Xeroderma Pigmentosum: A Bane in developing country – Brief report

Hari Kishan Kumar Yadalla,Syeda Juwariya

doi:10.7241/ourd.20144.71

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing, and the development of various cutaneous and internal malignancies at an early age. We present this case of a 10 yearold girl in a developing country like India, with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Developmental delay had been present since 3 months of age, with these clinical features it was consistent with Xeroderma Pigmentosum. We highlight the difficulties encountered due to the lack of diagnostic and treatment modalities for this child, and offer a brief review of XP, including emerging treatments.

Highlights

Xeroderma pigmentosum is a rare, genetically heterogeneous, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing, and the development of various cutaneous and internal malignancies at an early age
The skin lesions are comprised of freckles on limbs and face with a dry skin covered with a mixture of mottled, hypopigmented and hyperpigmented, atrophic rounded and oval macules, giving the entire skin a checkered appearance associated with a generalized actinic keratoses, manifesting on black skin as palpable, rough, blackish spots covered with adherent scales [2,4]
From an early age patients are sensitive to even minimal sun exposure developing erythema, vesicles and oedema

Summary

Introduction

Introduction Xeroderma pigmentosum is a rare, genetically heterogeneous, autosomal recessive disorder characterized by photosensitivity, cutaneous pigmentary changes, premature skin ageing, and the development of various cutaneous and internal malignancies at an early age. These skin lesions cover both the sun exposed and covered areas. The patient, in our case report, presented with characteristic atrophic, freckled and lentigo skin changes, subnormal intelligence with developmental delay and blurred vision along with the highlighting aspect of delay in medical diagnosis and appropriate treatment.

Results

Conclusion