Figure 1
Case Presentation
A 16-year-old female presents to her family physician with a one-year history of skin changes to both palms. She describes these as transient in nature, appearing after she washes her hands, does the dishes, or takes a bath. Examination reveals pitted white papules and marked wrinkling of her palms, five minutes after her hands are immersed in water. Which of the following genetic disorders is this patient’s presentation associated with? Image credit: @Mc93.
Options
- Spinal muscular atrophy
- Cystic fibrosis
- Canavan disease
- Tay-Sachs disease
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