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Dermatology

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Genodermatoses

Question
11 out of 14
 

Cells cultured from patients with this disorder exhibit low activity for the nucleotide excision repair process. This autosomal recessive genetic disease includes marked sensitivity to sunlight, ultraviolet light, with subsequent formation of multiple skin cancer and premature death, the disorder is:



A Acute intermittent porphyria

B Xeroderma pigmentosa

C Ataxia telangiectasia

D Alkaptonuria

Ans. B
Xeroderma pigmentosa is rare; progressive, autosomal recessive, degenerative disease. It is characterized by severe photosensitivity which develops in the 1 st years of life. Disease is manifested by rapid onset of erythema, bullae, pigmented macules, hypochromic spots, and telangiectasia. Skin becomes atrophic, dry, and wrinkled. A variety of benign and malignant growth appear early in life.

Genodermatoses Flashcard List

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