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

Stay updated, free articles. Join our Telegram channel

Join