Skip to main content
SpringerLink
Log in

Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency

  • Clinical Investigations
  • Published:
Graefe's Archive for Clinical and Experimental Ophthalmology Aims and scope Submit manuscript

Abstract

Since early infancy a male patient now 24 years of age had suffered from painful, recurrent, bilateral corneal erosions and blister formation after minimal skin trauma. Corneal erosions are quite unusual in non-scarring types of epidermolysis bullosa. The dermatological examination disclosed that the patient had clinical hallmarks of two rare genetic skin disorders, epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis. Both disorders could be traced back in the patient's maternal family to the mother's father and his brother, who were both said to have had similar eye complaints. Using biochemical means and electron microscopy of skin biopsy specimens, both diagnoses could be proven in the patient and his mother. We discuss the importance of lid hyperkeratoses in hemizygous males as a causative factor for the recurrence of bilateral corneal erosions due to the unique combination of epidermolysis bullosa simplex (Köbner) and X-linked ichthyosis with steroid sulfatase deficiency.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Aurora AL, Madhavan M, Rao S (1975) Ocular changes in epidermolysis bullosa letalis. Am J Ophthalmol 79:464–470

    Google Scholar 

  2. Brown N, Bron A (1976) Recurrent erosion of the cornea. Br J Ophthalmol 60: 84–96

    Google Scholar 

  3. Cogan DG, Donaldson DD, Kuwabara T, Marshall D (1964) Microcystic dystrophy of the corneal epithelium. Trans Am Ophthalmol Soc 62:213–225

    Google Scholar 

  4. Cordes FC, Hogan MJ (1939) Ocular ichthyosis. Report of a case. Arch Ophthalmol (Chicago) 22:590–594

    Google Scholar 

  5. Dark AJ (1978) Cogan's microcystic dystrophy of the cornea: ultrastructure and photomicroscopy. Br J Ophthalmol 62:821–830

    Google Scholar 

  6. Duke-Elder S (1965) System of ophthalmology, vol VIII. Mosby, St Louis, pp 524–527

    Google Scholar 

  7. Fiore C, Regamey-Steiger E (1975) Dystrophie prédescemétique de la cornée dans un cas d'ichthyose congénitale. Arch Ophthal (Paris) 35:961–964

    Google Scholar 

  8. Franceschetti A, Thier CJ (1961) Über Hornhautdystrophien bei Genodermatosen unter besonderer Berücksichtigung der Palmoplantarkeratosen. Graefe's Arch Clin Exp Ophthalmol 162: 610–670

    Google Scholar 

  9. Gedde-Dahl T Jr (1987) The human gene map and genes expressed in the skin. In: Hönigsmann H (ed) Current problems dermatol, vol 16. Karger, Basel, pp 45–64

    Google Scholar 

  10. Gedde-Dahl T Jr, Anton-Lamprecht I (1983) Epidermolysis bullosa. In: Emery AEH, Rimoin DL (eds) The principles and practice of medical genetics. Churchill Livingstone, Edinburgh, pp 672–687

    Google Scholar 

  11. Grala PE (1985) Corneal changes in X-linked ichthyosis. J Am Optom Assoc 56:315–317

    Google Scholar 

  12. Granek H, Baden HP (1980) Corneal involvement in epidermolysis bullosa simplex. Arch Ophthalmol 98:469–472

    Google Scholar 

  13. Hay E (1980) Development of the vertebrate cornea. Int Rev Cytol 63:263–322

    Google Scholar 

  14. Jay B, Blach RK, Wells RS (1968) Ocular manifestations of ichthyosis. Br J Ophthalmol 52:217–226

    Google Scholar 

  15. Kenyon KR (1978) Recurrent corneal erosion: pathogenesis and therapy. Int Ophthalmol Clin 19:169–195

    Google Scholar 

  16. Meyer JCh, Gilardi S (1986) Biochemische Diagnose der X-chromosomalen Ichthyose. Hautarzt 37:205–209

    Google Scholar 

  17. Peracchia C, Mittler BS (1972) Fixation by means of glutaraldehyde-hydrogen peroxide reaction products. J Cell Biol 53:234–238

    Google Scholar 

  18. Tripathi RC, Bron AJ (1973) Cystic disorders of the corneal epithelium. Br J Ophthalmol 57:376–390

    Google Scholar 

  19. Voigtländer V, Anton-Lamprecht I, Schnyder UW (1979) Ichthyosen. In: Korting GW (ed) Dermatologie in Praxis und Klinik, vol II. Spezielle Dermatologie. Thieme, Stuttgart, pp 21.1–21.17

    Google Scholar 

  20. Whitmore PV (1978) Skin and mucous membrane disorders. In: Duane TD (ed) Clinical ophthalmology, vol 5. Harper & Row, New York San Francisco London

    Google Scholar 

  21. Wood TO (1984) Recurrent erosion. Trans Am Ophthalmol Soc 82:850–898

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Universitäts-Augenklinik, Abteilung I, Eberhard-Karls-Universität, Schleichstrasse 12, D-7400, Tübingen 1, Federal Republic of Germany

    K. P. Steuhl & H. -J. Thiel

  2. Institut für Ultrastrukturforschung der Haut, Universitäts-Hautklinik, Ruprecht-Karls-Universität Heidelberg, D-6900, Heidelberg, Federal Republic of Germany

    I. Anton-Lamprecht & M. -L. Arnold

Authors
  1. K. P. Steuhl
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I. Anton-Lamprecht
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. -L. Arnold
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. H. -J. Thiel
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Steuhl, K.P., Anton-Lamprecht, I., Arnold, M.L. et al. Recurrent bilateral corneal erosions due to an association of epidermolysis bullosa simplex Köbner and X-linked ichthyosis with steroid sulfatase deficiency. Graefe's Arch Clin Exp Ophthalmol 226, 216–223 (1988). https://doi.org/10.1007/BF02181184

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02181184

Keywords

Search

Navigation