Journal of Pediatric Ophthalmology and Strabismus

Short Subjects 

Calcified Scleral Choristoma in Organoid Nevus Syndrome Simulating Retinoblastoma

Charlotte Nelle Shields; Carol L. Shields, MD; Chris J. Lin, BA; Sheryl J. Menacker, MD; Jerry A. Shields, MD

Abstract

A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the mass was of choroidal or scleral origin, underlying the retina. The amelanotic circumpapillary mass extended superonasally in a geographic configuration and measured 14 × 12 mm. There was no subretinal fluid, hemorrhage, feeder vessels, or tumor seeding. Ocular ultrasonography confirmed a homogeneous calcified intraocular mass 3.1 mm in thickness. Enhanced depth imaging optical coherence tomography revealed that the lesion was located within the sclera compressing the overlying choroidal tissue. Further evaluation disclosed cutaneous aplasia cutis congenita with nevus sebaceous of Jadassohn. Magnetic resonance imaging disclosed an arachnoid cyst of the brain. Later, optical coherence tomography revealed the mass to be in the deep choroid or within the sclera. This constellation of ocular, cutaneous, and neurological features were suggestive of organoid nevus syndrome. At the 2-year follow-up, the findings were stable. The calcified choristoma of organoid nevus syndrome, located within the sclera in this case, has distinctive clinical features that differentiate this benign tumor from retinoblastoma. [J Pediatr Ophthalmol Strabismus 2014;51:e1–e3.]

From the Ocular Oncology Service,Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (CNS, CLS, CJL, SJM, JAS); and Tri-County Eye Physicians and Surgeons, Southampton, Pennsylvania (SJM).

Supported by the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (CLS).

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Carol L. Shields, MD, Ocular Oncology Service, Suite 1440, Wills Eye Institute, 840 Walnut Street, Philadelphia, PA 19107. E-mail: carolshields@gmail.com

Received: July 21, 2013
Accepted: October 16, 2013
Posted Online: January 14, 2014

Abstract

A child referred for management of retinoblastoma who alternatively had a calcified scleral choristoma as part of previously undiagnosed organoid nevus syndrome is described. A 31-month-old male infant with scalp alopecia was referred for retinoblastoma management after a calcified mass in his left eye was found. Ophthalmic examination revealed the mass was of choroidal or scleral origin, underlying the retina. The amelanotic circumpapillary mass extended superonasally in a geographic configuration and measured 14 × 12 mm. There was no subretinal fluid, hemorrhage, feeder vessels, or tumor seeding. Ocular ultrasonography confirmed a homogeneous calcified intraocular mass 3.1 mm in thickness. Enhanced depth imaging optical coherence tomography revealed that the lesion was located within the sclera compressing the overlying choroidal tissue. Further evaluation disclosed cutaneous aplasia cutis congenita with nevus sebaceous of Jadassohn. Magnetic resonance imaging disclosed an arachnoid cyst of the brain. Later, optical coherence tomography revealed the mass to be in the deep choroid or within the sclera. This constellation of ocular, cutaneous, and neurological features were suggestive of organoid nevus syndrome. At the 2-year follow-up, the findings were stable. The calcified choristoma of organoid nevus syndrome, located within the sclera in this case, has distinctive clinical features that differentiate this benign tumor from retinoblastoma. [J Pediatr Ophthalmol Strabismus 2014;51:e1–e3.]

From the Ocular Oncology Service,Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (CNS, CLS, CJL, SJM, JAS); and Tri-County Eye Physicians and Surgeons, Southampton, Pennsylvania (SJM).

Supported by the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (CLS).

The authors have no financial or proprietary interest in the materials presented herein.

Correspondence: Carol L. Shields, MD, Ocular Oncology Service, Suite 1440, Wills Eye Institute, 840 Walnut Street, Philadelphia, PA 19107. E-mail: carolshields@gmail.com

Received: July 21, 2013
Accepted: October 16, 2013
Posted Online: January 14, 2014

Introduction

Organoid nevus syndrome (OMIM #163200), also known as Solomon’s syndrome or Schimmel-penning-Feuerstein-Mims syndrome, is a condition comprising a spectrum of clinical features involving the skin, brain, and eye.1–5 This condition affects 1 to 3 per 1,000 live births.1 The most common cutaneous manifestation is nevus sebaceous of Jadassohn that appears at birth as a relatively flat patch of alopecia, referred to as aplasia cutis congenita, and later showing thickened verrucous changes.2 This skin condition carries 15% to 20% risk for development of basal cell carcinoma or other adnexal tumors.3 The neurologic manifestations include seizures and mental deficiency, often detected within the first year of life. Other neurologic features include arachnoid cyst, leptomeningeal hemangiomas, meningoencephaloangioneuronomatosis, and cerebral cortical atrophy. The ocular features of organoid nevus syndrome include epibulbar complex choristoma, coloboma of the eyelid, uvea, or optic disc, oculomotor nerve palsy, and choroidal/scleral osseous or cartilaginous choristoma.3,4 Along with these findings, there are other protean systemic associations including congenital cardiac, renal, and liver abnormalities.

The posterior fundus lesion in organoid nevus syndrome has been previously labeled as coloboma or choristoma of either osteoid or cartilaginous origin and located in the peripapillary choroid, sclera, or episclera. Shields et al. provided histopathologic evidence that the calcified peripapillary mass was intrascleral cartilaginous choristoma, similar to the epibulbar choristoma that also occurs in this syndrome.3 Traboulsi et al. observed that this peripapillary choristoma comprised intrascleral bone and episcleral bone and cartilage.4

Calcification in the eye can be misinterpreted as retinoblastoma, particularly in a child. In an analysis of 604 eyes with lesions mistaken for retinoblastoma, only 3 (< 1%) proved to be choroidal osseous choristoma and none were cartilaginous choristoma.5 Herein, we report a 3-year-old child referred with the diagnosis of a calcified intraocular mass with suspicion for retinoblastoma but found to have a calcified scleral choristoma, subsequently recognized as part of organoid nevus syndrome.

Case Report

A 31-month-old male infant was noted at birth to have scalp alopecia in the left temporal region, labeled as aplasia cutis congenita (Figure 1). Ocular examination disclosed a yellow, juxtapapillary intraocular tumor with calcification on ultrasonography, suspicious for retinoblastoma.

A 31-month-old male infant with organoid nevus syndrome. (A) Scalp alopecia in the left temporal region. (B) Broad area of alopecia with two sites of hypopigmented, thickened sebaceous hyperplasia, consistent with linear nevus sebaceous of Jadassohn. Magnetic resonance imaging, (C) T1-weighted with gadolinium contrast and (D) T-2 weighted, shows orbit within normal limits. Note the thin placoid mass in the left eye with (C) bright signal (white arrow) and (D) low signal (black arrow), appearing to reside in the sclera. In the brain, there is broad low signal in (A) the left temporal region that proved to be arachnoid cyst.

Figure 1.

A 31-month-old male infant with organoid nevus syndrome. (A) Scalp alopecia in the left temporal region. (B) Broad area of alopecia with two sites of hypopigmented, thickened sebaceous hyperplasia, consistent with linear nevus sebaceous of Jadassohn. Magnetic resonance imaging, (C) T1-weighted with gadolinium contrast and (D) T-2 weighted, shows orbit within normal limits. Note the thin placoid mass in the left eye with (C) bright signal (white arrow) and (D) low signal (black arrow), appearing to reside in the sclera. In the brain, there is broad low signal in (A) the left temporal region that proved to be arachnoid cyst.

On our examination, visual acuity was fix and follow in both eyes. Intraocular pressure was normal by finger tension in both eyes. There was no nystagmus, ocular dysmotility, or eyelid or uveal coloboma. Fundus evaluation of the right eye was normal. Fundus evaluation of the left eye disclosed a mass underlying the retina involving the superonasal quadrant with peripapillary involvement (Figure 2). The tumor basal dimension measured 14 × 12 mm. There were no feeder vessels, subretinal fluid, retinal hemorrhage, or tumor seeding. Ultrasonography confirmed a highly reflective intraocular mass of 3.1 mm in thickness and suggestive of calcification. Fluorescein angiography showed hyperfluorescence of the mass with late staining and no leakage. These findings were consistent with a calcified choroidal or scleral choristoma; observation was advised. Subsequent enhanced depth imaging optical coherence tomography revealed that the lesion was located within the sclera compressing the overlying choroidal tissue.

Fundus features in organoid nevus syndrome. (A) Normal right fundus. (B) The left fundus displays a geographic, amelanotic choroidal mass with undulating, smooth surface and retinal pigment epithelial alterations surrounding the optic disc. (C) At 19 seconds, intravenous fluorescein angiography shows (D) hyperflourescence without leakage at 133 seconds. (E) Ocular ultrasonography reveals an echogenic mass with deep shadowing consistent with calcification. (F) Enhanced depth imaging optical coherence tomography discloses shallow subretinal fluid with photoreceptor atrophy (to the left). The choroid appears compressed with a mass at the level of the sclera causing elevation. The arrows point to choroid–scleral junction.

Figure 2.

Fundus features in organoid nevus syndrome. (A) Normal right fundus. (B) The left fundus displays a geographic, amelanotic choroidal mass with undulating, smooth surface and retinal pigment epithelial alterations surrounding the optic disc. (C) At 19 seconds, intravenous fluorescein angiography shows (D) hyperflourescence without leakage at 133 seconds. (E) Ocular ultrasonography reveals an echogenic mass with deep shadowing consistent with calcification. (F) Enhanced depth imaging optical coherence tomography discloses shallow subretinal fluid with photoreceptor atrophy (to the left). The choroid appears compressed with a mass at the level of the sclera causing elevation. The arrows point to choroid–scleral junction.

Further systemic evaluation disclosed features of organoid nevus syndrome. Within the scalp alopecia, there were regions of yellow, thickened, hairless skin consistent with nevus sebaceous of Jadassohn. Magnetic resonance imaging revealed a large arachnoid cyst in the left temporal region, subdural hygroma in the left frontal region, and hypoplastic segments of the right anterior cerebral and left posterior cerebral arteries. Magnetic resonance imaging also revealed a subtle placoid mass on the back surface of the left eye, showing bright signal on T1-weighted imaging and low signal on T2-weighted imaging, appearing to reside in the sclera. On follow-up examination, the cutaneous lesion was partially excised at sites of thickening to reduce the risk for malignant transformation. At the 2-year follow-up, the child sustained one seizure but the intraocular tumor remained stable without progression.

Discussion

In 1997, Shields et al. published observations on 5 patients with organoid nevus syndrome.3 The findings included classic cutaneous nevus sebaceous (n = 4), seizures (n = 2), arachnoid cyst (n = 2), and the ophthalmic findings of eyelid coloboma (n = 1), iris coloboma (n = 1), blepharoptosis (n = 2), amblyopia (n = 2), epibulbar complex choristoma (n = 5), optic disc anomaly (n = 2), and amelanotic peripapillary choristoma (n = 5) with evidence of calcification (n = 4). One eye that was evaluated histopathologically following enucleation revealed the peripapillary choristoma to be intrascleral cartilage, within the inner one-third of the posterior scleral wall. They concluded that the most consistent fundus finding in the organoid nevus syndrome was the amelanotic peripapillary choristoma.3 They noted that this lesion has been previously misinterpreted as a choroidal osteoma or coloboma.

Later, Traboulsi et al. evaluated 4 patients with organoid nevus syndrome and found on histopathology of one case that the posterior peripapillary choristoma comprised intrascleral bone and episcleral bone and cartilage.4 They remarked that the posterior ocular segment findings of cartilage or bone is not uncommon in organoid nevus syndrome. They further observed that no fundus lesion showed growth.

In our case, the patient was referred for evaluation of retinoblastoma, based on the calcified fundus mass. The location of the mass deep to the retina, within the choroid or sclera and without retinal feeder vessels, were two points that immediately suggested that this tumor was not retinoblastoma. Ultrasonography confirmed the intralesional homogeneous calcification. Subsequent enhanced depth imaging optical coherence tomography depicted the elevated mass within the sclera, pushing the thin choroid inward, supporting previous histopathologic findings of intrascleral choristoma in 2 cases.3,4 At the 2-year follow-up, the mass remained stable.

A 3-year-old boy was discovered to have a posterior fundus mass with ultrasound features of calcification, suggesting retinoblastoma. However, further examination revealed an intrascleral choristoma, at the level of the sclera, and associated with organoid nevus syndrome. This tumor should be differentiated from retinoblastoma based on clinical features.

References

  1. Solomon LM, Esterly NB. Epidermal and other congenital organoid nevi. Curr Probl Pediatr. 1975;6:1–56.
  2. Alfonso I, Howard C, Lopez PF, Palomino JA, Gonzalez CE. Linear nevus sebaceous syndrome: a review. J Clin Neuroophthalmol. 1987;7:170–177.
  3. Shields JA, Shields CL, Eagle RC Jr, Arevalo JF, DePotter P. Ocular manifestations of the organoid nevus syndrome. Ophthalmology. 1997;104:549–557. doi:10.1016/S0161-6420(97)30276-0 [CrossRef]
  4. Traboulsi EI, Zin A, Massicotte SJ, Kosmorsky G, Kotagal P, Ellis FD. Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn). Ophthalmology. 1999;106:2126–2130. doi:10.1016/S0161-6420(99)90494-3 [CrossRef]
  5. Shields CL, Schoenberg E, Kocher K, Shukla SY, Kaliki S, Shields JA. Lesions simulating retinoblastoma (pseudoretinoblastoma) in 604 cases: results based on age at presentation. Ophthalmology. 2013;120:311–316. doi:10.1016/j.ophtha.2012.07.067 [CrossRef]

10.3928/01913913-20130107-02

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