)


– Surgical excision/debulking – should aim to preserve the globe and visual function, as well as orbital/facial development and cosmesis


– Massive teratomas may require treatment with orbital exenteration


ONGOING CARE


FOLLOW-UP RECOMMENDATIONS


Patient Monitoring


• Orbital dermoid/epidermoid cysts


– If observation is elected, a general ophthalmologist, pediatric ophthalmologist, or oculoplastic surgeon may follow the patient routinely and also intervene surgically if warranted


– An oculoplastic surgeon may be most comfortable and experienced in surgically excising orbital dermoid cysts


• Orbital teratomas


– Needs regular follow-up to detect recurrences or malignant transformation


– May require further reconstructive procedures after surgical excision or exenteration


PROGNOSIS


• Orbital dermoid/epidermoid cysts (1)


– Benign lesions


– Normal vision/ocular development


• Orbital teratomas (3)


– Benign lesions


– Rarely malignant


– If the globe is salvaged, visual prognosis may be poor


COMPLICATIONS


• Orbital dermoid/epidermoid cysts (1)


– May rupture spontaneously or with trauma resulting in an intense inflammatory reaction resembling orbital cellulitis


– Very rarely, these cysts may evolve into squamous cell carcinoma


• Orbital teratomas (3)


– Surgical excision or exenteration may result in loss of vision or loss of the eye



REFERENCES


1. Castillo BV, Kaufman L. Pediatric tumors of the eye and orbit. Pediatr Clin N Am 2003;50:149–172.


2. Mehta M, Chandra M, Sen S, et al. Orbital teratoma: A rare cause of congenital proptosis. Clin Experiment Ophthalmol 2009;37:626–628.


3. Shields JA, Kaden IH, Eagle RC, et al. Orbital dermoid cysts: Clinicopathologic correlations, classification, and management. The 1997 Josephine E. Schueler Lecture. Ophthalmic Plast Reconstr Surg 1997;13:265–276.


4. Volpe NJ, Jakobiec FA. Pediatric orbital tumors. Int Ophthalmol Clin 1992;32:201–21.

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Nov 9, 2016 | Posted by in OPHTHALMOLOGY | Comments Off on Tumors: Congenital
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