Australian and New Zealand Journal of Ophthalmology 1988; 16: 119-125

A CASE OF CONGENITAL ECTROPION IN DOWN’S SYNDROME

ROSS MILLER FRACO, FRACS Registrar in Ophthalmology, The Children’s Hasptal, Camperdown. New South Wales

FRANK MARTIN mco, mcs

HUGH ALLEN YB as, mcp

Department of Ophthalmology. The Children’s Hosptal, Camperdown. New South Wales

Department of Paediatrm. Royal North Shore Hosptal, St Leonards. New South Wales

Abstract A rare case of primary congenital ectropion of all 4 eyelids in a child with Down’s syndrome is reported to emphasise the problems of surghl management and to distinguish the condition from congenital eversion of the eyelids. Congenital ectropion is assdted with other eyelid abnormalirk and usually requires surgical measures to protect the cornea in contrast to congenital eversion which is characterised by the protru- sion of oedematous conjunctiva from everted eyelids. This usually resolves spontaneously with simple supportive measures and no structural or functional eyelid abnormality remains.

Key words: Congenital ectropion. congenital eyelid eversion, Down‘s syndrome.

Ectropion and eversion are 2 rare and distinct congenital conditions which may present “once in a lifetime” to the ophthalmologist in the newborn nursery. Both have been described in Down’s syndrome and are sometimes confused. They present quite different clinical pictures and therapeutic challenges which will be discussed, beginning with a case of congenital ectropion to examine the problems in management.

CASE REPORT A female Caucasian infant was noted at birth to have ectropion of all the lids on attempted eyelid closure without chemosis or conjunctival swelling. The upper lids were more noticeably affected. The mother was a 35-year-old gravida 4 para 4 who smoked 20 cigarettes a day during the pregnancy. The full-term infant, weighing

3250 g with a length of 50 cm and a head circum- ference of 31 cm on the 50th, 25th and 1.5 cms below the 3rd percentile respectively, was born after a normal labour by a spontaneous vertex vaginal delivery. In addition to her obvious microcephaly she had very poor muscle tone with significant head lag, no spontaneous movement and weak cry. She had had peripheral stigmata of Down’s syndrome, normal deep tendon reflexes and some reduced power suggesting the hypotonia is central in origin. There was no cardiovascular abnormality present. Trisomy 21 was confirmed on chromosomal analysis.

Topical lubricants were prescribed (but not used) and after 1 month there was no improve- ment in the ectropion and a convergent strabismus had developed. At 3 months of age the infant was admitted to hospital for assess-

Reprint requests: Dr R. Miller, C/- Department of Ophthalmology, Westmead Hospital, Westmead, New South Wales, 2145 Australia.

A CASE OF CONGENITAL ECTROPION IN DOWN’S SYNDROME 119

Figure I: Age 3 months. Ectropion. especially of the upper lids, with elongated eyelids and esotropia.

Figure 5: Age 10 months. Left eye showing corneal opacification and vascularization.

Figure 2: Age 3 months. Ectropion is exaggerated Figure 6: Age 10% months. Two weeks after skin when crying. grafting to each eyelid to relieve vertical skin

deficiency.

Figure 3: One day after surgery to correct ectropion by horizontal lid shortening.

Figure 7: Age 13 months. Left eye showing a bright corneal reflex and resolution of keratitis.

F I I W 4: Age LO months. Minimal ectropion of upper lids. Vertical skin deficiency apparent in all eyelids.

Figure 8.- Congenital upper eyelid eversion at birth. Complete recovery took plaa in 3 weeks. (Reproduced

with permission.*)

120 AUSTRALIAN AND NEW ZEALAND JOURNAL OF OPHTHALMOLOGY

ment and surgical management. Obvious stigmata of Down’s syndrome were noted on admission. There was ectropion of all 4 lids, much more marked in the upper lids, which was accentuated by crying. The lids could be returned easily to their normal positons but immediately turned out again with grimace or crying (Figures 1’ 2).

Moderate lagophthalmos was evident in both eyes with a poor Bell’s phenomenon. The eyelids were elongated (megaloblepharon) as were the palpebral fissures (euryblepharon). Ectropion was not aggravated by mouth opening and indeed the tone of the eyelids was quite lax. Both globes were mildly hyperaemic with bilateral superficial keratitis, lower corneal vascularisa- tion and keratinisation of exposed conjunctiva. The globes were of normal size. There was a large alternating esotropia with good fixation behaviour and optokinetic nystagmus responses in each eye. The fundi and facial musculature appeared ciinically normal.

The patient was examined under anaesthesia and it was decided to shorten all 4 eyelids in view of the excessive lid laxity. Full-thickness tnan- gular wedge resections of the lateral half of each upper lid and the lateral third of each lower lid were performed, preserving the lateral canthal tendons to which the free ends of the tarsal plates were apposed and sutured with 6/0 chromic catgut. To close skin and muscle, and reinforce the canthal reconstruction, 6/0 black silk was used, with immediate correction of the ectropion.

Postoperatively there were no complications and no tendency to ectropion even when crying (Figure 3). There was about 2 mm of lago- phthalmos remaining after swelling had subsided. The child was discharged from hospital with chloromycetin eyedrops to see her local ophthalmologist for follow-up and management of strabismus. The interrupted skin sutures were removed 7 days, and the canthal sutures 14 days after surgery. Histologic examination of the resected eyelid wedges revealed normal eyelid structures with chronic inflammatory changes.

Eight months after the lid shortening there had been no improvement in the lagophthalmos. There was bilateral exposure keratitis with

epithelial ulceration and underlying stromal scar- ring with superficial vascularisation in each lower cornea, but the central corneas were relatively clear. The eyes remained open during sleep and there was no Bell’s phenomenon evident. There was, however, no tendency to ectropion. Minimal tarsal plate development was evident in the eyelids, and the alternating esotropia persisted. Vertical skin deficiency was prominent in each lid (Figures 4, 5).

In view of the severe corneal exposure, thinned full thickness skin grafts to the upper and lower lids were performed (10 days apart) on each side. Skin was obtained from the post auricular area for the right Iids and the inner aspect of the upper arm for the left lids. Full-length subciliary skin incisions on each lid were made 2 mm from the margins. The tension in each lid was immediately relieved, allowing the margins to be apposed more readily. Skin was undermined before the grafts were sutured in place. The right lateral canthus was considered to be slightly lax and was reinforced.

Frost sutures were used to maintain traction on the lids for 24 hours. Operation on the second eye was complicated by a transient bradycardia and hypotension without sequelae but there were no postoperative complications. The corneal epithelium healed rapidly and the lagophthalmos was relieved. Two months after surgery, aged 13 months, the corneas were clear and when the child sleeps there is minimal lagophthalmos (Figures 6, 7). Lubricant ointment is used at night.

DISCUSSION Congenital ectropion can be defined as an out- turning of the lid margin present at birth and rarely occurs in isolation. It may involve the upper and lower lids or both. Duke-Elder cites cases secondary to microphthalmos, buphthal- mos, orbitopalpebral cyst and apparently primary cases associated with ptosis and epicanthus and a dominant familial group with various other eyelid abnormalities.’ Megalo- blepharon, euryblepharon, microblepharon and tight orbital septum may coexist.’ A primary shortage of malar and lower eyelid skin with

121 A CASE OF CONGENITAL ECTROPION IN DOWN’S SYNDROME

partial coloboma of the lower eyelid due to underlying defects in the malar bone is seen in mandibulofacial dysostosis (Treacher-Collins syndrome). Other cases have been described secondary to skin diseases, notably ichthyosis congenita (Collodian baby) causing skin tightness.

The classification and associations of congen- ital ectropion can be summarised as follows. 1. Primary type, in association with other eyelid

abnormalities: Down’s syndrome Supernumerary rows of lashes Tarsal asplasia and hypoplasia Absence of the Meibomian glands Tight orbital septum Microblepharon (abnormally small eyelid) Megaloblepharon (abnormally large eyelid) Euryblepharon (abnormally large palpebral

Laxity of the lateral canthal ligaments Lateral displacement of the lateral canthus Blepharophimosis (abnormally small

Mandibulofacial dysostosis Partial coloboma of the lower lid Congenital facial paralysis.

orbital o r skin disease: Microphthalmos Bupht halmos Orbito palpebral cyst Primary skin diseases.

fissure)

palpebral fissure)

2. Secondary type, in association with ocular,

From these associations it becomes evident that 2 basic factors influence the development of congenital ectropion.

The ectropion may arise from vertical skin deficiency when the eyelid may be small or other- wise normal, but the excessively lax eyelid also predisposes to its development.

The generalized connective tissue laxity in Down’s syndrome babies may be reflected in the eyelids predisposing to ectropion and when the lids are excessively elongated forced contraction of the orbicularis muscle appears to exaggerate the ectropion.

In our patient both mechanisms influenced the surgical management as the ectropion was

relieved by lid shortening but the lagophthalmos and exposure persisted until vertical skin tight- ness was relieved. Ultimately, both a satisfactory cosmetic and functional result was achieved.

Surgical intervention in true congenital ectropion is indicated for cosmesis and exposure keratitis. The surgical planning should take into account the individual features of each case which, may require skin grafting or transposi- tional flaps where there is manifest tightness and lid shortening where excessive laxity is evident. Deferment of surgery has been suggested in uncomplicated cases associated with only megaloblepharon where the lids are too large for the eye and orbit. By the age of 2% years the child will have attained 50% of the growth of the orbit and adnexae and the anomaly may have largely resolved.’ Obviously the hazards of corneal exposure must be considered in the interim, and careful follow-up of all cases with exposure is important to avoid corneal scarring and consequent amblyopia.

The characteristic eyelid findings in Down’s syndrome are a mongoloid slant of the palpebral fissues, epicanthal folds and blepharitis. Only one other case of true congenital ectropion of all 4 eyelids with megaloblepharon and lateral canthal laxity in Down’s syndrome has previ- ously been published4 and the authors allude to another probable case but do not discuss vertical skin deficiency. There are, however, several reports of congenital eyelid eversion in Down’s syndrome True congenital eyelid ectropion should be clearly distinguished from congenital eyelid eversion (Figure 8). Both are extremely uncommon and can occur with Down’s syndrome. Unfortunately, sometimes these terms have been used interchangeably in the literature. Their clinical differences have been recognized and emphasized with respect to their natural and therapeutic h i s t o r i e ~ . ~ . ~ . ~ . ~ ~ A review of the literature up to 1969’ of both types revealed only 5 of 29 cases typical of true ectropion.

Congenital Eyelid Eversion Also called congenital prolapse of the conjunc- tiva, this entity is very rare and is defined as a

I 22 AUSTRALIAN AND NEW ZEALAND JOURNAL OF OPHTHALMOLOGY

folding of the eyelid back on itself so that the conjunctiva is externalized. Some cascs described as congenital ectropion are really eversion as it appears traditional to refer to eversion as complete or extreme ectropion at any age.

In contrast to ectropion, however, this condi- tion presents at birth with variable degrees (often extreme) of bilateral swelling and protrusion of the conjunctiva usually concealing the globes which may be examined using a Desmarre’s retractor and are found to be normal.

Understandably, nursery staff and parents are very alarmed by these appearances and urgent consultation is sought. Analysis of the references of a recent case reporta0 revealed that of 20 cases, 18 involved only upper lids.

Typically the affected lids are everted and the conjunctiva exposed, chemotic and congested without purulent exudate. There may be marked asymmetry but the condition is always bilateral in contrast to a congenital orbital mass or haemangioma which should be considered in unilateral cases.

In milder cases, the lid may be in its normal position during sleep and only evert on waking or with bright light. The degree of discomfort due to these changes is unclear in the newborn. The corneas are buried beneath the conjunctiva and are protected from exposure in contrast to cases of ectropion. Blepharospasm will accen- tuate the eversion and swelling. There is no true proptosis and the globes are characteristically normal.

Two cases of late onset eversion with normal eyelids at birth have been reported; one at I I days postnatallyl’ attributed to “conjunctivitis” with blepharospasm, and the other at 2 years of age,” to a febrile illness.

Voluntary eversion of the eyelids has b a n described in children and adults”.” without chemosis. Duke-ElderVa also describes spastic eversion when attempting to force open the closed eye of a normal infant which may pfogress

to congestion and chemosis if not re-inverted (paraphimosis palpebrae). Conjunctival P f O b C has been described as a complication of ptosis surgeryn4 and many other operative procedures.

Aetiology and Management 01 Congenital Eversion Over the past 90 years there have been nearly as many theories as cases of this alarming phenomenon. It is associated with Down’s syndrome, but occurs more commonly in normal negro babies and normal children of multipMwts mothers. Prolonged labour, difficult ddivcry. face presentation and forceps trauma have been proposed as causes but typical cases have occurred with elective Caesarian section, suggesting that the eversion can occur in u r m . Many underlying eyelid abnormalities have been proposeda5 but a recent case report and review of the literatureao suggests that the lids are prob- ably normal and that lid hypotonia and other transient features are secondary to the sustained eversion. Ultimate mum of nonnd lid appear- ance and function without surgery supports this view that a primary developmental abnormality of the eyelids is unlikely. Some cases of ewrtion of uppa lids in Down’s syndrome, h o w , may be more likely to persist if the affected lids arc elongated and lax to begin with.’

The postulated initiating event is orbicularis spasm of unknown origin with the sphincta-like preseptal orbicularis evcrtiw the lids and hindering normal venous and lymphatic return. Unless relieved, this strangulation and conges- tion rapidly kads to a Vicious cyck of pro$rersive oedema and tightness in the distensible lid tissues. The supratarsal conjunctiva readily protrudes, “splinting” the lid in the everted position.

The upper lid may be more prone to this sequence as its wider tarsal plate, once everted, may be more diffmlt to reinvert spontaneously. Facial nerve blocks have successfully prevented re-eversion,” which supports the theory that orbicularis spasm is at least involved in sustaining the eversion.

Crcde prophlaxis and ophthalmia numatorum are not considered actiologic as the problem i s present from birth. Organisms isolated from conjunctival swabs in such cases refkc! thc normal bacterial contaminants of the conjuac- tival sac from the perineum and prc not considered causative.“ One reported W’’

A CASE OF CONGENITAL ECfllOPtON IN DOWN’S SYNDROME 123

TABLE I Comparing and Contrasting Congenital Eversion and Congenital Ectropion

Factor Eversion Ectropion Definition Eyelid folded back on itself Out-turning of eyelid margin Aetiology Probably orbicularis spasm in a Other eyelid abnormalities predispose.

normal eyelid Incidence Very rare Extremely rare Presentation At birth At birth or later with keratitis Pattern

Primary and secondary types

Bilateral, usually upper lids

Down’s syndrome cases may exhibit

Unilateral or bilateral, upper or lower

Down’s syndrome. Other eyelid, ocular

lids or both depending on associations

and systemic abnormalities

Persists, exposure keratitis and

Associations

Chemosis and congestion Yes No Corneal exposure risk No Yes Natural history

Management goals Keep exposed tissue moist Protect cornea, cosmesis Therapy Usually responds quickly to simple Lubricants. Usually needs surgical

upper lid laxity

Self-limiting; some cases in Down’s syndrome more resistant conjunctivitis due to ectropion or

lagophthalmos

conservative measures correction

describes a progressive ulceration of the exposed swollen conjunctiva with worsening eyelid oedema attributed to Staphylococcus epidermidis infection whilst on topical tetracycline ointment. The patient underwent conjunctival excision and surgical correction of the eversion on the third day of life with a “satisfactory cosmetic and functional result”, but no histologic evidence of infection was reported in the excised conjunctiva and dryness, ulceration or sloughing might be expected in severe or neglected cases anyway.

The treatment of congenital upper lid eversion can be summarized as follows.1o 1.

2.

Non surgical: Lubricants Topical antibiotics and steroids Taping Moist chamber Hyaluronidase injection of conjunctiva Surgical: Intermarginal sutures Tarsorrhaphy Plastic revision.

Attempted reduction or replacement of the chemotic conjunctiva is usually fruitless and the lids are difficult to maintain in their normal posi- tion with tape. Although both minor and major surgical procedures have been advocated,5*s their efficacy must be questioned because conserva- tive measures appear so successful in this transient condition.

In those cases managed with only topical antibiotics improvement was observed within one week and resolution within 2 to 3 weeks. All cases regain normal eyelid appearance and func- tion quickly, although there may be transient lid laxity in some cases. There is no danger of exposure keratitis, but for difficult cases minimal and reversible surgical measures can be con- sidered. Conjunctiva should not be excised, but must be protected from drying. Major plastic surgery carries the risk of later structural defor- mity in the eyelid and the risks of general anaesthesia in the newborn. In theory, extensive surgery may prolong the period of total occlu- sion and be more amblyogenic than minimal treatment measures.‘O

In conclusion, true congenital ectropion and eyelid eversion are clinically quite distinct entities although both occur in Down’s syndrome. In our case abnormally tight tissues and long eyelids predisposed to lagophthalmos and ectropion, whereas in cases of eversion it appears that orbicularis spasm in a normal eyelid precipitates a vicious circle of conjunctival strangulation and protrusion. Contraction of the orbicularis muscle obviously influences both conditions, but they follow different courses. The basis for orbicularis spasm, strangulation and “spon- taneous” recovery in congenital eversion remains unclear. The two conditions are outlined in Table 1.

124 AUSTRALIAN AND NEW ZEALAND JOURNAL OF OPHTHALMOLOGY

SUMMARY Two rare congenital abnormalities of the eyelids which may occur in Down’s syndrome are distin- guished to facilitate their recognition and appropriate management. The aims in congen- ital ectropion are to protect the cornea and improve cosmesis.

If there is corneal exposure immediate correc- tion is warranted, the technique depending on the laxity or tightness of the lids which must be carefully assessed preoperatively in each case. Despite the alarming presentation of congenital eyelid eversion, its benign course justifies a temporizing approach in anticipation of an excellent result.

ACKNOWLEDGEMENTS Dr P. A. Rogers for help and advice regarding management, Dr C. Baker for assistance with ongoing management, Miss M. M. Markezic for typing the manuscript and Mrs Pixie Maloney for preparation of the illustrations.

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5. Young RJ. Congenital ectropion of the upper Lids. Arch Dis Child 1954; 29 97-100.

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(Received 4 December 1987)

A CASE OF CONGENITAL ECTROPION IN DOWN’S SYNDROME 125