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Facial cutaneous abnormalities of "collodion baby" due to perinatal Gaucher disease type 2

The infant’s epidermal detachment ("collodion baby") is characteristic of perinatal Gaucher disease type 2. (Source: Sugiura T, Fujiwara A, Yo T, et al. Gaucher disease carrier with gestational thrombocytopenia and anemia: a case report. J Med Case Rep 2022;16[1]:203. Creative Commons Attribution 4.0 International License, http://creativecommons.org/licenses/by/4.0.)

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Associated Disorders

  • Anemia
  • Leukopenia
  • Seizures
  • Strabismus