Anmeldung zur Tagung
Registration
Grußwort
Invitation
Themen
Topics
Allgemeiner Ablauf
General overview
Wissenschaftliches Programm
Scientific program
Kurse
Courses
Symposien
Symposiums
Frühstück mit Spezialisten
Breakfast with specialists
Arzthelferinnen-Fortbildung
Rahmenprogramm
Social program
DOG Information
DOG Information
Allgemeine Informationen
General Information
Autorenindex
Index of Authors
Ausstellerliste
Exhibitors
Sponsoren
Sponsors
Teilnahmegebühren
Registration fees
Impressum
Recurrent corneal erosion syndrome and predescemet dystrophy in a case of X-linked ichtyosis
Rudolf M., Grösch S., Geerling G.
Universitätsaugenklinik Lübeck, Ratzeburger Allee 160, 23538 Lübeck
Background: Recurrent corneal erosions have been described in
xchromosomal recessive ichthyosis associated with epidermolysis bullosa.
A mechanical pathway due to keratinisation of lid margin and skin has
been suggested to cause the epithelial defects. We report a case of isolated
xlinked recessive ichthyosis associated with recurrent corneal erosions
and predescemets dystrophy, but no lid alterations.
Methods: The specific findings of slitlamp microscopy, cutaneous
punch biopsy and quantification of leukocytic arylsulfatase C-activity
are presented.
Results: A 21 year old male caucasian suffered from bilateral recurrent
erosions since the age of 10. Slitlamp microscopy revealed bilateral punctate
opacifications at the predescemetic level. This was not associated with
any visual limitations. While diffuse areas of dry, scaly skin were found
at the forehead and forearm the eyelids were normal. This was diagnosed
as an x-linked recessive form of ichthyosis. Histology of a cutaneous
punch biopsy taken from the arm showed only unspecific changes of ichtyosis.
Quantification of leukocytic Arylsulfatase C-activity was significantly
reduced (40,1 pmol µU/mg) and confirmed the clinical diagnoses.
The recurrent corneal erosions in both eyes were treated by means of manual
epithelial debridement and phototherapeutic Excimer Laser keratectomy
(PTK). PTK had to be repeated 18 months later in the left eye due to persistent
symptoms. No recurrences occurred in the right (left) eye for the last
6 (4) years.
Conclusion: To the best of our knowledge this is the first case
of isolated x-chromosomal recessive ichthyosis associated with recurrent
erosions. The absence of any alterations of the lid margins and skin in
this case suggests that a deficient complex of basement membrane and epithelial
anchorage filaments rather than abrading keratin causes the epithelial
defect. Predescements dystrophy and a reduced arylsulfatase C-activity
help to confirm the diagnoses and PTK can be used for symptomatic relief.