A 19 Month Old Male Child with Xeroderma Pigmentosum-A Case Report

Abstract

Background: Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by pigmentary abnormalities, solar skin damage and cutaneous malignancies on sun exposed area of skin and eyes. XP occurs in subjects with molecular defects in the genes involved in nucleotide excision repair (NER) of ultraviolet-induced DNA lesions leading to premature skin and ocular ageing consequent upon cellular apoptosis and other UV-induced degenerative changes. If sufficient DNA damage occurs, there will be cellular transformation and the development of malignancies. Both genetic, as well as environmental factor, play an important role in XP. XP has a >1000-fold increased risk of a cutaneous basal cell or squamous cell carcinoma or malignant melanoma. Case history: In this case report, we mentioned about a 19 month old boy who was diagnosed clinically as a case of Xeroderma Pigmentosum and presented with pigmentary skin changes (generalized hypo and hyper pigmented macule), eye problems, developmental delay, acute respiratory infection and failure to thrive. A multidisciplinary team involving the Pediatrician, Dermatologist and Ophthalmologist evaluated, diagnosed and treated the patient. In this case, XP was diagnosed clinically due to lack of all investigation facilities. This genetic premalignant condition is rarely diagnosed at the district level hospitals in Bangladesh. We report this case to upgrade the knowledge of pediatricians working in the rural areas (primary and secondary level health care facilities) regarding the diagnosis, counseling, treatment modalities and appropriate referral for Xeroderma Pigmentosum. Recommended management should be focused on educating the patient and the parents about effective sun protection and early recognition of cancers. Genetic counseling should be offered for families at risk