Xeroderma pigmentosum complicated by keratoacanthoma in a Kashmiri girl

Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. It manifests clinically as intense cutaneous photosensitivity, acute burning under minimal sun exposure, erythema, xe...

Full description

Saved in:
Bibliographic Details
Main Authors: Yasmeen J Bhat (Author), Peerzada Sajad (Author), Najmu Saqib (Author), Iffat Hassan (Author), Roohi Wani (Author)
Format: Book
Published: Wolters Kluwer Medknow Publications, 2018-01-01T00:00:00Z.
Subjects:
Online Access:Connect to this object online.
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. It manifests clinically as intense cutaneous photosensitivity, acute burning under minimal sun exposure, erythema, xerosis, poikiloderma, actinic keratosis, lentigines, and development of malignant lesions like basal cell carcinoma, squamous cell carcinoma, and melanoma in sun-exposed areas. We hereby report a case of xeroderma pigmentosum complicated by keratoacanthoma in a 9-year-old ethnic Kashmiri girl who had history of photosensitivity, dry skin, and pigmentary changes from the age of 2 years.
Item Description:2349-5847
2349-5782
10.4103/Pigmentinternational.Pigmentinternational_5_18