Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Traboulsi, Elias I.; Zin, Andréa; Massicotte, Stephen J.; Kosmorsky, Gregory S.; Kotagal, Prakash; Ellis, Forrest D.

doi:10.1016/s0161-6420(99)90494-3

Cited by 40 publications

(13 citation statements)

References 16 publications

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“…The intrascleral calcific plaques demonstrated in both cases are consistent with descriptions from the series of Shields et al 4 and Traboulsi et al 5 Erroneously described in the past as choroidal osteomas or chorioretinal colobomas, these creamy calcific lesions lie deep to the choroid, as shown in Figures 1 and 3. Histopathology from two enucleation specimens demonstrated intrascleral cartilage and bone formation in such lesions.…”

Section: Discussionsupporting

confidence: 89%

“…Histopathology from two enucleation specimens demonstrated intrascleral cartilage and bone formation in such lesions. 4,5 Histopathology from one specimen also detailed an attenuated choroid devoid of melanocytes with normal photoreceptors and retinal pigment epithelium. 4 These scleral plaques are believed to correlate with the anterior choristomas commonly associated with ONS.…”

Section: Discussionmentioning

confidence: 99%

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Posterior Scleral Choristomas and Trigeminal Lipoma in the Organoid Nevus Syndrome

Oliver¹,

Ciardella²,

Sands³

et al. 2007

RETINAL Cases &Amp; Brief Reports

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The organoid nevus syndrome is a rare neuromyocutaneous disorder. The authors describe two cases of variable severity, document posterior scleral calcific choristomas associated with limbal choristomas, discuss surgical management, and describe a new finding of trigeminal lipoma.O rganoid nevus syndrome (ONS), known also as linear nevus sebaceous syndrome (LNSS) or Schimmelpenning-Feuerstein-Mims (SFM), is a neuromyocutaneous disorder of somatic mosaicism with multiple ocular, neurologic, and dermatologic abnormalities. The majority of cases are diagnosed in early childhood, and the severity of defects is highly variable. The most characteristic ocular manifestations include epibulbar choristoma, eyelid coloboma, and calcified posterior scleral choristoma. We report two cases of ONS with these defects, discuss the variable outcome in their treatment, and report a new finding of trigeminal lipoma in one case. Case Reports Case 1A 6-year-old boy, product of a normal gestation and delivery, was referred for evaluation of a right epibulbar choristoma, left lipodermoids, and left upper eyelid coloboma. A sebaceous nevus (linear sebaceous nevus of Jadassohn) extended from the left malar eminence into the scalp. Systemic workup was negative, and he did not have seizures. Bilateral white intrascleral opacities extended superonasally from the optic nerve (Figure 1). Visual acuity was 20/20 bilaterally. The epibulbar choristoma and lipodermoids were excised and the eyelid coloboma was repaired without complication. Case 2A 1-day-old girl, product of an uncomplicated gestation and delivery, was referred for eyelid and corneal malformations. A sebaceous nevus extended from the left midface into the scalp. Eyes blinked to light, pupils were reactive, and intraocular pressures were normal. A 50% left upper lid coloboma with a pedunculated polyp at the left lateral canthus was present. A left epibulbar choristoma extended from the colobomatous lid skin to the superior limbus ( Figure 2); a smaller choristoma was present contralaterally. Bilateral patchy corneal neovascularization and corectopia were present. The left crystalline lens exhibited nasal cortical opacification. Funduscopy revealed bilateral optic nerve hypoplasia and bilateral superonasal creamy white patches deep to the retina (Figure 3). Ultrasound and computed tomography demonstrated calcification of these intrascleral lesions. Magnetic resonance imaging demonstrated hypoplastic extraocular muscles, medial tethering of the left optic nerve, bilateral optic nerve hypoplasia, left temporal lobe hypoplasia, a large temporal arachnoid cyst, and a T1 hyperintense lesion along the trigeminal nerve, consistent with trigeminal lipoma (Figure 4). Remaining systemic workup was negative.Hypoglobus and fixed hypotropia of the left eye in Case 2 persisted despite debulking the anterior choristoma and mobilization of the eyelid. Left corneal neovascularization partially obscured the visual axis. The left upper eyelid defect was closed by Supported by the

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Posterior Scleral Choristomas and Trigeminal Lipoma in the Organoid Nevus Syndrome

Oliver¹,

Ciardella²,

Sands³

et al. 2007

RETINAL Cases &Amp; Brief Reports

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“…Ocular complications described include tumors of the eyelid, conjunctiva, cornea, or sclera; coloboma of the eyelid, iris, choroids, or retina; strabismus; nystagmus; corneal opacities; vitreous opacities; and ossification in the sclera. 4 As the eye contains various tissues originating from the surface ectoderm, mesoderm, and neuroectoderm, abnormal differentiation may take place in ocular tissues associated with epidermal nevus syndrome.…”

Section: Discussionmentioning

confidence: 99%

Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue

2010

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“…1 Osseous choristoma is the rarest form of ocular choristoma and typically occurs sporadically in the superotemporal episclera 1-6 (although there have been rare case reports of other episcleral locations, 5 more commonly in the nevus sebaceus of Jadassohn syndrome). 8 The lesion is usually stable without appreciable growth; excision is indicated if the lesion is symptomatic or of cosmetic concern. 1-6 Histopathology shows mature, compact bone surrounded by fibrous connective tissue.…”

Section: Discussionmentioning

confidence: 99%

Osseous choristoma of the lateral canthus

Khan¹,

Al-Hussein²,

Alkatan³

2007

Journal of American Association for Pediatric Ophthalmology and

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Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn)

Cited by 40 publications

References 16 publications

Posterior Scleral Choristomas and Trigeminal Lipoma in the Organoid Nevus Syndrome

Posterior Scleral Choristomas and Trigeminal Lipoma in the Organoid Nevus Syndrome

Epidermal nevus syndrome associated with anterior scleral staphyloma and ectopic bone and cartilaginous intraocular tissue

Osseous choristoma of the lateral canthus

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