Poikiloderma Congenital: An Early Case of Rothmund-Thomson Syndrome

    Kristensen Jk
    TLDR Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
    A case of congenital poikiloderma, specifically Rothmund-Thomson's type, was presented, characterized primarily by skin changes and hair loss, with only minor additional abnormalities. The patient exhibited a slightly elevated concentration of lysine and cystine in their urine.
    Discuss this study in the Community →

    Related Community Posts Join

    0 / 0 results
    — no results

    Similar Research

    5 / 109 results
      Diseases of Periocular Hair

      research Diseases of Periocular Hair

      7 citations , July 2011 in “Survey of Ophthalmology”
      The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
      Male Fertility and Skin Diseases

      research Male Fertility and Skin Diseases

      12 citations , June 2016 in “Reviews in Endocrine and Metabolic Disorders”
      Some skin diseases and their treatments can negatively affect male fertility.
      Madarosis: A Marker of Many Maladies

      research Madarosis: A Marker of Many Maladies

      36 citations , January 2012 in “International Journal of Trichology”
      Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
      Index

      research Index

      September 2019
      The document is a detailed guide on skin conditions and treatments for dermatologists.