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.

Disease Alternative Name

xeroderma of kaposi

kaposi dermatosis

atrophoderma pigmentosum

melanosis lenticularis progressiva

pigmented epitheliomatosis

xeroderma pigmentosum syndrome

kaposi disease

angioma pigmentosum atrophicum

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Dr. Neelkanth Potdar

Pathology

22 F Biopsy of maculonodular lesion from eyelid . Known case of xeroderma pigmentosum. History of melanoma 2 yrs.back. ...See More

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Samarth Goyal

MBBS Student

Which of the following syndrome is not commonly associated with basal cell carcinoma? 1)gorlin syndrome 2)xeroserma pigementosum 3)bazex syndrome 4)Cowden syndrome

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