Floppy eyelid syndrome in an infant

Dear Editor, Culbertson et al1 described the floppy eyelid syndrome (FES) in 1981 in middle aged obese men with history of nocturnal eye lid eversion. Later papers describe FES in young and non-obese patients,2 in downs syndrome3 and in congenital cataracts facial dysmorphism neuropathy (CCFDN).4 A one year old child with Down's syndrome presented with a history of eversion of upper eyelids during sleep since birth which used to get normalized on waking up. The child was fixing light but had photophobia and discharge in both eyes. Both upper lids were lax, tarsi were thick and rubbery. Upper eyelids spontaneously everted while crying revealing congested palpebral conjunctiva with papillae. Right cornea was clear. Left cornea was hazy and had an ulcer, 4×3 mm in the inferior part surrounded by punctate staining indicative of exposure keratopathy. Taping of the lids during sleep, tear supplements, topical antibiotics and cycloplegics were advised. The ulcer healed in 2 weeks. FES was first described as rubbery floppy upper eyelids and papillary conjunctivitis of the upper palpebral conjunctiva in overweight men.1 It was named so because of the most prominent clinical feature, the rubbery, malleable upper tarsus. All reported cases had nocturnal lid eversion. Any external upward force applied gently to the upper eyelid caused the tarsus to evert in a gradual rolling motion instead of the all or nothing popping out of the tarsus. Later papers reported FES in young, nonobese patients2 as young as 2 years but not since birth. Our patient has rubbery, malleable upper tarsus and there was eversion of both upper lids during sleep and while crying since birth. Clinical associations in the FES include punctate epithelial keratopathy, keratoconus, chronic papillary conjunctivitis, Meibomian gland dysfunction, blepharochalasis syndrome and sleep apnea syndrome. Histology shows a marked decrease in the amount of elastin fibers in the tarsal plates of affected patients.5 Theories regarding the pathogenesis of FES include (i) systemic hypoventilation in sleep apnea with reperfusion oxidation injury of the eyelid. (ii) compression of the eyelids from sleeping on one side with subsequent eyelid ischemia.(iii) Mechanical stimuli like unilateral eye rubbing, sleeping face down on the affected side or driving the side of the face into the pillow FES since birth has been reported in CCFDN syndrome,4 but spontaneous eversion of eyelids is not mentioned in literature. Our patient had FES since birth, but there was no history of any mechanical stimuli. As we haven′t observed the sleep pattern to rule out the same, we presume that congenital abnormality of the tarsus could be the cause for FES in our patient. The conjunctivitis in FES can be managed by patching at night, lubrication, tarsorrhaphy and upper lid tightening procedures like full thickness wedge resection and lateral tarsal strip procedure. Parents of the child were advised regarding the importance of regular three monthly follow up and the possible need for upper lid surgery in case of recurrent keratitis. After our extensive search of literature, we believe that this is the first case of FES with easy eversion of lids present since birth in Down's syndrome. FES since birth has been reported previously in patients with CCFDN syndrome but not in Down's syndrome as far as we know. Ophthalmologists dealing with infants and children should be aware of the possible association between Down's syndrome and FES which may predispose these children to corneal problems.