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  • Title: Ocular surface findings in Hallopeau-Siemens subtype of dystrophic epidermolysis bullosa: report of a case and literature review.
    Author: Matsumoto Y, Dogru M, Tsubota K.
    Journal: Cornea; 2005 May; 24(4):474-9. PubMed ID: 15829808.
    Abstract:
    PURPOSE: This article describes the clinical features and long-term changes in corneal sensitivity, tear function, and impression cytology findings in a patient with recessive dystrophic epidermolysis bullosa (DEB). METHODS: The patient underwent best-corrected Landolt visual acuity measurements, slit-lamp examinations, anterior segment photography, Schirmer test with anesthesia, tear film break-up time, corneal fluorescein and Rose-Bengal staining, assessment of corneal sensitivity, and conjunctival impression cytology at the initial and final visits. RESULTS: The patient had a recurrent corneal erosion in the right eye and a painful corneal blister with extensive superficial punctuate keratopathy in the left eye, which remained refractory to treatment with patching, lubricants, and antibiotic ointments for 10 weeks. The corneal disease in both eyes responded swiftly to topical fibronectin, topical nonpreserved tears, vitamin A ointment, and therapeutic soft contact lenses. Maintenance treatment was continued with preservative-free topical tear drops and vitamin A ointment. Corneal disease did not recur in the patient during the follow-up of 29 months. The mean corneal sensitivity and tear film break-up time were decreased initially in both eyes and attained normal values with treatment. Impression cytology revealed squamous metaplasia, loss of cellular cohesion, and total absence of goblet cells before treatment, all of which were observed to be normalized at the final follow-up. CONCLUSIONS: The ocular surface disease in DEB was characterized by low corneal sensitivity, disorder of tear quality, decreased cellular cohesion, squamous metaplasia of the conjunctiva, and goblet cell loss. Close follow-up for ocular complications in DEB is essential and a pathophysiology-oriented approach to the epithelial disease may not only provide rapid healing but might prevent recurrences as well.
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