ABSENT MEIBOMIAN GLANDS: A MARKER FOR EECSYNDROME ELIZABETH BONNAR, PATRICIA LOGAN and PETER EUSTACE Dublin, Ireland SUMMARY watering eye for the previous week. He gave a A patient with a 20 year history of severe keratocon­ history of continuous attendance at eye clinics in junctivitis of unknown origin was found, on assessment various hospitals since the age of 3 years and was at a blepharitis clinic, to have complete absence of currently attending our own clinic, where he had last meibomian glands. Further examination revealed the been seen 1 month previously. Maintenance medica­ features of EEC syndrome. To our knowledge, this is tion was antiviral ointment and artificial tears. Old the only case to have been diagnosed in this way. The notes were unavailable on admission but there had ocular complications of EEC syndrome and other been a previous spontaneous perforation of the left ectodermal dysplasias are reviewed. cornea at the age of 15 years, and an operation for a blocked tear duct on the right side at the age of 8 The combination of ectrodactyly (lobster claw years. deformity of the hands and feet), ectodermal Vision was 6/18 on the right and hand movements dysplasia (abnormalities of hair, teeth, nails and on the left. There was marked photophobia and sweat glands) and cleft lip and palate, known as EEC tearing on both sides. The left cornea was opacified syndrome, is a rare multiple congenital abnormal­ and vascularised 360°, with central thinning and a ity.1,2 Fewer than 180 cases have been reported in the small perforation just inferonasal to the pupil (Fig. literature?-S 1). The right cornea was opacified and vascularised Inheritance is autosomal dominant (AD), with superiorly. Conservative management of the perfora­ incomplete penetrance and variable expressivity, so tion was instituted. Because of 'severe blepharitis' that not all features are present in every case.6 thought to be contributory to the corneal condition, Sporadic cases also arise. the patient was referred to a blepharitis clinic where Ocular manifestations are frequent, the most he was seen the following morning. Screening common being disorders of the lacrimal drainage procedures for blepharitis were carried out, and system7,8 and sight-threatening keratopathy.9,lo Rarely, complete or partial absence of the meibo­ while the lids were thickened and red-rimmed, no mian glands has been recorded.9,1l,12 evidence of recognisable blepharitis, or any asso­ In this paper we describe how a patient with a 20 ciated skin condition such as atopy, eczema, rosacea year history of severe keratoconjunctivitis of or seborrhoea, could be found.13 Meibomian gland unknown origin was found, on assessment at a assessment, part of the screening procedure,14 blepharitis clinic, to have complete absence of revealed that there were no detectable duct orifices meibomian glands. Further examination revealed in any of the four eyelids (Fig. 2). No meibomian the features of EEC syndrome. To our knowledge, gland tissue could be demonstrated at the slit lamp, this is the only case to have been diagnosed in this either by everting the lids or by transillumination.1s way. There was no evidence of hypoplastic glands, or of glands or ducts distorted by inflammationor destruc­ tive lid disease. CASE REPORT Complete absence of meibomian glands was A 23-year-old man presented with a spontaneous suggestive of a congenital rather than an acquired perforation of the left cornea, and a painful, red, cause. Congenital absence of meibomian glands is exceedingly rare,1l,14 but has been reported in EEC Correspondence to: Dr Elizabeth Bonnar, MRCOphth, Uni­ syndrome .II and ill anhidrotic ectodermal versity Department of Ophthalmology, Mater Misericordiae 9 ,12 Hospital, Eccles Street, Dublin, Ireland. dysplasia.16,17 Eye (1996) 10,355-361 © 1996 Royal College of Ophthalmologists 356 E. BONNAR ET AL. Fig. 1. Left cornea showing opacification, vascularisation Fig. 2. Right lower lid showing absence of meibomian and perforation. glands and duct openings. Fig. 3. Sparse scalp hair with wire-wool consistency. Fig. 4. Plantar view of the feet showing ectrodactyly of the right foot with syndactyly of toes three and four on the left. The patient's hands showed no deformity and was generally sparse and of a wire-wool consistency there was no cleft lip or palate. Although a history of (Fig. 3). Eyebrows and eyelashes were also sparse. sweating abnormality was absent, a search was made The teeth were grossly abnormal (Fig. 5). The for the other features of ectodermal dysplasia. The fingernails were ridged, split and deformed (Fig. 6). hair, in addition to showing male pattern baldness, Examination of the feet confirmed similar abnorm- ABSENT MEIBOMIAN GLANDS IN EEe SYNDROME 357 Fig. 5. Abnormal dentition: hypodontia and enamel Fig. 6. Fingernails showing ridging and splitting. dysplasia. Fig. 7. View of soft palate showing bifid uvula. alities in the toenails but also revealed ectrodactyly keratoconjunctivitis remained obscure. The opacifi­ of the right foot, together with syndactyly of toes cation and vascularisation of the left cornea gradu­ three and four of the left foot (Fig. 4). On the basis of ally extended to 360°, central thinning developed and these findings - ectrodactyly of the foot and a spontaneous corneal perforation occurred when abnormalities of the hair, teeth and nails - a the patient was 15 years old. This healed with diagnosis of EEC syndrome with incomplete expres­ conservative management. Treatment thereafter sion was made. consisted of antiviral ointment and artificial tears, The full history became available with the old with occasional topical antibiotics for intercurrent notes. Since the age of 3 years the patient had acute conjunctivitis. Persistent symptoms were attended ophthalmology clinics in various hospitals, photophobia, blepharospasm and mild epiphora. initially with bilateral nasolacrimal obstruction and Systematic re-examination following the diagnosis infection, present since birth. Repeated probings showed the palpebral fissures were narrow and the were carried out and at 8 years a successful right lid margins thickened. The mucocutaneous junction dacryocystorhinostomy (DCR) was performed. was sharply demarcated but very irregular (Fig. 2). Examination at that time showed all four puncta to Conjunctival fibrosis was present in both lower be closed by fibrosis. A lacrimal fistula was also fornices with symblepharon on the left. Of the present below the right lower punctum. Other lacrimal puncta, only the right upper one could be features were extensive conjunctival fibrosis, and located. Schirmer's test with anaesthesia gave 8 mm changes in the upper cornea on both sides, consisting of wetting after 5 minutes on the right but only 3 mm of nebular opacification and ingrowth of pannus. on the left. With the addition of fluoresceinthere was Staff opinions were obtained in the different complete absence of the lipid patterns normally seen, hospitals he attended. Trachoma, herpes simplex so that the tear film break-up time was not infection, Stevens Johnson syndrome and cicatricial applicable. In a similar case 11 the tear film break­ pemphigoid were considered, but the aetiology of the up time was classified as instantaneous. Examination 358 E. BONNAR ET AL. of the lens and fundus was normal on both sides. attendance.9.11 The most recent review of the ocular Axial length measurement performed at a later date manifestations of EEC syndrome published in 198910 showed the eyes to be microphthalmic (R 20.63 mm, fails to mention either previous reports of absent L 20.80 mm). meibomian glands or the state of the meibomian A dental consultation identified the anomalies as glands in the five new patients presented, two of hypodontia (partial absence of the permanent teeth) whom had spontaneous corneal perforation. A and enamel hypoplasia. The clefting component of report in 1990 of penetrating keratoplasty following the EEC syndrome was also found, minimally spontaneous corneal perforation in two patients with expressed as a bifid short uvula (Fig. 7). EEC syndrome makes no mention of meibomian glands.19 It would seem that the meibomian glands PROGRESS AND MANAGEMENT suffer from the 'Cinderella' syndrome in relation to The perforation of the left cornea healed with ophthalmic assessment, and that the number of cases conservative management. Conjunctival swabs grew of reduced or absent glands reported so far is Staphylococcus aureus sensitive to fucidin, which was artificially low. prescribed for topical use. Occasional episodes of Ectrodactyly or lobster claw deformity of the acute conjunctivitis on both sides have usually hands or feet can range from partial or complete responded to Oc chloramphenicol. Nasal swabs at absence of a digit to the full cleft hand or foot one point gave a heavy growth of S. aureus and the deformity (absence of the third digit with clefting nasal carrier state was eliminated with the use of into the proximal portion of the hand or foot and mupirocin nasal ointment. Maintenance therapy syndactyly of the remaining digits on each side of the consists of artificial tears. The corneal signs remain cleft). It usually occurs bilaterally and foot involve­ stable, the corrected vision being 6/9 in the right eye ment is common.20 It is inherited as an AD trait and and 2/60 in the left. occurs most frequently as an isolated defect. An In view of the absence of meibomian glands, the incidence of 1 in 90 000 has been quoted in reduced tear production, the presence of symble­ Denmark.21 The earliest reference to ectrodactyly pharon and probable inherent ectodermal defect of in the literature appears to have been in 1770.21 Its the cornea and conjunctiva, we feel penetrating firstassociation with cleft lip and palate was recorded keratoplasty would have a poor outcome in this in 1804, with other reports by Cockayne22 in 1936 patient. The goblet cells, which provide the third and Walker and Clodius21 in 1963, both of which element of the tear film, may also be deficient due to stressed the common accompaniment of lacrimal inherent defects in the conjunctiva and secondary to tract abnormalities.