Ocular choristomas

SURVEY OF OPHTHALMOLOGY VOLUME 33 - NUMBER 5. MARCH-APRIL 1989

MAJOR REVIEW

Ocular Choristomas

AHMAD M. MANSOUR, M.D.,’ JOHN C. BARBER, M.D.,’ ROBERT D. REINECKE, M.D.,’ AND FREDERICK M. WANG, M.D.3

Departments of Ophthalmology, ‘University of Texas Medical Branch, Galveston, Texas, 2Wills Eye Hospital, Philadelphia, Pennsylvania, and Montefzore Medical Center/Albert Einstein College of

Medicine, Bronx, New York

Abstract. Choristomas are congenital lesions representing normal tissue(s) in an abnormal location. They are the most common epibulbar and orbital tumors in children. Epibulbar choristomas affect the cornea, limbus or subconjunctival space, and range in appearance from a small, flat lesion to a large mass filling most of the epibulbar region. Astigmatism is often present. Choristo- mas may be associated with coloboma, Goldenhar syndrome or epidermal nevus syndromes; those associated with the latter are often bilateral and extensive. Choristomas are occasionally familial. Surgery may be indicated to improve vision or cosmesis, or to impede growth. Although choristomas most commonly involve the epibulbar area, they can affect many areas of the eye and orbit, and often affect more than one area. (Surv Ophthalmol 33:339-358, 1989)

Kev words. astigmatism l choristoma l choroidal osteoma l dermoid l

ectkpic tissue l

0

epidermal nevus syndromes l

Goldenhar syndrome l lesion l lipodermoid

Choristomas are the most common type of epi-

bulbar and orbital tumors in the pediatric age

group. in.14”~~1”L’ Choristomas (Greek choristos = sepa-

rated, oma = tumor) represent congenital over- growth of normal tissues in an abnormal location.

The predominant locations of ocular choristomas

include the epibulbar region, the ocular adnexae,

and the choroid (Fig. 1). They can be divided into four main histopathologic groups: dermoid, lipo-

dermoid, single-tissue choristoma, and complex choristomas. Dermoids consist of collagenous con-

nective tissue covered by epidermoid epithelium. Lipodermoids contain adipose tissue along with a dermis-like connnective tissue. Single-tissue choris-

tomas consist of dermis-like tissue or ectopic tissues

of mesoectodermal origin (lacrimal and other glands, fat, nerve, brain, cartilage, bone, and teeth). Complex or composite choristomas contain tissues

of different origins. Other choristomatous growths include dermoid cysts, epiclermoid cysts, and teratomas. Dermoid cysts contain one or more dermal

adnexal structures (hair follicle, sebaceous gland) and are lined by a keratinizing epithelium. Epi- dermoid cvsrs lack dermal adnexal structures.

ep’dermo’d cyst l eyelid coloboma l

l osseous choristoma

Tissues derived from three germinal layers represent teratomas, while those derived from two layers are teratoid tumors. In this review, epibulbar

and non-epibulbar choristomas will be considered

separately.

I. Epibulbar Choristomas

A. HISTORICAL PERSPECTIVE

According to Picque’?’ and Haye et al,‘“:’ Mau- chard and Samuels separately described epibulbar tumors with eyelashes in 1742. In 1853, RybaZ4” reviewed 24 published cases of epibulbar choristo-

mas and used the term “dermoid” to group these similar tumors. PicqueZT7 presented a literature re-

view of 94 cases of epibulbar dermoids in 1886. In 1937, Ida Mann’x’.‘x” established a three-grade clas-

sification of cornea1 choristomas that is still in use (Fig. 2). In 1952, Goldenhar”‘” established the association of epibulbar dermoids with auricular, facial, and vertebral anomalies. In 1972, Baum and Fein- goldI characterized further the ocular findings in Goldenhar syndrome. The present review clarifies the association of epibulbar choristomas with Gol-

339

340 Surv Ophthalmol 33 (5) March-April 1989 MANSOUR ET AL

Fig. I. Predominant locations of ocular choristomas: Epibulbar region (cornea, limbus, subconjunctival space); eyelid (cartilaginous choristoma; phakomatous choristoma in lower lid); orbit (dermoid cyst, teratoma); iris; retina (ectopic ciliary body); choroid (osseous); optic nerve and tract. C = cornea; L = limbal; SC = subconjunctival; EL = eyelid, ch = choristoma; U = uvea; Ch = choroid; ON = optic nerve.

denhar syndrome, and further establishes the association of epibulbar choristomas with linear skin nevi.

B. INCIDENCE

The incidence of epibulbar choristomas is between 1/1O,OOO123 and 3/10,000.‘04 Ash found 7.5 cases of choristomas (7.5%) out of 1,016 epibulbar lesions studied at the Armed Forces Institute of Pa- thology.” By age distribution, Ash found choristomas to constitute 36% of epibulbar lesions in the first decade of life, 23% in the second decade, 7.2% in the third decade, and 0.9% in the fourth decade and beyond.6 At the Eye Pathology Laboratory of the Wilmer Institute, choristomas constituted 33% of epibulbar lesions in subjects below age 16 years,7g and 2.2% in subjects 16 years of age or older.“3

C. CLINICAL FEATURES

Epibulbar choristomas are solid tumors with a smooth or rough surface, and often with fine short or long hairs. The consistency may be hard, rub- bery, or soft, and the color may be whitish, yellowish, or pinkish. The size varies from a flat lesion of few millimeters to a large mass filling most of the epibulbar region. There may be more than one lesion in the same eye (Fig. 3),253~2g’~*gQ*326 and lesions may be unilateral or bilatera1.76*2g2 They cover commonly the cornea, 42~74~112~118,236.272 the limbus, or the

subconjunctival space. There is a wide clinical spectrum for presentation of epibulbar choristomas, in- cluding epithelioma,‘j2 hemangioma,156 ‘foreign body granuloma, pterygium,‘j2 sclerocornea,24 anterior cornea1 dystrophy,‘25J85 staphyloma,24 and xanthoma. Rare presentations include multilobu- Iated lesions,273 annular perilimbal lesions,‘g4 corne- al cysts (Fig. 3),201 supernumerary caruncles,‘87v1g5 a

cutaneous horn overlying a conjunctival dermoid, and swelling of the caruncle by an epidermoid cyst (Fig. 4).

Of 82 epibulbar choristomas reported by Ash,‘j 43 (52%) were located in the bulbar conjunctiva, 24 (29%) in the limbus, 5 (6%) in the cornea, 3 (4%) each in the caruncle and the canthi, and 2 (2.5%) each in the conjunctival fornix and the palpebral conjunctiva. In a series of 100 choristomas,‘7g 94% of the lesions were temporal while 6% were nasal, and 83% were inferior while 17% were superior. Out of 25 epibulbar choristomas in Goldenhar syndrome,‘s6 14% were nasal, 86% temporal, 16% superior, and 84% inferior.

Associated ocular findings in isolated epibulbar choristomas include scleral and cornea1 staphylomas 23*24,43 aniridia,74 congenital aphakia,‘ls cata- ract:lg5 miliary aneurysms of the retina,‘76 and microphthalmia.“8~234~2*o~2g6 Epibulbar choristomas may be associated with choristomas of the eyelid ‘32*‘85 osseous choristomas of the choroid,‘67.‘85 deimoid cysts of the orbit,2g5 systemic choristomas

I II III

Fig. 2. Grading of severity of epibuibar choristomas (modified from Mann’s classification). Grade 1: Superfi- cial cornea1 involvement. Grade II; Deep cornea1 involvement. Grade III: Involvement of the cornea and part of the anterior segment with associated ocular anomalies (i.e., microphthalmia).

OCULAR CHORISTOMAS

involving the face and scalp,74 and commonly with

cartilage choristomas in the preauricular region

(preauricular tags).

Astigmatism is common in eyes with epibulbar choristomas. In one series,18” the average degree of

astigmatism was 2.1 diopters for limbal choristomas

and 1.0 diopter for conjunctival choristomas. Cut- tone et al”’ have induced astigmatism by suturing

341

scleral sponges to the limbus of rabbits, mimicking

the effect of limbal choristomas.

D. ASSOCIATION WITH GOLDENHAR

SYNDROME

Van Duyse in 1882 described the association between facial anomalies and ocular dermoids in

three of his cases and one case from the literature.‘“”

Fig. ?. Clinical appearance of epibulbar choristomas. Top kft: Multiple choristomas (limbal and subconjunctival). Top

right: Choristoma presenting as a limbal cyst. Middle right and bottom left: Subconjunctival choristoma filling the lowet- firnix. Bottom right: Limbal choristoma resembling a pterygium. Choristoma with lipid cornea1 ring and multiplr hairs protruding from the central portion of the mass.


Fig. 4. Epidermoid cyst of the caruncle. Z@ Swelling of the caruncle. Right: The cyst has keratinous content with no

epidermal appendages. [X 20, H&E (Courtesy of Louis A. Karp, M.D., Philadelphia).]

In 1886 Picques7 collected 10 cases of this association from the literature in a review thesis of 94 dermoid cases. In 1952, Goldenhar reviewed 30 cases from the literature and added a personal case of “the syndrome epibulbar dermoid-auricular appendages-auricular fistulae and its relations with mandibulofacial dysostosis.“‘n4 Goldenhar described the triad of preauricular fistulae, preauricular appendages, and epibulbar dermoids or lipodermoids.‘04 This description set apart Goldenhar syndrome from mandibulofacial dysostosis or Treacher-Collins syndrome. In 1963, Goldenhar syndrome was expanded to include vertebral anomalies.‘07~‘0” Hemifacial microsomia was initially considered to be a separate entity from Goldenhar syndrome. Patients with hemifacial microsomia have unilateral hypoplasia of the face and ipsilateral macrostomia. Because of many overlapping features between Goldenhar syndrome and hemifacial microsomia, Gorlin and associates’“7l’08 did not con-

sider the two entities distinct but instead a contin- uum. Goldenhar syndrome has been further expanded to include hemifacial microsomia (called by some Goldenhar-Gorlin syndrome). Goldenhar syndrome includes in its broad definition hemifacial asymmetry, microtia, (Fig. 5) preauricular or skin appendages, and various vertebral anomalies (fusion, scoliosis, hemivertebrae, spina bifida).65,?55 Accompanying features of the syndrome include cleft lip, digital anomalies, and various central nervous system, urogenital and cardiovascular anomalies.n’~“6~‘xs~220 In 1973, Baum and Feingold17 identified the ocular findings in Goldenhar syndrome. Mansour et alIS reported clinical findings in 57 patients with Goldenhar syndrome. Ocular findings included epibulbar choristomas in 18 (32%) patients, lacrimal anomalies in 6 (1 l%), ocular motility disturbance in 11 (19%), eyelid coloboma in 6 (1 l%), and blepharoptosis and small palpebral fis- sure in 7 (12%). Systemic manifestations were skin

Fig. 5. Goldenhar syndrome. Lpft: Preauricular tags. Middle: Microtia. Right: Eyelid coloboma.

OCULAR CHORISTOMAS 343

tags in Z-15 (61%) patients, microtia in 39 (68%),

hemifdciaj asymmetry in 45 (79%), and vertebral

anomaly in 17 (30%). The choristomas in Goldenhar syndrome are

limbal or subconjunctival, and few cases with corne-

al choristoma have been described.“2,‘““,S”fi A com-

prehensive listing of ocular findings reported in

Goldenhar syndrome are listed in Table 1.

E. ASSOCIATION WITH THE EPIDERMAL

NEWS SYNDROME

Bogel in 1886 reported “the association of a subconjunctival lipoma with ichthyosis hystrix.““’ Since

then a number of cases of choristomas associated

with the epidermal nevus syndrome have been reported, and these are summarized in Table 2. The

syndrome is manifested by skeletal, neurologic, vas-

Fig. 6. Linear epidermal nevus syndrome.“” Top left: The choristoma has involved the whole epibulbar region. 7bp right: Deep lamellar dissection revealed the presence of cornea1 stroma. An area of ectasia noted here as a bulge was found to correspond to lacrimal gland tissue. The cornea ruptured at the area of ectasia, and penetrating keratoplasty was performed. Middle left: Histopathology of the epibulbar tissue revealed the presence of lacrimal gland tissue, cartilage and adipose tissue. Middle right: CT scan of the left orbit revealed the presence of a posterior pole osseous choristoma. Bottom; Radiographic examination of the upper extremities showed multiple cystic epi- physral lesions consistent with fibromas.


TABLE 1 cular and dermatologic disorders.267-2”g

Ocular Findings in Goldenhur Syndrome

Epibulbar choristoma’2g~23g~304~s05 Eyelid & eyebrow colobomas**’ Lacrimal drainage anomalies’7~‘86*3” Duane’s syn&-ome2'9~226.228,294

Third nerve ophthalmoplegias* Microphthalmos50Jgz Neuroparalytic keratitis2”3~28s Orbital dermolipoma20s Facial neuropathy3 Partial cryptophthalmos24’ Eyelid choristoma214 Iris heterochromiag’ Aniridia227 Uveal coloboma230 Cataractlg5 Optic nerve hypoplasia53 Pseudopapilledema’5s Peripapillary hypopigmentation’86 Retinal vascular tortuosity’g2

Skeletal disorders include kyphoscoliosis, lor- dosis, hemihypertrophy and pathological frac- tures from cystic lesions of the long bones (Fig.

6). ‘70*‘72~284 Neurologic complications include con-

vulsions, mental retardation, and hemiparesis '6~26~47~69~77~36~103.148.300~34~ Vascular anomalies in_

elude congenital cardiac malformations,8’ arteriovenous malformations of the brain, and hemangioma of the scapula.

The skin lesions are congenital, epidermal in character, linear, and usually do not cross the mid- line (Fig. 7). They have a predilection for the head and face. The lesions are of two types. Linear epider-

ma1 nevi (nevus unius lateris) are characterized by brown linear unilateral pap&es with increased basal cell hyperpigmentation and various degrees of hyperkeratosis. When the lesions have many sebaceous glands, they are called sebacaeous nevi.

TABLE 2

Characteristics of 69 Epibulbar Choristomas Associated With Epidermal News Syndrome

Type of Choristoma

Lipo- Characteristic Mixed dermoid Dermoid Other Total

Type of nevus Linear epidermal 9 4 0 0 13 Linear sebaceous 19 10 18 2 49 Other 2 2 3 0 7

Total 30 16 21 2 69 Sex

Male 16 11 1 36 Female 13

r: 9 1 30

Not reported 1 1 1 0 3 Total 30 16 21 2 69 Affected eye

Right eye 4 1 6 0 11 Left 6 eye 7 11 0 24 Both 20 eyes 7 4 1 32 Not reported 0 1 0 1 2

Total 30 16 21 2 69 Nevus site

Head/neck 20 12 14 0 46 Extremities 0 0 1 0 Head/trunk 4 0 3 0 : Head/extremities 1 0 0 1 2 Trunk/extremities 0 0 1 0 1 “Half’ of body 3 0 1 0 4 “All” of body 1 2 0 0 3 Not reported 1 2 1 1 5

Total 30 16 21 2 69

Ten dermoid, one simplex/mixed, and one lipodermoid choristoma were not confirmed histopathologically. “Other” includes a “pannus” and a “nevus” unconfirmed histopathologically.

References Mixed: 11,20,24,28,29,32,45,71,106, 117, 121,130,161, 166, 167, 169, 171, 227, 230, 257, 262, 309

185,200,205,207,210,

Lipodermoid: 51, 94, 105, 162, 190, 204, 209, 217, 248, 250, 254, 269, 275, 297 Dermoid: 14, 22,48,69,72, 130, 133, 143, 148, 152, 159a, 169, 172, 180, 193, 227,252, 278,287, 325 Other: 26, 240


Fig. 7. Nevus sebaceus involving the forehead.

These are yellowish verrucose cutaneous lesions;

sebaceous gland hyperplasia can be seen histopathologically.“?5 Unlike the linear epidermal nevus, the

sebaceus nevus is known to undergo malignant de-

generation into basal cell epithelioma and other skin tumors early in life.27~‘“x~‘7s~‘x~~‘g7 Systemic

malignancies in association with sebaceus nevi

include Wilms’ tumor of the kidney, adenocarci-

noma of the salivary glands, and rhabdomyosar- cOma “‘.70,X”.“l:i.‘.i’,1~~,~~!~

The choristomas found in epidermal nevus syn-

drome are most commonly the mixed (complex) type. These are most often bilateral and exten-

sive.‘x”,‘6” While bilaterality is less common in lipodermoid and dermoid lesions than in the mixed

type, it is more common in the choristomas associated with epidermal nevus syndrome than in choris-

tomas not associated with this syndrome.

F. INHERITANCE

Transmission of choristomas through three gen-

erations was reported by Saebos”’ and Golden- bar.“‘” .4 literature review revealed six families with

choristomas in the context of Goldenhar syndrome, and five families with isolated choristomas (Table 4). The pattern of inheritance in isolated choristo-

mas was autosomal dominant in three families Il)-I.?:ll .L’~5 sex-linked recessive in two, ‘25,“N.j and

probably autosomal recessive transmission in one.‘ls” The inheritance pattern in choristomas

with Goldenhar syndrome was multifactor- ial !)9,14l liJ.17i.IX~.“9!1

Eleven twin studies in epibulbar choristomas and/or Goldenhar-Gorlin syndrome were discordant for either t’.~.~~l..~~i,ll~~.lL’~.~Nti.~~~,L’5~ Frances&etti””

reported female bivitelline twins who had Golden-

har-Gorlin syndrome without choristomas. Ter-

haaP’ described the only monozygotic twins with

Goldenhar syndrome and epibulbar choristomas.

Chromosomal studies were normal in several series of patients with Goldenhar syndrome.‘:“.‘X”~‘“”

One patient had the combination of Goldenhar syndrome and the cri-du-chat syndrome (deletion of

the short arm of one of the chromosomes in the 4-5 group).‘“’ Another patient with Goldenhar syndrome and normal karyotype had a relative with the cri-du-chat syndrome.‘K”

Two uncommon forms of epibulbar choristomas

were noted to be familial: the annular limbal form

described by Mattos et al,‘“” and the cornea1 dystro-

phy form described by Henkind et al”” and Topi-

low et al.‘x” The latter form presented at birth as

bilateral superficial crocodile shagreen opacity of the cornea. Examination of family members dis- closed a more characteristic cornea1 choristoma

(Fig. 8).

TABLE 3

Ocular Findings in the Epidervnal NQWV Syndromr

Epibulbar choristomas Epidermal nevus of e Eyelid ,-horistomal”.I I 7

elid 152. I7:i. I i,i.L’4X.?.~L’.WI

.IX.i.L’62

Nystagmus’“” Ophthalmoplegia”” Coloboma of eyelid, optic nerve and choroid7’,““’ Osseous choristoma of the choroid”” Cortical blindness7’.‘2’,‘“x Microphthalmia’“’ Macrophthalmia”‘” Catdract’75

TABLE 4

Literature Rez&w of Favnilic~i Epihulhar Chorzstovna.\

Familial Goldenhar With Familial Lkvnoids Saraux”“’ Krause”” KirkeI”i

Terharr””

Baum”

Rollnick”“” isolated Favnilinl Choristomas

Saebo”4”

Two sisters Brother and sister Two sisters Male and female mono-

zygotic twins Paternal grandmother

and grandchild Three siblings

(irandmother, mother, and daughter

Father, son, and daughte’

Henkind 8c Topilow’Y5.“n” ‘I‘wo brothers and thei’ nephew

Pouliquen’:” Mother, fi~ur sons. grandson and grandaughte’

Mattes”” Mother, three daughters, and one grandson

Surv Ophthalmol 33 (5) March-April 1989 MANSOUR ET AL

Fig. 8. Familial cornea1 dermoid. Left: Right eye. Right: Left eye. This 1 l-year-old boy had bilateral cornea1 dermoid at birth and was reported as case 2 by Henkind et al. lz5 We present the cornea1 changes at the age of 11 years. The left eye remained unchanged with fine superficial vascular plaque. The right eye showed increased opacification and vascularization of the central leukoma.

G. HISTOPATHOLOGY

Tissues found in choristomas include epidermal appendages, adipose and lacrimal gland tissue, cartilage, bone, teeth, and brain tissue.3”*‘3g.“‘g Lymphoid nodules have also been found.20.235 Ma- lignant degeneration is quite rare in epibulbar choristomas. There is one report of a fibroma origi- nating in a dermoid, but the authors did not docu- ment the choristomatous nature of the initial tumor.28g Haye et alIz mentioned a case described by Duclos of a rapidly growing epithelioma that arose from a limbal dermoid detected at birth. Choristo- mas are known to grow especially around puberty and to become hirsute at that time.‘23.2?7~so’

Dermoid cysts of the epibulbar region are much less common than solid (non-cystic) choristomas. One case of epidermoid cyst of the caruncle was described in a 53-year-old male patient (Karp LA: AOA-AFIP meeting, 1985). Teratomas and teratoid tumors of the epibulbar region are rare.‘13 A firm solid tumor of retinal and lenticular anlage was described by de Vincentiis in 1952 in the medial canthus of an 1 l-year-old subject.6R

where color was described it was whitish (9 cases), greyish (6 cases), yellowish (4 cases), pinkish (3 cases), or brownish (3 cases). The location was conjunctival (18 cases), limbal (20 cases), and cornea1 (7 cases); several lesions affected more than one area. In two bilateral cases, the initial diagnoses were recurrent nasal pterygia and interstitial keratitis. The pathological typing was dermoid cyst (1 case), solid dermoid (19 cases), lipodermoid (13 cases), and mixed choristoma (13 cases, with lacrimal gland present in 9, adipose in 6, smooth muscle in 5, striated muscle in 1, cartilage in 3, and bone in 1 case). One patient was a member of a family with inherited cornea1 choristomas, two patients had Golden- har syndrome, and two had linear epidermal nevi. Growth was documented in two lesions; one grew slowly over several months, and one grew from a small superior limbal lesion at birth to cover the whole cornea at age nine years. Lamellar keratoplasty was performed in two eyes, and penetrating keratoplasty in one eye. Five lesions recurred following surgical excision.

H. PATHOGENESIS

We reviewed the cases of epibulbar choristomas Epibulbar choristomas have been thought in the examined in the Eye Pathology Laboratory at Wills past to derive from sequestration of dermal tissue in Eye Hospital between 1963 and February 1982, underlying layers. 57.75 In 1895, Van Duyse pro- and at Montefiore Medical Center between 1971 posed that they were amniotic adhesions.2g0 It was and December 1984. Of 41 patients, 21 were fe- also suggested that limbal dermoids represent the males, 20 were males. Average age at which the missing portion of the lid fold abnormally adherent lesions were excised was 13 years (range O-75 to the globe in cases of coloboma of the eyelid.‘@ years). The choristomas involved the right eye in 18 Gallengag3 proposed that dermoids result from ab- patients, the left eye in 17 patients, both sides in 3 errant development of the plica semilunaris. Chor- patients, and were multiple in 2 patients (a total of istomas are presently thought to arise from an early 46 lesions). The average size of the lesions histo- developmental anomaly resulting in metaplastic pathologically was 7.4 x 4.2 x 1.7 mm. In 25 cases transformation of the mesoblast between the rim of

OCULAR CHORISTOMAS

Fig. 9. Recurrence of epibulbar choristoma. Left: Appearance of the choristoma one month after debulking the mass that was covering the superotemporal limbus. Right: Twenty six years later the choristoma has completely covered the cornea.

the optic nerve and surface ectoderm.ix2 A grading scheme proposed by MannIx’ takes

into consideration the depth of the cornea1 involvement and the accompanying intraocular malformations. Superficial cornea1 lesions (Grade I) are seen with small limbal dermoids or in familial cases’““~2”‘~SH” and mimic cornea1 dystrophies. Deep- er cornea1 involvement (Grade II) may leave an intact Descemet’s membrane and an endothelium and simulate staphyloma and sclerocornea.“4.‘X5~““o Involvement of the anterior segment of the eye by the choristomatous growth and the accompanying ocular malformations (microphthalmos) delineate Grade III: i.&. I X2.‘wJ.“L)6.2AX

I. SURGICAL INTEVENTION

The indications for surgery are delineated in Table 5. Amblyopia therapy and optical correction of any accompanying astigmatism are important adjuncts to the surgical treatment. The surgical mo- dality for cornea1 choristomas is dependent on the grade of ocular involvement. Severe and unilateral cases in Grade III, where the globe is microph- thalmic, are usually enucleated or eviscerat- ed. I XL’. I x:I,“:I-I.“xo In cases of accompanying anterior staphyloma,‘:’ keratoprosthesis has been tried.“4 In Grade I I, where most of the cornea is replaced by the lesion, penetrating keratoplasty is per- f~~rmed~L’-I.lXi.l!lX.‘~Yl~.:I”:~ In Grade I, where the superficial cornea is involved, both lamellar and penetrating ket-atoplasties have been attempted.‘“~,9”‘,‘““,‘X”

The graft commonly opacifies and there is a need fi)r a second cornea1 button, whether a lamellar or a penetrating keratoplasty was initially per- fol-mecl.‘xi~2”“~‘~~‘~ Most of these lesions occur in children; thus, keratoplasties have a guarded visual

prognosis because of accompanying amblyopia and the high incidence of vascularization of the graft.“”

Small asymptomatic limbal dermoids should not be removed, as the postoperative scar (leukoma) may be more conspicuous than the original lesion.‘“’ A pseudopterygium may follow attempts at excising limbal dermoids,fi’,‘77 and these cases may benefit from lamellar keratoplasty. Limbal lesions that are accompanied by astigmatism or wide lipid ring, or that demonstrate growth, may be candi- dates for surgical intervention, especially if the central vision or the pupillary axis are involved (Fig. 9). Care should be exercised in shelving limbal choristomas in order to avoid entering the globe.““’ Cal- houn”’ described scleral ectasia underlying a limbal dermoid that was complicated by presentation of a

TABLE 5

Indications for Surgical Intervention

Cornea1 choristomas’4.‘X5-J’o High astigmatism in limbal lesions to prevent amblyo-

pia’s” Lipid ring encroaching on pupillary area Growth and encroachment over the pupillary area in

limbal IesionP’ Cosmesis Spontaneous perforation in staphylomatous areas under-

lying a choristoma’” Doubtful diagnosis, especially in growing lesions or in

lesions detected in adults Irritation from hair protruding from the lesion Inadequate lid closure Large tumOrSlH:i.“4B.‘H”

Recurrent conjunctivitis”’ Recurrence of the tumo? Pseudopterygium appearance following excision”’


vitreous bead during a superficial dissection. Spon- taneous collapse of the anterior chamber in a child with limbal choristomas (Spencer WM: Verhoeff Society Meeting, 1983) attests to the special care needed in excising limbal choristomas. Subcon- junctival lipodermoid choristomas are removed if there is a cosmetic blemish. The lesion may extend deep into the orbit, and no attempt should be made to remove the entire lesion. Such attempts in the past have led to distortion of the eyelids and diplo- pia from excessive surgical manipulation.z8’

II. Choristomas Outside the Epibulbar Region

A. EPISCLERAL OSSEOUS CHORISTOMAS

Episcleral osseous choristomas are detected in early infancyn5 or childhood and tend to increase in size in early childhood5’ or around puberty.“” They appear as whitish pea-sized raised lesions, 5 to 10 mm from the limbus. They have a predilection for the superotemporal quadrant (30 out of 44 cases described in the literature) 12,19,34,73,120.126.1~3,1~.233~237.259.63,30~~322 or the tem_

poral corner ( 10 out of 44 cases).34~~g*x3~85~‘zo~~37~265 They simulate a dermoid,‘gs34 a dermolipoma,‘g a granuloma,34 a pyogenic granuloma,*?’ a sea??’ or ivory teeth.221 They are composed of osseous tissue arranged in Haversian systems, and are enclosed by periosteum. The finding of a tooth-shaped opacity by skull X-rays helps in the preoperative diagnosis.lg The majority are freely movable and easy to dissect. Adherence of the tumor to the sclera34*2”i9 and to the lateral rectus muscle sheathx5,221 is common. Osseous choristomas seem to arise from or lie within Tenon’s tissue, either over the sclera in the superotemporal quadrant or in a reflection of the Tenon’s capsule that forms the sheath of the lateral rectus muscle in the temporal corner.22’

Fig. IO. Dermoid cyst of the orbit located in the superotemporal quadrant.

denhar syndrome ‘7x214 or in the context of the linear epidermal nevus syndrome. 14,117,185,200,207,262,267 These

lesions have been mistaken for chalazia.“4 Ectopic lacrimal gland has been described in the upper eyelid.154

A rare choristomatous growth involving the lower eyelids is the phakomatous choristoma. The characteristic features of such tumors include: detection in early infancy, tendency for growth, involvement of the nasal part of the lower eyelid, and clinical resemblance to dermoid cysts. Of eight such lesions reported,g~“7~“‘~‘g”~‘s6~32s six were in males and two were in females. All were unilateral. By histopathology, the capsule-like bands and the enclosed material resemble respectively the lens capsule and the lens substance of cataractous lenses.328 The close resemblance of the tumor to lens structures has been further established by electron microscopic studies.‘g”.Z85 The tumor is thought to be of lenticular anlage derivation.3zs

B. SCLERAL CHORISTOMAS D. ORBITAL CHORISTOMAS

The sclera can be replaced by ectopic lacrimal gland tissue4g,‘37 or by chondroosteomatous choristomatous growth,54,67,*'P,P'3,223*227,*48 usually in con_

tinuity with a choristoma or a coloboma of adjacent structures. Episcleral bone continuous with a peripapillary choroidal coloboma was found in a case of D-trisomy with translocation.24s Intrascleral smooth muscle fibers occasionally have been noted in colobomas of the optic disc. 8g Ectopic retina in the sclera was found in a subject with triploidy.g?

C. EYELID CHORISTOMAS

Cartilage and complex choristomas of the eyelids’“Z,?‘6 are single or multiple, and may occur in eyes having epibulbar choristomas as part of Gol-

Dermoid cysts represent the commonest choristomatous growth of the orbit. In a review of four large series totalling 358 cases of orbital tumors in children,78~‘4z~3?? dermoid cysts accounted for 37% of the cases. Some cysts enlarge to reach the size of the eyeball, giving them the designation of “giant dermoid cysts.“1’4 Dermoid cysts commonly arise superotemporally (Fig. 10) near the zygomatico- frontal suture line. They tend to be located superfi- cially in asymptomatic children,25” while in adults they are deeply located causing proptosis.“+“jx Haye et al’?? listed the location of the dermoid cysts in 125 patients as follows: superotemporal, 6 1 cases (49%); superonasal, 29 cases (23%); inferonasal, 14 cases (11%); inferotemporal, 7 cases (6%); orbital

OCULAR CHORISTOMAS

roof, 10 cases (8%); and deep in the orbit, 4 cases (3%). Yroptosis with mastication was encountered in one case of dermoid cyst communicating with the temporal fossa through a bony defect in the lateral orbital wall.“” Spontaneous rupture of the dermoid cyst with surrounding granulomatous inflammation was present in 25% of the cases in one series.“’ Dermoid cysts are thought to result from an embryonic displacement of the epidermis at the site of developmental fusion of bone. One case of dermoid cyst had accompanying epibulbar choristoma.2gj

Seven cases of “dermoid” cysts have been reported to be of conjunctival origin,‘47.P6” representing 5% of one series of orbital dermoid cysts.14’ Con- junctival adnexal cysts of the orbits tend to be located superonasally and represent sequestrations of conjunctival epithelium.

Dermolipomas account for 0.6% of orbital tumors in children.“” The subconjunctival lipodermoid may be the forward lip of a large lipodermoid in the orbit.“x1 Extension of epibulbar dermolipomas deeply into the orbit is an indication for limited surgery to prevent such complications as motility restriction and obliteration of conjunctival fornicesZx’

Orbital ~~~~~~~a~4.1".l~.4~.':'".'"0.149,174 have been

considered choristomatous in nature because they arise from totipotential cells rather than from pluri- potential cells. 149~pJ5 They account for 1% of orbital tumors in children. 14:! There is a female-to-male ra- tio of 2: 1.“’ Most teratomas are cytologically benign, yet they frequently grow rapidly and cause severe proptosis and extensive destruction of the bony orbit. Most teratomas have three germinal layers; those with two germinal layers are less common and are called “teratoid” tumors. Ectodermal (squa-

349

TABLE 6

Reports of Choristomas Containing Ectopic Tissues From Bmiu, L.acrimal Gland, and Cilia? Body

Ectopic Brain Tissue ~~~i~i.~~,Yl”.2~Y.‘“S.:“l) LimbusX”_ I SY

Ectopir Lacrimal Gland Epibulbar region 64.88.lOl.lOti.lI5.l:~,.IUO.L'III

~~~~~5.l~.56.41,110.14.5.1A1."0?.?11."4~3.~1?7

Evelid’FJ4 Ektraocular muscle”’ Sc]era4”J3’

9~.40.49.~~.ti:~.10(1.1 l(l.I:~i.L,~lli Iris and ciliary body.’ Ectopic Cilia9 Body2”

mous epithelium, adnexal structures) and meso- dermal (muscle, bone, cartilage, fat) derivatives are the commonest layers found, and endodermal derivatives (gastrointestinal and respiratory tissue) are the least common.‘*’ Transillumination of part of the lesion is secondary to cystic formation,‘“” and ossification or calcification may be evident on roent- genogram.’ Rapid proptosis is partly secondary to increase in the size of the cysts. Teratomas are considered malignant when the tissue constituents are embryonal or immature. Six cases of malignant teratomas have been reported, and one patient died from metastasis.Y5,174,546.zc’j Twelve cases have been reported of successful preservation of the proptotic eye; 1y~4x.‘4”.‘44.‘74 exenteration was carried out in the remaining cases because of suspicion of malignant tumor or impending cornea1 perforation from ex- posure keratitis.‘” Optic anlages have been noted in one case of orbital teratomas and in several extraocular teratomas.“” A tumor weighing 95 grams was

Fig. 11. Ectopic brain tissue in the orbit. [X 16, Hematoxylin and eosin.

(Co1 urtesy of‘ Yue-Kong Au, MD, Was ihington, DC).]


removed in one case.14’ Teratomas are thought to

arise from loci of totipotential embryonic tissue

which have escaped the influence of primary

organizers.‘“5 Ectopic lacrimal gland tissues have been de-

scribed in the orbit in 17 cases (Table 6). Three

cases of ectopic lacrimal glands underwent malig-

nant transformation, one into adenocarcinoma”O

and two into pleomorphic adenoma.36*21’ Propto- sis35*3p7 from ectopic lacrimal glands is related to

inflammation of the gland tissue’9’ or to formation of ectopic gland cysts.4’J43

and thickened superior oblique muscle. Histopath-

ologically, connective tissue and hyaline cartilage

had replaced the muscle fibers. The choristoma had

occurred in the area of the trochlea and its presence could be attributed to an abnormal development of

the trochlea proper. A second case of fibrofatty in-

volvement of extraocular muscles in the context of the linear sebaceous nevus syndrome was de-

scribed.“j’ In a third case, ectopic lacrimal gland

involved the lateral rectus insertion.“’

F. OPTIC NERVE HEAD CHORISTOMA

Ectopic brain tissue has been described in six

cases (Fig. 11). One patient had Turner syn-

drome.3’0 Exophthalmos or eyelid swelling is usually present at birth. ’ The orbital mass is circum-

scribed and has no direct connection with the central nervous system, in contrast to a meningoen-

cephalocele. 2’5 An intact dura mater has been noted

to separate the orbital lesion from the brain in the

region of a bony defect. 2’5 Striated muscle fibers connected to the ectopic nervous tissue were noted

in two cases.2’5,3’o Increasing proptosis in some

cases is due to intrinsic secretion of cerebrospinal fluid into the cystic orbital lesion.3’0

Heterotopic adipose tissue and smooth muscle have been detected in 29 optic nerve heads (Fig. 12).89.‘25,303,3’3 J-h e anomaly was accompanied by

distal enlargement of the optic nerve in the area of

the colobomatous malformation. The involved eyes were enucleated because of pain and blindness

from glaucoma or, less commonly, because of a sus-

picion of an ocular tumor (such as glioma) in a

seeing eye. The presence of smooth muscle in the optic nerve or peripapillary structures (choroid or

sclera) may partly account for the contractile behav- ior of some peripapillary staphylomas.‘0g~‘60~‘7g~3’4

One case of ectopic lymph node in the orbit has been described.3’s

Ectopic retina in the optic nerve head was noted in a subject with triploidy.g2

E. CHORISTOMAS OF THE EXTRAOCULAR MUSCLES

G. CHORISTOMA OF OPTIC NERVE AND CHIASM

Choristomas of the extraocular muscles are rare. In one patient, a choristomatous growth of the su-

perior oblique muscle presented as a trochlear pal-

sy and a palpable upper nasal orbital mass.46 At exploration, the palpable mass proved to be a hard

Choristomas involving the intracranial optic

nerve and the optic chiasm were mistaken for a glioma and a meningioma in two subjects3”0 Optic

atrophy on the involved side was present in both

cases, and accompanied by progressive visual loss in

one case. The two optic nerves were replaced by

Fig. 12. Choristoma of the optic nerve. Note the enlarged retrolam- inar portion of the optic nerve with replacement of the nerve substance by muscle and adipose tissue. [x4, Hematoxylin and eosin. (Courtesy of Richard O’Grady, MD, Northwestern University, Chicago).]

OCULAR CHORISTOMAS

Fig. 13. Prelenticular whitish membrane attached to the iris at 12 o’clock with inferotemporal limbal choristoma in a 4-year-old boy with Goldenhar syndrome.

smooth muscle and adipose tissue.

H. RETINAL CHOIUSTOMA

An accessory ciliary body has been reported in the dysplastic retina of a patient with anenceph- sly,“‘” and in a patient with trisomy 13 (Tso MOM: AOA-AFIP meeting 198’7).

I. ANTERIOR UVEAL CHORISTOMAS

Choristomas of the iris and ciliary body present as cysts or nodular masses. Dermoid cysts of the iris are acquired lesions and are not included in this discussion. Ectopic lacrimal gland tissue is a common choristoma of the iris and ciliary body (Table 6). The similarity of the glandular structures in these intraocular lesions to those of the lacrimal glands have been substantiated by electron microscopic studies.““’ Ectopic lacrimal gland of the iris has been reported in an eye with an epibulbar choristoma.“” Cartilage has been found adjacent to anterior uveal colobomata,““’ often with trisomy 139’“. (::I or cyclopia,““l Heterotopic ciliary processes have been found attached to the iris in a case of’ triploidy. ““J

Six cases of choristomatous malformation of the iris, known as the prelenticular membrane, have been reported. lo.Ii.:~:i.4li.I(il’.L’it~ The membrane has been mistaken for intraocular spread of epibulbar choristomas.“” We have followed a 4-year-old boy since birth for a superior whitish avascular prelen- titular membrane not connected to an inferotemporal limbal choristoma (Fig. 13).

J. CHOROIDAL CHORISTOMAS

The majority of choroidal choristomas are of the osseous variety, although heterotopic smooth muscle has been noted in the choroid in eyes with cryptophthalmos.‘“’ Most choroidal osteomas are XC-

Fig. I?. Choroidal osteoma covering the posterior pole. (Courtesy of-Lee M. Jampol, MD, Northwestern Univcr-- sky, (:hicago.)

quired lesions that occur adjacent to choroidal hemangiomas,“‘” and in phthisis bulbi or chronic intraocular inflammation. The origin of the osteoma has been related to the proliferation and metaplasia of the retinal pigment epithelium:“” However, there is evidence that some choroidal osteomas represent choristomatous growths according to the following criteria: detection in infancy’“’ or below six,h”~X.1~‘X5.‘?9” familial occurrence,“” and association with epibulbar choristomas. Io.;.llii.lx’,.“:~I) Of 27 choroidal osteomas reported in the literature 7.iX.~~~l.X-1.!17.!1X,l~~,l~.~,l~7,~~~l~ ‘)3 were in women. Le_

sions were bilateral in seven patients,7.~~~l.‘17.1~i.l~!l

Eighteen lesions underwent growth and/or development of subretinal neovascular membranes. Pa- tient ages ranged from 6 months’“’ to 36 years.!” with a mean age of 19 years. Five patients’ ages were in the first decade, 10 in the second, 9 in the third, and 3 in the fourth. Several eyes were enucleated because of the suspicion of a malignancy.~“,““‘” The characteristic fundus appearance is a juxtapapillary flat yellow-white choroidal lesion with overlying pigmentary clumping; occasionally multiple short branching vascular trunks are present on the surface (Fig. 14).“’ Ultrasonographic and radiographic studies help to establish a definitive diagnosis. Symptoms develop when the osteoma grows to involve the fovea. A common presenting symptom is metamorphopsia from a subretinal neovascular membrane developing in the macular region.!‘!’

III. Summary

Choristomas represent the commonest epibulbar lesions in childhood. They have predilection for the

352 SW-V Ophthalmol 33 (5) March-April 1989

subconjunctival space, the limbus, and the cornea. They present a wide clinical spectrum, mimicking cornea1 dystrophies and epibulbar malignancies. They are benign tumors, and rarely grow. About 10% of epibulbar choristomas are associated with either Goldenhar syndrome or linear epidermal nevus syndrome. Epibulbar choristomas are occasionally familial. Cornea1 choristomas are managed by a lamellar or a penetrating keratoplasty. Surgical excision of limbal choristomas should be performed with caution because of an associated limbal ectasia. Limited excision is indicated in subconjunctival choristomas that extend posteriorly into the orbit. Epibulbar choristomas are associated with choroi- da1 osteomas, cartilaginous choristomas of the eyelids, dermoid cysts of the orbit, and various systemic choristomas. Choristomas may also occur in non- epibulbar areas, e.g., sclera, eyelid, or orbit, extraocular muscle, optic nerve head, retina, uvea, and choroid.

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Outline

I Epibulbar choristomas A. Historical perspective B. Incidence

E. Association with the epidermal nevus syndrome

C. Clinical features D. Association with Goldenhar syndrome

MANSOUR ET AL

F. Inheritance G. Histopathology H. Pathogenesis I. Surgical intervention

II. Choristomas outside the epibulbar region A. Episcleral osseous choristomas B. Scleral choristomas C. Eyelid choristomas D. Orbital choristomas E. Choristomas of the extraocular muscles F. Optic nerve head choristomas G. Choristomas of optic nerve and chiasm H. Retinal choristomas I. Anterior uveal choristomas J. Choroidal choristomas

III. Summary

Supported by a research grant from UNlCEF, Paris, France (Dr. Mansour).

Reprint requests should be addressed to Ahmad Mansour, M.D., Department ofophthalmology, University ofTexas Medi- cal Branch, Galveston, TX 77550.

Ocular choristomas

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