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Simple epibulbar cartilaginous choristoma
Simple epibulbar cartilaginous choristoma Ahmed Alyahya, MD,a Hisham Alkhalidi, MD,b and Adel H. Alsuhaibani, MDa
A 15-year-old boy was referred for management of a medial, pedunculated, subconjunctival epibulbar mass of 5 months’ duration in the left eye. The lesion was removed with complication, and histopathology confirmed a cartilaginous choristoma. To our knowledge this is the first reported case of a simple epibulbar cartilagionous choristoma.
M
ost congenital tumors of the conjunctiva are choristomas, tumorous malformations composed of tissues that are not normally present at the involved site. They can be either simple or complex. A simple choristoma contains tissue derived from 1 germ layer; a complex choristoma contains tissue derived from 2 germ layers. Complex choristomas may overlap the simple type, which may contain a small amount of a second tissue.1 The choristomatous tissues that are found in the epibulbar conjunctiva include skin, bone, lacrimal gland, cartilage, and brain tissue.1 To the best of our knowledge, no cases of simple epibulbar cartilaginous choristoma have been previously reported.
Case Report An otherwise healthy 15-year-old boy was referred to King Abdulaziz University Hospital in Riyadh for management of a mass of 5 months’ duration in the left eye. There was no history of itching, tearing, discharge, eye trauma, infection, or inflammation and no previous surgeries. Ophthalmic evaluation revealed a visual acuity of 20/20 in the right eye and 20/20 in the left eye. No restriction of ocular motility was detected in either eye. The mass was subconjunctival, nontender, round in shape, pedunculated, and mobile in the medial epibulbar part of the left eye, not involving the caruncle (Figure 1A). The base was 7 mm in diameter and the height was 5 mm. No signs of inflammation were found. The rest of the findings of the ophthalmic examination was normal. A simple excisional biopsy of the mass with the covering conjunctiva was performed. The lesion had no attachment to the underlying sclera or medial rectus muscle. Histologically, the mass showed subconjunctival marked follicular lymphoid hyperplasia with an adjacent large fragment of cartilaginous tissue (Figure 2). Six months Author affiliations: Departments of aOphthalmology and bPathology, Collage of Medicine, King Saud University, Riyadh, Saudi Arabia Submitted September 18, 2010. Revision accepted November 29, 2010. Reprints requests: Adel H. Alsuhaibani, MD, Department of Ophthalmology, King Abdul-Aziz University Hospital, King Saud University, PO Box 245, Riyadh 11411, Kingdom of Saudi Arabia (email: [email protected]). J AAPOS 2011;15:109-110. Copyright Ó 2011 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 doi:10.1016/j.jaapos.2010.11.009
Journal of AAPOS
postoperatively, the epibulbar area appeared to have healed normally (Figure 1B).
Discussion Most congenital tumors of the conjunctiva are choristomas, tumorous malformations composed of tissues that are not normally present at the involved site. They can be either simple or complex. A simple choristoma contains tissue derived from 1 germ layer; a complex choristoma contains tissue derived from 2 germ layers. Complex chorisomas may overlap the simple type, which may contain a small amount of a second tissue.1 The choristomatous tissues that are found in the epibulbar conjunctiva include skin, bone, lacrimal gland, cartilage, and brain tissue.1 Most congenital choristomas occur as isolated lesions.1 The presence of choristomas has also been linked with several types of syndromes, including Goldenhar syndrome,2 amniotic band syndrome,3 and linear nevus sebaceous syndrome.4 Although choristomas have been detected in many areas of the eye and orbit, they typically appear in the epibulbar area.5 Epibulbar choristomas, which can affect the cornea, limbus, and subconjunctival space, vary in appearance, ranging from a small, flat lesion to a large mass that fills most of the epibulbar region.5 Their size also seems to correspond to their degree of symptom severity. Small lesions are often asymptomatic, whereas larger lesions might cause irritation, astigmatism, and inadequate eye closure.1 Choristomas can be managed by surgical excision if they are symptomatic or of concern to the patient and family. Otherwise, periodic observation may be justified.1 The embryogenesis of choristomas is presently unknown; however, several explanations have been proposed based on the type of choristoma. For example, dermoid choristomas may develop secondary to faulty eyelid fissure closure embryologically with secondary entrapment of skin and mesenchyme.1 The formation of a complex choristoma may result from the faulty migration of pluripotential cells during embryogenesis.6 The development of an osseous choristoma may be correlated with scleral ossicles seen in avian species and may represent abnormal activation of pluripotent mesenchymal cells.7 Although choristomas are characterized as congenital, they may not be clinically apparent until later years. For example, the mean patient age at the time of diagnosis of epibulbar osseous choristoma is 12 years,8 similar to that of our patient who was 15 years of age when he presented with a choristoma. Although there were no clinical features of eye inflammation, marked follicular lymphoid hyperplasia was noticed adjacent to the large fragment of cartilaginous tissue in our patient. This may be related to prolonged rubbing of the choristoma against the eyelids.
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Alyahya, Alkhalidi, and Alsuhaibani
Volume 15 Number 1 / February 2011
FIG 1. A, Clinical photograph showing a subconjunctival mass, round in shape, pedunculated, and mobile in the medial epibulbar part of the left eye. B, Six months postoperatively the epibulbar area appears to have healed normally.
FIG 2. A, Microscopic view of the excised lesion showing conjunctival epithelium (upper right) with underlying marked follicular lymphoid hyperplasia and cartilaginous tissue (arrow) (hematoxylin-eosin stain, original magnification 40). B, High-power view of the cartilaginous component of the lesion showing chondrocytes distributed within the chondroid matrix (hematoxylin-eosin stain, original magnification 200). C, The conjunctival epithelial surface overlies marked chronic inflammation with lymphoid follicle formation (hematoxylin-eosin stain, original magnification 100).
Previous investigators have documented the presence of cartilage in choristomas of the complex type, including dermolipoma,9 the organoid nevus syndrome,10 or as a second tissue element in some osseous choristomas. Our report highlights that mature cartilage may also present as a simple cartilaginous epibulbar choristoma.
Literature Search The authors conducted a PubMed search for Englishlanguage results covering the period 1977 to August 2010 for the term epibulbar choristoma. All search results were reviewed. References 1. Shields JA, Shields CL. Eyelid, conjunctival, and orbital tumors: An atlas and textbook. 2nd ed. Philadelphia, PA: WB Saunders; 2008. 250-62. 2. Mansour AM, Wang F, Henkind P, et al. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 1985;100:555-9.
3. Murata T, Hashimoto S, Ishibashi T, et al. A case of amniotic band syndrome with bilateral epibulbar choristoma. Br J Ophthalmol 1992;76:685-7. 4. Singal A, Dhaliwal U, Bhattacharya SN, et al. Complex ocular choristomas in linear nevus sebaceus syndrome: A report of two cases. J Dermatol 2001;28:259-64. 5. Mansour AM, Barber JC, Reinecke RD, et al. Ocular choristomas. Surv Ophthalmol 1989;33:339-58. 6. Casady DR, Carlson JA, Meyer DR. Unusual complex choristoma of the lateral canthus. Ophthal Plast Reconstr Surg 2005;21:161-3. 7. Gonnering RS, Fuerste FH, Lemke BN, et al. Epibulbar osseous choristomas with scleral involvement. Ophthal Plast Reconstr Surg 1988;4:63-6. 8. Gayre GS, Proia AD, Dutton JJ. Epibulbar osseous choristoma: Case report and review of the literature. Ophthalmic Surg Lasers 2002;33: 410-15. 9. Hered RW, Hiles DA. Epibulbar osseous choristoma and ectopic lacrimal gland underlying a dermolipoma. J Pediatr Ophthalmol Strabismus 1987;24:255-8. 10. Shields JA, Shields CL, Eagle RC Jr, et al. Ocular manifestations of the organoid nevus syndrome. Ophthalmology 1997;104: 549-57.
Journal of AAPOS
A 15-year-old boy was referred for management of a medial, pedunculated, subconjunctival epibulbar mass of 5 months’ duration in the left eye. The lesion was removed with complication, and histopathology confirmed a cartilaginous choristoma. To our knowledge this is the first reported case of a simple epibulbar cartilagionous choristoma.
M
ost congenital tumors of the conjunctiva are choristomas, tumorous malformations composed of tissues that are not normally present at the involved site. They can be either simple or complex. A simple choristoma contains tissue derived from 1 germ layer; a complex choristoma contains tissue derived from 2 germ layers. Complex choristomas may overlap the simple type, which may contain a small amount of a second tissue.1 The choristomatous tissues that are found in the epibulbar conjunctiva include skin, bone, lacrimal gland, cartilage, and brain tissue.1 To the best of our knowledge, no cases of simple epibulbar cartilaginous choristoma have been previously reported.
Case Report An otherwise healthy 15-year-old boy was referred to King Abdulaziz University Hospital in Riyadh for management of a mass of 5 months’ duration in the left eye. There was no history of itching, tearing, discharge, eye trauma, infection, or inflammation and no previous surgeries. Ophthalmic evaluation revealed a visual acuity of 20/20 in the right eye and 20/20 in the left eye. No restriction of ocular motility was detected in either eye. The mass was subconjunctival, nontender, round in shape, pedunculated, and mobile in the medial epibulbar part of the left eye, not involving the caruncle (Figure 1A). The base was 7 mm in diameter and the height was 5 mm. No signs of inflammation were found. The rest of the findings of the ophthalmic examination was normal. A simple excisional biopsy of the mass with the covering conjunctiva was performed. The lesion had no attachment to the underlying sclera or medial rectus muscle. Histologically, the mass showed subconjunctival marked follicular lymphoid hyperplasia with an adjacent large fragment of cartilaginous tissue (Figure 2). Six months Author affiliations: Departments of aOphthalmology and bPathology, Collage of Medicine, King Saud University, Riyadh, Saudi Arabia Submitted September 18, 2010. Revision accepted November 29, 2010. Reprints requests: Adel H. Alsuhaibani, MD, Department of Ophthalmology, King Abdul-Aziz University Hospital, King Saud University, PO Box 245, Riyadh 11411, Kingdom of Saudi Arabia (email: [email protected]). J AAPOS 2011;15:109-110. Copyright Ó 2011 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/$36.00 doi:10.1016/j.jaapos.2010.11.009
Journal of AAPOS
postoperatively, the epibulbar area appeared to have healed normally (Figure 1B).
Discussion Most congenital tumors of the conjunctiva are choristomas, tumorous malformations composed of tissues that are not normally present at the involved site. They can be either simple or complex. A simple choristoma contains tissue derived from 1 germ layer; a complex choristoma contains tissue derived from 2 germ layers. Complex chorisomas may overlap the simple type, which may contain a small amount of a second tissue.1 The choristomatous tissues that are found in the epibulbar conjunctiva include skin, bone, lacrimal gland, cartilage, and brain tissue.1 Most congenital choristomas occur as isolated lesions.1 The presence of choristomas has also been linked with several types of syndromes, including Goldenhar syndrome,2 amniotic band syndrome,3 and linear nevus sebaceous syndrome.4 Although choristomas have been detected in many areas of the eye and orbit, they typically appear in the epibulbar area.5 Epibulbar choristomas, which can affect the cornea, limbus, and subconjunctival space, vary in appearance, ranging from a small, flat lesion to a large mass that fills most of the epibulbar region.5 Their size also seems to correspond to their degree of symptom severity. Small lesions are often asymptomatic, whereas larger lesions might cause irritation, astigmatism, and inadequate eye closure.1 Choristomas can be managed by surgical excision if they are symptomatic or of concern to the patient and family. Otherwise, periodic observation may be justified.1 The embryogenesis of choristomas is presently unknown; however, several explanations have been proposed based on the type of choristoma. For example, dermoid choristomas may develop secondary to faulty eyelid fissure closure embryologically with secondary entrapment of skin and mesenchyme.1 The formation of a complex choristoma may result from the faulty migration of pluripotential cells during embryogenesis.6 The development of an osseous choristoma may be correlated with scleral ossicles seen in avian species and may represent abnormal activation of pluripotent mesenchymal cells.7 Although choristomas are characterized as congenital, they may not be clinically apparent until later years. For example, the mean patient age at the time of diagnosis of epibulbar osseous choristoma is 12 years,8 similar to that of our patient who was 15 years of age when he presented with a choristoma. Although there were no clinical features of eye inflammation, marked follicular lymphoid hyperplasia was noticed adjacent to the large fragment of cartilaginous tissue in our patient. This may be related to prolonged rubbing of the choristoma against the eyelids.
109
110
Alyahya, Alkhalidi, and Alsuhaibani
Volume 15 Number 1 / February 2011
FIG 1. A, Clinical photograph showing a subconjunctival mass, round in shape, pedunculated, and mobile in the medial epibulbar part of the left eye. B, Six months postoperatively the epibulbar area appears to have healed normally.
FIG 2. A, Microscopic view of the excised lesion showing conjunctival epithelium (upper right) with underlying marked follicular lymphoid hyperplasia and cartilaginous tissue (arrow) (hematoxylin-eosin stain, original magnification 40). B, High-power view of the cartilaginous component of the lesion showing chondrocytes distributed within the chondroid matrix (hematoxylin-eosin stain, original magnification 200). C, The conjunctival epithelial surface overlies marked chronic inflammation with lymphoid follicle formation (hematoxylin-eosin stain, original magnification 100).
Previous investigators have documented the presence of cartilage in choristomas of the complex type, including dermolipoma,9 the organoid nevus syndrome,10 or as a second tissue element in some osseous choristomas. Our report highlights that mature cartilage may also present as a simple cartilaginous epibulbar choristoma.
Literature Search The authors conducted a PubMed search for Englishlanguage results covering the period 1977 to August 2010 for the term epibulbar choristoma. All search results were reviewed. References 1. Shields JA, Shields CL. Eyelid, conjunctival, and orbital tumors: An atlas and textbook. 2nd ed. Philadelphia, PA: WB Saunders; 2008. 250-62. 2. Mansour AM, Wang F, Henkind P, et al. Ocular findings in the facioauriculovertebral sequence (Goldenhar-Gorlin syndrome). Am J Ophthalmol 1985;100:555-9.
3. Murata T, Hashimoto S, Ishibashi T, et al. A case of amniotic band syndrome with bilateral epibulbar choristoma. Br J Ophthalmol 1992;76:685-7. 4. Singal A, Dhaliwal U, Bhattacharya SN, et al. Complex ocular choristomas in linear nevus sebaceus syndrome: A report of two cases. J Dermatol 2001;28:259-64. 5. Mansour AM, Barber JC, Reinecke RD, et al. Ocular choristomas. Surv Ophthalmol 1989;33:339-58. 6. Casady DR, Carlson JA, Meyer DR. Unusual complex choristoma of the lateral canthus. Ophthal Plast Reconstr Surg 2005;21:161-3. 7. Gonnering RS, Fuerste FH, Lemke BN, et al. Epibulbar osseous choristomas with scleral involvement. Ophthal Plast Reconstr Surg 1988;4:63-6. 8. Gayre GS, Proia AD, Dutton JJ. Epibulbar osseous choristoma: Case report and review of the literature. Ophthalmic Surg Lasers 2002;33: 410-15. 9. Hered RW, Hiles DA. Epibulbar osseous choristoma and ectopic lacrimal gland underlying a dermolipoma. J Pediatr Ophthalmol Strabismus 1987;24:255-8. 10. Shields JA, Shields CL, Eagle RC Jr, et al. Ocular manifestations of the organoid nevus syndrome. Ophthalmology 1997;104: 549-57.
Journal of AAPOS