DR. SREE SWETA RAMAVATH

DR. SREE SWETA RAMAVATH, DR. SUNDAR RAM NAIK RAMAVATH

Abstract

Xeroderma Pigmentosum(XP) is a rare autosomal recessive disorder that occurs due to inherited molecular defects in nucleotide excision repair genes .Gene frequency in the general population is reported to be 1 in 200 million.A 10 year old female child presented to the OPD with lentigines and complaints of defective vision in both eyes since 6years.VA was CFCF in both eyes .O/E conjunctiva- melanosis ,cornea -severe xerosis with bilateral opacification, vascularisation present. Severe dry eye on tear film tests present.Her 4year old sister had developed the same skin lesions but there was no ocular involvement yet.H/O consanguity present.XP is characterized by photo-hypersensitivity of sun-exposed tissues & several thousand-fold increase in the risk of developing malignant neoplasms of the skin and eye.The malignant potential of XP is the most serious aspect of this condition like OSSN, limbal squamous cell CA,basal cell CA of lids.Early diagnosis and follow up is very important for XP.