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Orbital involvement in systemic mastocytosis.

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Summary

Orbital mastocytosis, a rare condition, can affect the eye, causing pain and swelling. This case highlights the first biopsy-proven instance of orbital mastocytosis in a patient with systemic mastocytosis.

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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.