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Ocular symptoms and signs in patients with ectodermal dysplasia syndromes

  • Clinical Investigation
  • Published:
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Abstract

Purpose

The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes.

Methods

Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin–Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity.

Methods

Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life.

Conclusions

Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

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References

  1. Brenner S, Miller JH (2001) Encyclopedia of genetics. Academic Press, San Diego, pp 559–601

  2. McKusick V (1988) Mendelian inheritance in man. Catalogs of autosomal dominant, autosomal recessive and x-linked phenotypes. The John Hopkins University Press, Baltimore, pp 137, 215–217, 1784, 1816–1817, 3404–3406

  3. www.nfed.org/nfedserv.htm

  4. Koniszewski G, Maywald M, Henke V (1987) Augenbeteiligung bei ektodermaler Dysplasie. Klin Monatsbl Augenheilkd 190:519–523

    CAS  PubMed  Google Scholar 

  5. Mawhorter LG, Ruttum MS, Koenig SB (1985) Keratopathy in a family with ectrodactyly–ectodermal dysplasia–clefting syndrome. Ophthalmology 92:1427–1431

    CAS  PubMed  Google Scholar 

  6. Käsmann B, Ruprecht KW (1997) Ocular manifestations in a father and a son with EEC syndrome. Graefes Arch Clin Exp Ophthalmol. 235:512–516

    Google Scholar 

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

    PubMed  Google Scholar 

  8. Mondino BJ, Bath PE, Foos RY et al (1984) Absent meibomian glands in the ectrodactyly, ectodermal dysplasia, cleft lip-palate syndrome. Am J Ophthalmol 97:496–500

    CAS  PubMed  Google Scholar 

  9. Ireland IA, Meyer DR (1998) Ophthalmic manifestations of ectrodactyly–ectodermal dysplasia–clefting syndrome. Ophthalmic Plast Reconstr Surg 14:295–297

    CAS  Google Scholar 

  10. Bron AJ, Benjamin L, Snibson GR (1991) Meibomian gland disease. Classification and grading of lid changes. Eye 5:395–411

    PubMed  Google Scholar 

  11. Robin JB, Jester JV, Nobe J et al (1985) In vivo transillumination biomicroscopy and photography of meibomian gland dysfunction. A clinical study. Ophthalmology 92:1423–1426

    CAS  PubMed  Google Scholar 

  12. Clarke A (1987) Hypohidrotic ectodermal dysplasia. J Med Genet 24:659–663

    CAS  PubMed  Google Scholar 

  13. Goeckermann WH (1920) Congenital ectodermal defect, with report of a case. Arch Syph Dermatol 1:396–412

    Google Scholar 

  14. Clouston HR (1929) A hereditary ectodermal dystrophy. Can Med Ass J 21:18- 31

    Google Scholar 

  15. Weech AA (1928) Hereditary ectodermal dysplasia (congenital ectodermal defect). A report of two cases. Am J Dis Child 37:766–790

    Google Scholar 

  16. Felsher Z (1944) Hereditary ectodermal dysplasia. Report of a case, with experimental study. Arch Dermatol Syph 49:410–414

    Google Scholar 

  17. Baum JL, Bull MJ (1974) Ocular manifestations of the ectrodactyly, ectodermal dyplasia, cleft lip-palate syndrome. Am J Ophthalmol 78:211–216

    CAS  PubMed  Google Scholar 

  18. Torens S, Berger E, Stave J, Guthoff R (2000) Klinische Untersuchung zur Verweildauer und Wirkdauer von Liposic AT bei Keratokonjunktivitis sicca. Ophthalmologe 97:S55

    Article  Google Scholar 

  19. Bronsgeest-Schoute HC, van Gent CM, Luten JB, Ruiter A (1981) The effect of various intakes of ω-3-fatty acids on the blood lipid composition in healthy human subjects. Am J Clin Nutr 34:1752–1757

    CAS  PubMed  Google Scholar 

  20. Qumsiyeh M (1992) EEC syndrome is on 7q11.2-q21.3. Letter. Clin Genet 42:101

    CAS  PubMed  Google Scholar 

  21. Fukushima Y, Ohashi H, Hasegawa T (1993): The breakpoints of the EEC Syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) confirmed to 7q11.21 and 9p12 by fluorescence in situ hybridization. Letter. Clin Genet 44:50

    CAS  PubMed  Google Scholar 

  22. Srivastava A, Pispa J, Hartung A et al (1997) The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. Proc Natl Acad Sci USA 94:13069–13074

    CAS  PubMed  Google Scholar 

  23. Blecher SR, Kapalanga J, Lalonde D (1990) Induction of sweat glands by epidermal growth factor in murine x-linked anhidrotic ectodermal dysplasia. Nature 345:542–544

    Article  CAS  PubMed  Google Scholar 

Download references

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Authors and Affiliations

  1. City Eye Hospital, Bremserstrasse 79, 67063 , Ludwigshafen, Germany

    T. Kaercher

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  1. T. Kaercher
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Correspondence to T. Kaercher.

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Kaercher, T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefe's Arch Clin Exp Ophthalmol 242, 495–500 (2004). https://doi.org/10.1007/s00417-004-0868-0

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  • DOI: https://doi.org/10.1007/s00417-004-0868-0

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