Xeroderma pigmentosum
An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
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Top doctors who continously share their opinions on Xeroderma pigmentosumSuper Specialist in Reproductive Endocrinology
Distt. Red Cross Society Bhawan
Honorary Medical Officer
SPMC, Bikaner
MBBS
ESIS Dispensary Patrapali
Insurance MedicalOfficer
Pt J N M Medical College Raipur
MBBS
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