Corneal Keloid In Kosaki Overgrowth Syndrome. Report Of A Novel Association And Positive Therapeutic Response To Imatinib.

Ophthalmology Unit, Hospital Universitario Donostia. Donostia-San Sebastián, Spain.

a 10-year-old male patient got referred to our tertiary-center cornea unit in the context of a corneal injury refractory to treatment in the right eye. Past therapies included topical antibiotics and corticosteroids. Anterior segment biomicroscopy revealed a well-defined, elevated, white lesion at the temporal corneal periphery with no signs of evident inflammation. Anterior segment optical coherence tomography showed a nodular hyperreflective subepithelial lesion reaching posterior stroma, with associated hypertrophic epithelium and Bowman's membrane absence. After size progression of the corneal disturbance and visual acuity deterioration, we decided to adopt therapeutic strategies, performing focal superficial lamellar keratectomy (SLK) covering the residual stromal bed with amniotic membrane transplantation (AMT). Surgical specimen was sent for histopathological examination, confirming the keloid nature of the lesion. Although initial surgical result was satisfactory, recurrence of the lesion outgrowing its initial boundaries was observed. The peculiar phenotype of the patient (coarse facies, tall stature and hyperelastic skin) oriented the case to genetic testing, making the diagnosis of KOGS. Further tests revealed neurological alterations. After multidisciplinary assessment, systemic imatinib was started, and three months later a second SLK with AMT was attempted, achieving a successful surgical result and clinical stability over the last 6 years.

we report a novel association for corneal keloid: KOGS. Moreover, the corneal keloid was the first manifestation of a systemic disorder. Systemic therapy with tyrosine kinase inhibitors (Imatinib) in combination with SLK and AMT was an effective therapeutic strategy for our patient, representing a promising therapy in the future management of these lesions.