A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters

    September 2012 in “ Annals of saudi medicine/Annals of Saudi medicine ”
    Burcu Karaca
    TLDR The twins' condition is unique and doesn't match any known syndromes.
    The document described a case report of 21-year-old dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and hyperchromic macrocytic anemia. Despite being initially considered for Rud syndrome, the diagnosis was ruled out due to genetic heterogeneity and differences from the original description. The twins exhibited delayed psychomotor development, mild alopecia, and thickened, hyperkeratotic palms and soles. Their condition did not match other known syndromes such as Refsum disease, Sjögren-Larsson syndrome, or several ichthyosis-related syndromes. The report concluded that the twins' condition appeared distinct from any previously recognized syndromes.
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