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Cat Eye Syndrome with a Unique Liver and Dermatological Presentation
Maureen Mansur1, Thomas J Jacob2, Helen Wong2
1Family Medicine, Nassau University Medical Center, New York, USA.
Cureus
|May 8, 2023
Summary
Cat eye syndrome (CES), a genetic disorder, can present with unusual skin issues like atopic dermatitis. Early diagnosis and multidisciplinary care are crucial for managing CES complications effectively.
Area of Science:
- Genetics
- Dermatology
- Hepatology
Background:
- Cat eye syndrome (CES), or Schmid-Fraccaro syndrome, is a genetic disorder with variable phenotypes including ocular coloboma, anal atresia, and heart defects.
- A 23-year-old male with a milder CES presentation experienced pruritus and rashes, alongside mild liver dysfunction.
Keywords:
atopic dermatitisautoimmune hepatitiscat eye syndromechatgptlivedo racemosaprimary biliary sclerosispsoriasisschmid-fraccaro syndrome
