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Rapid growth of an epibulbar complex choristoma in organoid nevus syndrome

      A 6-year-old male presented with a large, fleshy mass protruding from the left eye that has been rapidly enlarging for 4 weeks before presentation (Fig. 1A). Since infancy, he manifested with mental retardation, right hemiparesis, motor seizures, and he underwent surgical correction of an undescended testicle. His photograph at the age of 10 months revealed left eye esotropia, hazy cornea, and a flat red lesion on the temporal conjunctiva (Fig. 1B). On examination, the patient exhibited frontoparietal alopecia, faint scalp nevus, multiple eyelid and periocular skin tags, and dental anomalies. A smooth subcutaneous fullness at the left temple was previously biopsied and diagnosed as lipoma. Previous three-dimensional computed tomographic scanning images showed multiple skull defects (Fig. 1C), and magnetic resonance images showed atrophy of the left cerebral hemisphere, with widening of the left lateral ventricle (Fig. 1D). Ophthalmic examination under anaesthesia disclosed a pedunculated epibulbar mass of approximately 2×3 cm originating from the superior temporal conjunctiva overhanging the eye and lower eyelid. The mass was soft with cystlike consistency, irreducible, and nonpulsatile. The findings suggested manifestations of organoid nevus syndrome, which is typically associated with epibulbar choristoma. However, the nature of the bizarre rapid growth of this epibulbar mass was elusive. An incisional biopsy at the mass apex revealed conjunctival subepithelial nonspecific inflammation without evidence of malignancy. Oral amoxicillin clavulanate 250 mg, twice daily, for a week was prescribed. Two weeks later, the epibulbar mass showed further significant enlargement with spontaneous bleeding, which prompted excision biopsy (Fig. 2A). Surgically, the mass was dissected at its base that was attached to the limbus and the upper and lateral conjunctival fornices by using alternate applications of prophylactic bipolar diathermy and small-snips scissors dissection (Fig. 2B). The mass was not adhering to sclera, and the conjunctival surgical defect could be reconstructed with a local flap from the residual redundant conjunctiva. Left eye examination demonstrated translucent microcornea with a thick white plaque at the limbus laterally. The anterior chamber appeared shallow with pupillary dysgenesis that precluded fundus viewing (Fig. 2C). Intraoperative B-scan ultrasonography revealed a normal-sized eye with an echogenic lesion involving posterior sclera (Fig. 2D). Histopathologic analysis of the mass demonstrated conjunctival stratified squamous epithelium at the surface, with subepithelial inflammatory cellular infiltrates, mainly lymphocytes, and dilated vascular channels (Fig. 3A). The main mass volume was predominantly myxomatous with dispersed collagen fibres and blood vessels (Fig. 3B). Focal areas of serous glandular ducts and acini, presumably lacrimal, were detected (Fig. 3C). Adipose tissue was present near the base of the mass (Fig. 3D). These findings were consistent with complex choristoma with subepithelial inflammation and myxomatous tissue, with no evidence of malignancy. No subsequent regrowth occurred in the following 3 years.
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      Fig. 1A, External photo shows large, fleshy mass protruding from the left eye in a patient exhibiting left frontoparietal alopecia, faint scalp nevus, multiple eyelid and periocular skin tags, and subcutaneous temporal lipoma. B, Photograph of patient at age 10 months showing left eye esotropia, hazy cornea, and a flat red lesion on the temporal conjunctiva. C, Three-dimensional computed tomographic scan shows multiple skull defects. D, Magnetic resonance imaging shows atrophy of the left cerebral hemisphere and widening of the left lateral ventricle.
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      Fig. 2A, Significant enlargement of the epibulbar mass after 2 weeks. B, Epibulbar mass after excision at the base, and reconstruction of the conjunctiva with a local flap, exposing the left eye underneath. C, The left eye shows translucent microcornea with a thick white plaque at the limbus laterally. D, B-scan ultrasonography shows a hyperreflective lesion involving posterior sclera.
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      Fig. 3Photomicrographs of the histopathology of the epibulbar mass showing multiple tissues in complex choristoma (hematoxylin and eosin staining; original magnification×12.5). A, Conjunctival stratified squamous epithelium at the surface, with subepithelial inflammatory cellular infiltrates, mainly lymphocytes, and dilated vascular channels. B, The main mass volume is predominantly myxomatous with dispersed collagen fibres and blood vessels. C, Focal areas of serous glandular ducts and acini. D, Adipose tissue is present near the base of the mass.
      Organoid nevus syndrome, first described by Jadassohn,
      • Jadassohn J.
      Bemerkungen zur Histologie der systematisirten Naevi und uber ‘Talgdrusen-Naevi.’.
      is a congenital, nonhereditary phacomatosis that encompasses numerous cutaneous, neurologic, and ocular manifestations.
      • Jadassohn J.
      Bemerkungen zur Histologie der systematisirten Naevi und uber ‘Talgdrusen-Naevi.’.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr, R.C.
      • et al.
      Ocular manifestations of the organoid nevus syndrome.
      • Clancy R.R.
      • Kurtz M.B.
      • Baker D.
      • et al.
      Neurologic manifestations of the organoid nevus syndrome.
      • Insler M.S.
      • Davlin L.
      Ocular findings in linear sebaceous naevus syndrome.
      This syndrome presumably results from a lateralized disorder in the proliferation, differentiation, and migration of neuroectoderm in early embryogenesis.
      • Clancy R.R.
      • Kurtz M.B.
      • Baker D.
      • et al.
      Neurologic manifestations of the organoid nevus syndrome.
      Our patient displayed the typical manifestations of organoid nevus syndrome, but he developed an unusual, rapidly enlarging, pedunculated, epibulbar mass that raised the suspicion of a malignant lesion. Several histopathologic types of epibulbar lesions have been described in organoid nevus syndrome, including dermoid, lipodermoid, presumed hemangioma, and simple and complex choristoma.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr, R.C.
      • et al.
      Ocular manifestations of the organoid nevus syndrome.
      • Insler M.S.
      • Davlin L.
      Ocular findings in linear sebaceous naevus syndrome.
      • Duncan J.L.
      • Golabi M.
      • Fredrick D.R.
      • et al.
      Complex limbal choristomas in linear nevus sebaceous syndrome.
      Contrary to the single-tissue structure of simple choristoma, complex choristoma contains≥2 ectopic tissues. The epibulbar mass in our patient was a complex choristoma enclosing glandular, myxomatous, and adipose tissues. Although epibulbar complex choristoma is regarded as a congenital stationary lesion, few reports demonstrated slow progressive growth.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr, R.C.
      • et al.
      Ocular manifestations of the organoid nevus syndrome.
      • Brihaye J.
      • Brihaye-van Geertruyden M.
      • Retif J.
      • et al.
      Late occurrence of additional ocular and intracranial pathologies in the linear naevus sebaceous (Feuerstein-Mims) syndrome.
      • Trubnik V.
      • Conley R.
      • Ritterband D.C.
      • et al.
      Progressive growth in epibulbar complex choristomas: report of 2 cases and review of literature.
      The mechanism of the rapid growth as manifested in our patient that was alarming for a malignant process is ambiguous. Roth and Keltner
      • Roth A.M.
      • Keltner J.L.
      Linear nevus sebaceous syndrome.
      reported a similar considerable growth of a complex choristoma over 4 weeks in a patient with organoid nevus syndrome. The authors attributed this high growth rate to an inflammatory reaction, as evidenced by increased vascularity, inflammatory cellular infiltration, and reactive epithelial hyperplasia, as demonstrated in their case.
      • Roth A.M.
      • Keltner J.L.
      Linear nevus sebaceous syndrome.
      Trubnik et al.,
      • Trubnik V.
      • Conley R.
      • Ritterband D.C.
      • et al.
      Progressive growth in epibulbar complex choristomas: report of 2 cases and review of literature.
      in a report on 2 cases, concurred with the possibility of a reactive process secondary to inflammation, trauma, or hormonal factors. Our patient, however, did not display the systemic or local signs of inflammation. Conversely, he showed continued rapid enlargement of his choristoma despite broad-spectrum antibiotic therapy. Interestingly, Shields et al.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr, R.C.
      • et al.
      Ocular manifestations of the organoid nevus syndrome.
      have observed that the choristomas that were reported to manifest progressive growth harboured myxomatous tissue. Presence of myxomatous tissue is associated with the deposition of glycosaminoglycans including hyaluronic acid, which has a strong water-binding capacity.
      • Asboe-Hansen G.
      The pathogenesis of cutaneous myxedema.
      The resulting osmotic edema may have caused the rapid swelling of the choristoma. This could explain the soft cystlike consistency from the high water content as observed in the myxomatous choristoma of our patient. Moreover, the choristomas in those reports suggesting inflammatory response as a causative factor for rapid lesion expansion have also disclosed myxomatous stroma.
      • Shields J.A.
      • Shields C.L.
      • Eagle Jr, R.C.
      • et al.
      Ocular manifestations of the organoid nevus syndrome.
      • Trubnik V.
      • Conley R.
      • Ritterband D.C.
      • et al.
      Progressive growth in epibulbar complex choristomas: report of 2 cases and review of literature.
      • Roth A.M.
      • Keltner J.L.
      Linear nevus sebaceous syndrome.
      It is thus possible that tissue edema resulting from deposition of hydrophilic myxomatous stromal matrix could have contributed to the pathogenesis of this unusual rapid expansion of the choristoma in this patient.

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