Child with multiple skin cancers

Abstract

An 8-year-old boy has had a chronic, nonpruritic skin condition since infancy (Fig 4). At age 3, he experienced severe sunburn after sun exposure for approximately 20 minutes. There had been intense erythema and subsequent desquamation. He has had normal development both mentally and physically for his age. He has had 6 basal cell carcinomas removed from sun-exposed areas.4.The most likely diagnosis is (Choose single best response.)a.basal cell nevus syndromeb.Cockayne syndromec.ataxia-telangiectasia syndromed.xeroderma pigmentosume.Bloom's syndrome5.Which of the following statements is true of patients with the above syndrome? (Choose single best response.)a.These patients usually have defective DNA excision repair but may demonstrate normal RNA excision repair.b.Patients with the above syndrome usually have defective RNA excision repair but may demonstrate normal DNA excision repair.c.Patients with this disorder have cellular hypersensitivity to X-irradiation.d.The inheritance pattern is X-linked recessive.e.These patients have associated dental and nail defects as well as juvenile cataracts.6.Which of the following statements is true of patients with the above syndrome? (Choose single best response.)a.About 20% of patients develop internal malignancies.b.About 20% of patients have decreased hearing and diminished reflexes.c.No extracutaneous abnormalities have been reported in this syndrome.d.Patients can repair the major genome but not the transcribed genes.e.Patients are often characterized as having dwarfism, and bird-like facies.7.One of the most critical interventions for these patients is (Choose single best response.)a.prevention of seizuresb.sunblocks and avoidance of all forms of lightc.sunblocks and avoidance of ultraviolet lightd.retinoid therapy as chemoprotectione.cochlear impants