What is the management of a soft, slightly movable mass on the upper orbit near the upper eyelid?

Management of Soft, Slightly Movable Upper Eyelid/Orbital Mass

The first priority is to determine whether this represents a plexiform neurofibroma (especially in children under 5 years), which should never be biopsied if neurofibromatosis type 1 (NF1) is suspected, versus other benign lesions like dermoid cysts or malignancies like lymphoma or sebaceous carcinoma that require tissue diagnosis. 1

Initial Clinical Assessment

Age-Based Risk Stratification

• Children under 5 years: Plexiform neurofibroma is the primary concern, with most cases identified before age 5 2
• Elderly patients (5th-9th decade): Malignancy risk increases significantly, particularly sebaceous carcinoma and lymphoma 1

Critical Physical Examination Findings

Texture and Mobility Characteristics:

• "Bag of worms" texture strongly suggests plexiform neurofibroma 2, 1
• Smooth, mobile, non-tender mass at superotemporal or superonasal rim suggests dermoid/epidermoid cyst 1
• Hard, nodular, nonmobile mass with yellowish discoloration suggests sebaceous carcinoma 1
• Painless, pink, indolent fleshy "salmon patch" appearance suggests lymphoma 1

Sinister Features Requiring Immediate Concern:

• Lash loss (madarosis) 1
• Induration or fixation to underlying structures 1
• Yellowish discoloration or pearly appearance 1
• Recurrence after previous excision, especially multiple "chalazion" excisions at the same site 1
• Chronic unilateral blepharitis unresponsive to therapy 1

NF1 Stigmata Assessment:

• Café-au-lait spots 1
• Axillary freckling 1
• Lisch nodules on slit-lamp examination 1

Associated Ophthalmic Findings

• Blepharoptosis occurs in nearly 100% of orbital-periorbital plexiform neurofibromas (OPPNs) 2
• Proptosis present in over 50% of OPPNs 2
• Concurrent eyelid edema may be present with plexiform neurofibroma 2, 1
• Strabismus should be documented 2

Diagnostic Imaging Algorithm

For Suspected Plexiform Neurofibroma

MRI of brain and orbits with and without contrast is mandatory for all suspected plexiform neurofibromas, even if the mass appears isolated to the eyelid, because external examination cannot reveal the full extent of the tumor. 2, 1

• High-resolution MRI with axial and coronal STIR sequences without gaps between slices is required for volumetric analysis 2
• Standard brain MRI protocols may miss orbital pathology 1
• CT orbits with contrast provides complementary information about orbital volumes and osseous anatomy 3

For Other Suspected Lesions

• MRI orbits without and with contrast for suspected orbital mass with proptosis 4
• Patients with ptosis confined to upper eyelid without other neurological symptoms typically do not require advanced neuroimaging as first-line investigation 4

Biopsy Decision Algorithm

NEVER BIOPSY:

• Do not biopsy suspected plexiform neurofibroma in children with known or suspected NF1 2, 1
• If NF1 diagnosis has not been established, formal consultation with an NF1 expert physician is required before considering biopsy 2

PROCEED WITH BIOPSY:

• Any mass with sinister features (madarosis, induration, pigmentation, pearly appearance, recurrence) 1
• Recurrent "chalazia" in elderly patients 1
• Suspected lymphoma or other malignancy 1, 5
• Diagnostic orbital tissue biopsy obtained through minimally invasive orbitotomy or fine needle aspiration in selected cases 5

Management Based on Diagnosis

Plexiform Neurofibroma Management

Monitoring Protocol:

• Comprehensive ophthalmologic examination every 6 months until visual maturity in children with OPPN, as highest risk for rapid growth occurs before age 8 2, 3
• After visual maturity, examination frequency guided by clinical course 2

Indications for Intervention:

• Visual decline or risk to vision 2, 3
• Progressive tumor growth involving vital structures 2
• New or worsening functional deficits 3
• Progressive disfigurement 3

Treatment Options:

• Selumetinib (MEK inhibitor) is FDA-approved for children aged 2 years and older with NF1 who have symptomatic, inoperable plexiform neurofibromas, producing clinically meaningful tumor shrinkage and functional improvement 3
• Early intervention with selumetinib may prevent progression and facial disfigurement in children with established but small OPPNs 3
• Trametinib can be used as alternative MEK inhibitor when selumetinib is unavailable 3
• Debulking surgery may be indicated for visual decline, progressive tumor growth, or progressive disfigurement, but complete removal is feasible in only a small subset of patients 2
• Continued tumor growth after surgery is common, particularly in head/neck tumors and younger patients 2

Supportive Care:

• Treat related ophthalmic issues such as ptosis, lacrimal involvement, or amblyopia with early intervention 2
• Manage amblyopia and refractive error aggressively 2
• Defer strabismus surgery until tumor growth has stabilized, as surgery during rapid growth phase carries high recurrence risk 2

Dermoid/Epidermoid Cyst Management

• Surgical excision is definitive treatment 1
• Complete removal with intact capsule prevents recurrence 1

Malignancy Management

• Lymphoma: Excisional biopsy for tissue diagnosis, followed by systemic workup and oncology referral 1, 6
• Sebaceous carcinoma: Wide excision with frozen section control of margins, followed by adjuvant therapy as indicated 1, 7

Critical Pitfalls to Avoid

• Do not assume soft, mobile mass is benign—sebaceous carcinoma and lymphoma can mimic benign lesions 1
• Do not dismiss recurrent "chalazia" in elderly patients without considering sebaceous carcinoma 1
• Do not perform biopsy on suspected plexiform neurofibroma in NF1 patients 2, 1
• Do not defer ophthalmologic intervention for amblyopia in children with OPPN—manage aggressively 2
• Do not perform strabismus surgery during rapid tumor growth phase 2

Multidisciplinary Coordination

For plexiform neurofibromas, coordinate care through specialized NF1 clinic with core team including medical genetics, neurology, oncology, ophthalmology, orthopedics, and dermatology. 3