Groenouw Dystrophy Of A Case Of Epidermolysis Bullosa: A Rare Case Report

Published 2024 - 42nd Congress of the ESCRS

Reference: PO192 | Type: Case Report | DOI: 10.82333/eb0x-4g92

Authors: Youness Bouhafra* ¹ , boutaina bousellam ² , yasmine bennani ¹ , hibat allah eddaoui ¹ , salma sefiani ¹ , mounir boufellousen ¹ , rim bennani kamane ¹ , mohamed amine bencherif ¹ , aniss regragui ¹ , nabiha benchekroun ¹ , mohamed benharbit ¹ , mohamed belmekki ¹

¹ophtalmology center,Cheikh Zaid hospital,Rabat,Morocco, ²ophtalmologie center,Cheikh Zaid hospital,Rabat,Morocco

Purpose

Epidermolysis bullosa (EB) is a term referring to a group of conditions associated with abnormalities in the basement membrane zone of the skin and mucous membranes. It is most commonly genetic and congenital origin, although acquired forms exist. There are several genetic subtypes: dystrophic (autosomal recessive and autosomal dominant), junctional, and simplex.

Ocular involvement, whether conjunctival or corneal, is possible and may manifest at times as punctate keratitis corneal abrasion, pannus or scarring, and so rarely as corneal dystrophy.

Setting

This is a case study of a patient with epidermolysis bullosa with bilateral corneal dystrophy (groenouw type II) followed at the Ophthalmology Center of the Cheikh Zaid Hospital in Rabat.

Report of case

We present the case of a 33-year-old female, born of consanguineous marriage, diagnosed at birth with congenital epidermolysis bullosa. She has a history of corneal graft in her right eye for Groenow's dystrophy in 2003, and a reported bilateral corneal dystrophy in one of her brothers. She currently presents a decrease of visual acuity in her left eye.

Clinical examination reveals corrected visual acuity of 8/10 (1.25 mn) in the grafted right eye and count fingers in the left eye, with a normal intraocular pressure.

Slit-lamp examination reveals Groenow's dystrophy with white-grayish opacities and boundaries poorly defined at the center of the cornea in the left eye, occupying the entire thickness of the stroma, respecting a pre-limbic zone, while the examination of the right eye shows a clear graft without other particularities.

Anterior segment Optical Coherence Tomography (AS-OCT)shows corneal thickening with a minimum pachymetry of 482 um; the deposits give a poorly defined stromal hyperreflectivity with an irregular and wavy stromal surface.

The use of surgical treatment is rare, but sometimes possible, especially if there is corneal damage like that of our patient who underwent a Deep Anterior Lamellar Keratoplasty (DALK) without Postoperative Complicationsm of DALK.

Conclusion/Take home message

Ocular involvement is common in Epidermolysis bullosa, but the incidence of structural ocular involvement varies considerably among patients and between different subtypes. the interest of our case is that we must not neglect corneal damage in patients with epidermolysis bullosa.

In the largest series of patients published until now in the United States, ocular complications were observed in 26% within 204 Epidermolysis bullosa patients. However, groenouw dystrophy during this pathology remains rare, and no study until now has shown a similar case.

Ocular complications, once developed, can be managed through various surgical approaches depending on their severity.