Absent meibomian glands: A marker for EEC syndrome


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.


  1. 1

    Rudiger RA, Haase W, Passarge E . Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160–3.

    CAS  Article  Google Scholar 

  2. 2

    Harper J . Genetics and genodermatoses; ectodermal dysplasias. In: Champion RH, Burton JL, Ebling FJG, editors. Textbook of dermatology. Oxford: Blackwell Scientific, 1992:334–46.

  3. 3

    Freire-Maia N, Pinheiro M . Ectodermal dysplasias: some recollections and a classification. Birth Defects 1988;24(2):3–14.

    CAS  PubMed  Google Scholar 

  4. 4

    Fosko SW, Stenn KS, Bolognia JL . Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol 1992;27:249–56.

    CAS  Article  Google Scholar 

  5. 5

    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.

    CAS  Article  Google Scholar 

  6. 6

    Penchaszadeh VB, De Negrotti TC . Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression. J Med Genet 1976;13:281–4.

    CAS  Article  Google Scholar 

  7. 7

    Rodini ESO, Richieri-Costa A . EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet 1990;37:42–53.

    CAS  Article  Google Scholar 

  8. 8

    Kaiser-Kupfer M . Ectrodactyly, ectodermal dysplasia, and clefting syndrome. Am J Ophthalmol 1973;76:992–8.

    CAS  Article  Google Scholar 

  9. 9

    Baum JL, Bull MJ . Ocular manifestations of the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. Am J Ophthalmol 1974;78:211–6.

    CAS  Article  Google Scholar 

  10. 10

    McNab AA, Potts MJ, Welham RAN . The EEC syndrome and its ocular manifestations. Br J Ophthalmol 1989;73:261–4.

    CAS  Article  Google Scholar 

  11. 11

    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.

    CAS  Article  Google Scholar 

  12. 12

    Pashayan HM, Pruzansky S, Solomon L . The EEC syndrome: report of six patients. Birth Defects 1974;10:105–27.

    CAS  PubMed  Google Scholar 

  13. 13

    Bonnar E, Dowling S, Eustace P . A survey of blepharitis in pre-operative cataract patients. Eur J Implant Refract Surg 1994;6:87–92.

    Article  Google Scholar 

  14. 14

    Bron AJ, Benjamin L, Snibson GR . Meibomian gland disease: classification and grading of lid changes. Eye 1991;5:395–411.

    Article  Google Scholar 

  15. 15

    Robin JB, Jester JV, Nobe J, et al. In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. Ophthalmology 1985;92:1423–6.

    CAS  Article  Google Scholar 

  16. 16

    Holly FJ, Lemp MA . Tear physiology and dry eyes: review. Surv Ophthalmol 1977;22:69–87.

    CAS  Article  Google Scholar 

  17. 17

    Ekins MBC, Waring GO . Absent meibomian glands and reduced corneal sensation in hypohidrotic ectodermal dysplasia. J Pediatr Ophthalmol Strabismus 1981;18:44–7.

    CAS  PubMed  Google Scholar 

  18. 18

    Bron AJ, Mengher LS . Congenital deficiency of meibomian glands. Br J Ophthalmol 1987;71:312–4.

    CAS  Article  Google Scholar 

  19. 19

    Mader TH, Doyle Stulting R . Penetrating keratoplasty in ectodermal dysplasia. Am J Ophthalmol 1990;110:319–20.

    CAS  Article  Google Scholar 

  20. 20

    Horton WA, Hood OJ . Ectrodactyly. In: Buyse ML, editor. Birth defects encyclopedia. Oxford: Blackwell Scientific, 1990:605–6.

  21. 21

    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.

    CAS  Article  Google Scholar 

  22. 22

    Cockayne EA . Cleft palate, hare lip, dacryocystitis and cleft hand and feet. Biometrika 1936;28:60–3.

    Article  Google Scholar 

  23. 23

    Jorgensen RJ . Ectrodactyly-ectodermal dysplasia-clefting syndrome. In: Buyse ML, editor. Birth defects encyclopedia. Oxford: Blackwell Scientific, 1990:607–8.

  24. 24

    Spiegel J, Colton A . AEC syndrome: ankyloblepharon, ectodermal defects, and cleft lip and palate. J Am Acad Dermatol 1985;12:810–5.

    CAS  Article  Google Scholar 

  25. 25

    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.

    CAS  PubMed  Google Scholar 

  26. 26

    Wiegmann OA, Walker FA . The syndrome of lobster claw deformity and nasolacrimal obstruction. J Pediatr Ophthalmol 1970;7:79–85.

    Google Scholar 

  27. 27

    Beckerman BL . Lacrimal anomalies in anhidrotic ectodermal dysplasia. Am J Ophthalmol 1973;75:728–30.

    CAS  Article  Google Scholar 

  28. 28

    Wilson FM, Grayson M, Pieroni D . Corneal changes in ectodermal dysplasia. Am J Ophthalmol 1973;75:17–27.

    Article  Google Scholar 

  29. 29

    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.

    CAS  Article  Google Scholar 

  30. 30

    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.

    CAS  Article  Google Scholar 

  31. 31

    Trueb RM, Bruckner-Tuderman L, Burg G . Ectrodactyly-ectodermal dysplasia-clefting syndrome with scalp dermatitis [letter]. J Am Acad Dermatol 1993;29:505.

    CAS  Article  Google Scholar 

  32. 32

    Wald KJ, Hirose T, Topilow H . Ectodermal dysplasia, ectrodactyly, and clefting syndrome and bilateral retinal detachment. Arch Ophthalmol 1993;111:734.

    CAS  Article  Google Scholar 

  33. 33

    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.

    CAS  Article  Google Scholar 

  34. 34

    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.

    CAS  Article  Google Scholar 

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Correspondence to Elizabeth Bonnar.

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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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  • EEC syndrome
  • Ectodermal dysplasia
  • Meibomian glands
  • Blepharitis
  • Keratitis
  • Penetrating keratoplasty

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