International Ophthalmology

, Volume 32, Issue 5, pp 475–480 | Cite as

Corneal changes in ectrodactyly–ectodermal dysplasia–cleft lip and palate syndrome: case series and literature review

  • Anthony F. Felipe
  • Azin Abazari
  • Kristin M. Hammersmith
  • Christopher J. Rapuano
  • Parveen K. Nagra
  • Baltasar Moratal Peiro
Case Report


The aim of this study is to describe the corneal changes in three unrelated patients with ectrodactyly–ectodermal dysplasia–cleft lip and palate (EEC) syndrome and review the literature on the possible etiology and clinical presentation of similar cases. Case 1 is an 18-year-old female with cleft lip and palate, syndactyly, and bilateral corneal pannus superiorly and inferiorly. She was initially diagnosed and treated as herpes simplex virus keratitis. Case 2 is a 3-year-old female born with cleft lip and palate, absent radial digits in both hands, and bilateral lacrimal stenosis. She developed progressive stromal scarring and neovascularization in both eyes. Her cornea perforated after developing infectious ulceration. Case 3 is a 49-year-old male with cleft palate, claw-hand deformities, absent meibomian glands and lacrimal duct, right ankyloblepharon, and a superior wedge-shaped opacity in the left cornea. The clinical findings demonstrated the different spectrum of keratopathy seen in patients with EEC. All patients were treated medically and without any surgical intervention. Limbal stem cell deficiency (LSCD) is presumed to be the cause in all three cases. Corneal changes in EEC can have variable presentation. LSCD seems to be the etiology of such keratopathy. Recurrent infection from lacrimal drainage obstruction and tear film instability are other risk factors for disease severity and progression.


Ectrodactyly–ectodermal dysplasia–cleft lip and palate (EEC) syndrome Keratopathy Limbal stem cell deficiency p63 Mutation 


Conflict of interest

Dr. Rapuano is a consultant and speaker for Allergan, Bausch & Lomb, and Merck and has stocks in Rapid Pathogen Systems. No other authors have proprietary or commercial interests in any concept or product discussed in this article.


  1. 1.
    Cockayne EA (1936) Cleft palate, hare lip, dacryocystitis and cleft hand and feet. Biometrika 28:60–63Google Scholar
  2. 2.
    Walker JC, Clodius L (1963) The syndrome of cleft lip, cleft palate and lobster claw deformities of the hands and feet. Plast Reconstr Surg 32:627–636PubMedCrossRefGoogle Scholar
  3. 3.
    Rudiger RA, Haase W, Passage E (1970) Association of ectrodactyly, ectodermal dysplasia and cleft lip–palate. Am J Dis Child 120:160–163PubMedGoogle Scholar
  4. 4.
    Weigmann OA, Walker FA (1970) The syndrome of lobster claw deformity and naso-lacrimal duct obstruction. J Pediatr Ophthalmol Strabismus 7:79–85Google Scholar
  5. 5.
    Kaiser-Kupfer M (1973) Ectrodactyly, ectodermal dysplasia and clefting syndrome. Am J Ophthalmol 76:992–998PubMedGoogle Scholar
  6. 6.
    Wilson F II, Grayson M, Pieroni D (1973) Corneal changes in ectodermal dysplasia; case report, histopathology, and differential diagnosis. Am J Ophthalmol 75:17–27PubMedGoogle Scholar
  7. 7.
    Mondino BJ, Bath PE, Foos RY, Apt L, Rajacich GM (1984) Absent meibomian glands in ectrodactyly, ectodermal dysplasia, cleft lip palate syndrome. Am J Ophthalmol 97:496–500PubMedGoogle Scholar
  8. 8.
    Baum J, Bull M (1974) Ocular manifestation of the ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome. Am J Ophthalmol 78:211–214PubMedGoogle Scholar
  9. 9.
    Mawhorter LG, Ruttum MS, Koenig SB (1985) Keratopathy in a family with the ectrodactyly–ectodermal dysplasia–clefting syndrome. Ophthalmology 92:1427–1431PubMedGoogle Scholar
  10. 10.
    McNaab AA, Potts MJ, Welham RA (1989) The EEC syndrome and its ocular manifestations. Br J Ophthalmol 73:261–264CrossRefGoogle Scholar
  11. 11.
    Kasmann B, Ruprecht K (1997) Ocular manifestations in a father and son with EEC syndrome. Graefe’s Arch Clin Exp Ophthalmol 235:512–516CrossRefGoogle Scholar
  12. 12.
    Tijmes NT, Zaal MJ, De Jong PT, Volker-Dieben HJ (1997) Two families with dyshidrotic ectodermal dysplasia associated with ingrowth of corneal vessels, limbal hair growth, and Bitot-like conjunctival anomalies. Ophthalmic Genet 18:185–192PubMedCrossRefGoogle Scholar
  13. 13.
    Di Iorio E, Kaye SB, Ponzin D, Barbaro V, Ferrari S, Böhm E, Nardiello P, Castaldo G, McGrath JA, Willoughby CE (2012) Limbal stem cell deficiency and ocular phenotype in ectrodactyly–ectodermal dysplasia–clefting syndrome caused by p63 mutations. Ophthalmology 119:74–83PubMedCrossRefGoogle Scholar
  14. 14.
    Jeng BH, Halfpenny CP, Meisler DM, Stock EL (2011) Management of focal limbal stem cell deficiency associated with soft contact lens wear. Cornea 30:18–23Google Scholar
  15. 15.
    Kirzhner M, Jakobiec FA (2011) Ocular cicatricial pemphigoid: a review of clinical features, immunopathology, differential diagnosis, and current management. Semin Ophthalmol 26:270–277Google Scholar

Copyright information

© Springer Science+Business Media B.V. 2012

Authors and Affiliations

  • Anthony F. Felipe
    • 1
  • Azin Abazari
    • 1
  • Kristin M. Hammersmith
    • 1
  • Christopher J. Rapuano
    • 1
  • Parveen K. Nagra
    • 1
  • Baltasar Moratal Peiro
    • 2
  1. 1.Cornea Service–Wills Eye InstitutePhiladelphiaUSA
  2. 2.Servicio de Oftalmologia-Hospital General De CastellonCastellón de la PlanaSpain

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