Corneal Keloid In Kosaki Overgrowth Syndrome: Report Of A New Association

Corneal keloids are very rare lesions, with fewer than 100 cases described in the medical literature. These lesions are characterized by a pathological healing response in the context of an insult to the corneal structure, giving rise to an excess of fibrous tissue and the stromal accumulation of disorganized collagen fibrils. These lesions have been associated with a number of congenital conditions. It is the purpose of this work to present a new association, the Kosaki overgrowth syndrome.

Department of Ophthalmology, Hospital Universitario Donostia

A 10-year-old male was referred to the cornea unit at our hospital in the context of a slow-growing whitish lesion in the corneal periphery. The patient in question did not comment on any ophthalmological history. In order to proceed with the differential diagnosis of the lesion, anterior segment optical coherence tomography (AS-OCT) was performed. AS-OCT revealed a subepithelial lesion reaching the posterior stroma, associated to a hypertrophic epithelium and the absence of Bowman's layer. We decided to observe the lesion, reporting its growth on successive visits affecting the visual axis. The characteristics of the AS-OCT together with the progression of the lesion suggested the diagnosis of corneal keloid. Lamellar keratectomy (LK)  and amniotic membrane transplantation (AMT) were performed , after which the lesion recurred. The anatomopathological analysis confirmed the diagnosis of corneal keloid. The patient's phenotype (tall stature, pectus excavatum, proptosis, hypertelorism and claw toes) oriented the case to genetic testing, which revealed the presence of Kosaki overgrowth syndrome. A multidisciplinary approach was adopted and systemic Imatinib was started. A second procedure combining LK and AMT was performed and to this day the corneal lesion remains stable.

Kosaki overgrowth syndrome may be associated with the development of corneal keloids. To our knowledge, this is the first communication describing this new
association. A combination of systemic theraphy (Imatinib) and local procedures achieved control of the corneal keloid.