Assessment of Albinism: Video, Anatomy, Definition & Function | Osmosis

Question

A 7-year-old boy is brought to the pediatrician by his mother for evaluation of multiple prior episodes of sunburn. According to his mother, the patient gets more easily sunburned and has a lighter skin tone as compared with his siblings. The patient’s family immigrated to the United States 2 years ago, and they previously had limited access to healthcare. Temperature is 37.2°C (99.0°F), blood pressure is 97/68 mmHg, and pulse is 77/min. He is at the 50th percentile for height and weight. Physical examination reveals diffuse milky-white hair and skin. Laboratory testing reveals the following findings:

Laboratory Value	Result
Hemoglobin	15.6 g/dL
Hematocrit	47%
Leukocytes	7,200/mm3
Platelets	190,000/mm3

Genetic testing reveals reduced tyrosinase activity. Which of the following conditions is the patient at greatest risk of developing?

Accepted Answer

&#160;Reduced visual acuity&#160;

Answer

Recurrent Staphylococcal infections

Answer

Intellectual disability&#160;

Answer

Early onset arthritis

Answer

Peripheral neuropathy

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Albinism

Pathology

Integumentary system

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Albinism

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Albinism

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AssessmentsAlbinism

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Albinism

USMLE® Step 1 style questions USMLE

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Albinism