Orbital involvement in systemic mastocytosis

Area of Science:

• Ophthalmology
• Oncology
• Hematology

Background:

• Systemic mastocytosis is a rare disorder characterized by the abnormal proliferation of mast cells.
• Ocular involvement in systemic mastocytosis is uncommon, with varied presentations.
• Orbital involvement specifically requires further investigation due to its rarity.

Observation:

• A 61-year-old female with a history of systemic mastocytosis presented with acute painful and reddened right eye with painful ocular movements.
• Ocular examination revealed conjunctival injection, chemosis, and 2 mm of right proptosis.
• CT scans demonstrated an intra-conal lesion and lacrimal gland enlargement in the right orbit.

Findings:

• Histopathology of a diagnostic biopsy confirmed orbital mastocytosis.
• This represents the first biopsy-proven case of orbital mastocytosis in the medical literature.
• The patient's visual acuity remained unaffected (6/6 in both eyes).

Implications:

• This case underscores the importance of considering orbital mastocytosis in patients with systemic mastocytosis and new-onset ocular symptoms.
• Biopsy confirmation is crucial for accurate diagnosis and appropriate management of orbital lesions in mastocytosis.
• Further research is warranted to understand the pathogenesis and optimize treatment strategies for orbital mastocytosis.