Abstract
A patient with a 20 year history of severe keratoconjunctivitis of unknown origin was found, on assessment at a blepharitis clinic, to have complete absence of meibomian glands. Further examination revealed the features of EEC syndrome. To our knowledge, this is the only case to have been diagnosed in this way. The ocular complications of EEC syndrome and other ectodermal dysplasias are reviewed.
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Rudiger RA, Haase W, Passarge E . Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160–3.
Harper J . Genetics and genodermatoses; ectodermal dysplasias. In: Champion RH, Burton JL, Ebling FJG, editors. Textbook of dermatology. Oxford: Blackwell Scientific, 1992:334–46.
Freire-Maia N, Pinheiro M . Ectodermal dysplasias: some recollections and a classification. Birth Defects 1988;24(2):3–14.
Fosko SW, Stenn KS, Bolognia JL . Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol 1992;27:249–56.
Nardi AC, Ferreira U, Netto Junior NR, et al. Urinary tract involvement in EEC syndrome: a clinical study in 25 Brazilian patients. Am J Med Genet 1992;44:803–6.
Penchaszadeh VB, De Negrotti TC . Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. J Med Genet 1976;13:281–4.
Rodini ESO, Richieri-Costa A . EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet 1990;37:42–53.
Kaiser-Kupfer M . Ectrodactyly, ectodermal dysplasia, and clefting syndrome. Am J Ophthalmol 1973;76:992–8.
Baum JL, Bull MJ . Ocular manifestations of the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. Am J Ophthalmol 1974;78:211–6.
McNab AA, Potts MJ, Welham RAN . The EEC syndrome and its ocular manifestations. Br J Ophthalmol 1989;73:261–4.
Mondino BJ, Bath PE, Foos RY, et al. Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. Am J Ophthalmol 1984;97:496–500.
Pashayan HM, Pruzansky S, Solomon L . The EEC syndrome: report of six patients. Birth Defects 1974;10:105–27.
Bonnar E, Dowling S, Eustace P . A survey of blepharitis in pre-operative cataract patients. Eur J Implant Refract Surg 1994;6:87–92.
Bron AJ, Benjamin L, Snibson GR . Meibomian gland disease: classification and grading of lid changes. Eye 1991;5:395–411.
Robin JB, Jester JV, Nobe J, et al. In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. Ophthalmology 1985;92:1423–6.
Holly FJ, Lemp MA . Tear physiology and dry eyes: review. Surv Ophthalmol 1977;22:69–87.
Ekins MBC, Waring GO . Absent meibomian glands and reduced corneal sensation in hypohidrotic ectodermal dysplasia. J Pediatr Ophthalmol Strabismus 1981;18:44–7.
Bron AJ, Mengher LS . Congenital deficiency of meibomian glands. Br J Ophthalmol 1987;71:312–4.
Mader TH, Doyle Stulting R . Penetrating keratoplasty in ectodermal dysplasia. Am J Ophthalmol 1990;110:319–20.
Horton WA, Hood OJ . Ectrodactyly. In: Buyse ML, editor. Birth defects encyclopedia. Oxford: Blackwell Scientific, 1990:605–6.
Walker JC, Clodius L . The syndromes of cleft lip, cleft palate and lobster-claw deformities of hands and feet. Plast Reconstr Surg 1963;32:627–36.
Cockayne EA . Cleft palate, hare lip, dacryocystitis and cleft hand and feet. Biometrika 1936;28:60–3.
Jorgensen RJ . Ectrodactyly-ectodermal dysplasia-clefting syndrome. In: Buyse ML, editor. Birth defects encyclopedia. Oxford: Blackwell Scientific, 1990:607–8.
Spiegel J, Colton A . AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. J Am Acad Dermatol 1985;12:810–5.
Gualandri V, Ronzoni MG, Montagnani A, et al. Une famille atteinte de EEC syndrome (ectrodactily ectodermal-dysplasia clefting syndrome): variabilité clinique et conseil génétique. J Fr Ophtalmol 1986;9:855–7.
Wiegmann OA, Walker FA . The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediatr Ophthalmol 1970;7:79–85.
Beckerman BL . Lacrimal anomalies in anhidrotic ectodermal dysplasia. Am J Ophthalmol 1973;75:728–30.
Wilson FM, Grayson M, Pieroni D . Corneal changes in ectodermal dysplasia. Am J Ophthalmol 1973;75:17–27.
Viljoen DL, Smart R . Split-foot anomaly, microphthalmia, cleft-lip and cleft-palate, and mental retardation associated with a chromosome 6;13 translocation. Clin Dysmorphol 1993;2:274–7.
Rodini ES, Nardi A, Guion-Almeida ML, et al. Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. Am J Med Genet 1992;42:276–80.
Trueb RM, Bruckner-Tuderman L, Burg G . Ectrodactyly-ectodermal dysplasia-clefting syndrome with scalp dermatitis [letter]. J Am Acad Dermatol 1993;29:505.
Wald KJ, Hirose T, Topilow H . Ectodermal dysplasia, ectrodactyly, and clefting syndrome and bilateral retinal detachment. Arch Ophthalmol 1993;111:734.
Hayakawa M, Yanashima K, Kato K, et al. Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome [case report]. Ophthalmic Paediatr Genet 1989;10:287–92.
Anneren G, Andersson T, Lindgren PG, et al. Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis. Clin Genet 1991;40:257–62.
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Bonnar, E., Logan, P. & Eustace, P. Absent meibomian glands: A marker for EEC syndrome. Eye 10, 355–361 (1996). https://doi.org/10.1038/eye.1996.73
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DOI: https://doi.org/10.1038/eye.1996.73
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