Magnetic resonance imaging of a phakomatous choristoma

Otto, Josephin; Sorge, Ina; Horn, Lars‐Christian; Sterker, Ina

doi:10.1007/s00247-015-3376-y

Cited by 5 publications

(4 citation statements)

References 8 publications

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“…1–24 The site of the lesion has been either the eyelids or the anterior orbit. 1–24 However, there has been one instance of its occurrence in the corneal stroma. 25 The natural history of phakomatous choristoma is not known.…”

Section: Discussionmentioning

confidence: 99%

“…6 In some of the previously reported cases, the mass had remained unchanged in size since birth, 9,11,12,14–16,18,22 whereas in several others gradual increase in the size of the lesion had been recorded. 1,2,4–6,8,10,17,23,24…”

Section: Discussionmentioning

confidence: 99%

“…1 By present, 26 cases of this extremely rare tumor have been reported in the literature. 1–24 With the exception of one case from Turkey, 21 there are no other reports from the Middle East countries. Herein, we present a case of phakomatous choristoma in an infant from Iran.…”

Section: Introductionmentioning

confidence: 99%

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Phakomatous Choristoma of the Eyelid and Orbit: A Case Report

2019

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Phakomatous choristoma was first described as a distinct pathologic entity by Zimmerman in 1971. Report of only 26 cases of this tumor so far is an indicator of the rarity of phakomatous choristoma. We present a 4-month-old infant with an orbital mass beneath the right lower eyelid. Surgical excision was undertaken and the histopathologic findings of a dense fibrocollagenous stroma containing small to medium size islands and glandular-like structures surrounded by thick basement membrane and filled by amorphous eosinophilic material confirmed the diagnosis. Immunohistochemical study showed positive staining for S-100 and vimentin and negative staining for cytokeratins, glial fibrillary acidic protein, smooth muscle actin, synaptophysin, CD34, melan-A, and epithelial membrane antigen markers. This is the first patient with phakomatous choristoma presented from our country and the 27th reported case worldwide. Phakomatous choristoma is a rare, benign congenital tumor of lenticular anlage, almost always presenting in the medial lower eyelid and anterior orbit. Surgical excision is curative and allows precise diagnosis due to the unique histopathologic and immunostaining characteristics of this choristoma.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Phakomatous Choristoma of the Eyelid and Orbit: A Case Report

2019

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“…Postseptal extension is common, with few reports documenting tumors isolated to the eyelid or orbit alone. 1,2 Definitive diagnosis is made with routine hematoxylin and eosin (H&E) stain demonstrating the tumor's histological similarities to lenticular tissue. If further characterization is warranted, periodic acid Schiff (PAS) stain highlighting the thick basement membrane delineating the epithelial islands, and immunohistochemical (IHC) staining for vimentin, S-100, and lens-specific proteins, can help corroborate the diagnosis and correctly differentiate PC from malignant neoplasms.…”

mentioning

confidence: 99%

Phakomatous Choristomas: A Case Report and Review of Literature

Jung

Avila

Gordon

et al. 2022

Ophthalmic Plastic &Amp; Reconstructive Surgery

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To document a case of phakomatous choristoma (PC), a rare benign periocular tumor, and to review the literature on previously reported cases.Methods: The authors describe a case of PC and its clinical, histopathological, immunohistochemical, and radiological features, and present findings from a comprehensive review of all previously reported cases of this rare pediatric tumor.Results: This case report and review highlights the benign clinical nature of PC. It typically presents at birth as a lower eyelid mass involving the orbit. Definitive diagnosis is made with hematoxylin and eosin stain showing the tumor's histological similarities to lenticular tissue.Conclusion: PC remains a rare entity that should be included in the differential of pediatric eyelid lesions. Surgical excision is curative, and the postoperative clinical course is unremarkable as there have been no reports of recurrence. Prompt recognition and surgical intervention may be warranted due to astigmatism and anisometropia induced by mass effect.

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