FP726 : “Searching beyond Nevi” -Rare case of neurcutaneous ocular syndrome

Dr.Pooja Kulkarni, P21541

Case-2 year old boy came with a progressively growing mass in left eye since birth.An epibulbar subconjunctival cystic mass approaching superior limbus with cutaneous findings of multiple hyper pigmented verroucous lesions on face,neck,scapula over Blaschko’s lines. Alopecia over temporal scalp with variegated surface. MRI-increased axial length,smaller lens,calcified posterior coats of eyeball,pre septal hamartoma,hemangioma in frontotemporal region. Ipsilateral arachnoid cyst . EEG was normal Excision biopsy of epibulbar mass reported Angiofibromatous hamartoma. Diagnosed as Epidermal nevus syndrome Background-135 cases of this syndrome have been reported worldwide. Signs-epidermal nevi ,epibulbar lesion,arachnoid cyst in brain with calcified eye ball coats,skeletal anomalies. FGF 23 is responsible for this mutation.This case had additional cystic vascular malformation near globe.Conclusion-Calcification of eyeball coats can cause blindness.Reporting this would add to literature.