Phakomatous Choristoma

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Disease Entity

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Disease

Phakomatous choristoma (PC) is a rare benign congenital tumor consisting of ectopic lenticular tissue. It was first described by Dr Zimmerman in 1971 as a mass typically located in the lower eyelid.

Etiology

Histopathological analysis showing fibrocellular tissue infiltrated with cords and aggregates of lens epithelium and associated lens protein.

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Risk Factors

There are no risk factors known to date.

General Pathology

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Pathophysiology

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Primary prevention

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Diagnosis

Clinical exam, radiological imaging and histopathology can aid in diagnosis. Histopathological findings of pseudoglandular structures and aggregates of cuboidal epithelial cells surrounded by thick basement membrane share similarities to the cortex of normal and cataractous lenses.3,8Immunohistochemical staining is typically positive for S-100 protein; alpha, beta, and gamma crystallines, which are lens-specific proteins; and vimentin, an intermediate filament normally found in lens epithelial

History

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Physical examination

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Signs

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Symptoms

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Clinical diagnosis

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Diagnostic procedures

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Laboratory test

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Differential diagnosis

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Management

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General treatment

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Medical therapy

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Medical follow up

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Surgery

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Surgical follow up

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Complications

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Prognosis

The prognosis is excellent for this benign tumor as there have been no reports of recurrences or morbidity.

Additional Resources

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References

1.         Seregard S. Phakomatous choristoma may be located in the eyelid or orbit or both. Acta Ophthalmologica Scandinavica. 1999;77(3):343-346.

2.         Otto J, Sorge I, Horn LC, Sterker I. Magnetic resonance imaging of a phakomatous choristoma. Pediatr Radiol. 2015;45(11):1712-1715.

3.         Zimmerman LE. Phakomatous choristoma of the eyelid. A tumor of lenticular anlage. Am J Ophthalmol. 1971;71(1 Pt 2):169-177.

4.         Romano RC, McDonough P, Salomao DR, Fritchie KJ. Phakomatous choristoma in a 10-week-old boy: a case report and review of the literature. Pediatr Dermatol. 2015;32(3):405-409.

5.         Harris BF, Harris JP, Ducey TJ, Boden JH, Yakopson VS. Phakomatous Choristoma of the Orbit With Involvement of the Inferior Oblique Muscle. Ophthalmic Plast Reconstr Surg. 2019;35(1):e10-e19.

6.         Ellis FJ, Eagle RC, Jr., Shields JA, Shields CL, Fessler JN, Takemoto LJ. Phakomatous choristoma (Zimmerman's tumor). Immunohistochemical confirmation of lens-specific proteins. Ophthalmology. 1993;100(6):955-960.

7.         Rafizadeh SM, Ghadimi H, Nozarian Z. Phakomatous Choristoma of the Eyelid and Orbit: A Case Report. Pediatr Dev Pathol. 2020;23(4):296-300.

8.         McMahon RT, Font RL, McLean IW. Phakomatous choristoma of eyelid: electron microscopical confirmation of lenticular derivation. Arch Ophthalmol. 1976;94(10):1778-1781.

9.         Rosenbaum PS, Kress Y, Slamovits TL, Font RL. Phakomatous choristoma of the eyelid. Immunohistochemical and electron microscopic observations. Ophthalmology. 1992;99(12):1779-1784.

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