The Urine as a Diagnostic Key for a Homozygous EGFR Mutation

    March 2022 in “ Portuguese Journal of Nephrology & Hypertension ”
    Mafalda Casinhas Santos, Margarida Almendra, Sofia Bota, Helena Ramos, Telma Francisco
    TLDR A rare EGFR mutation in newborns leads to severe health issues and early death.
    The document described two case reports of female preterm newborns from consanguineous Roma parents, who presented with alopecia, erythroderma/ichthyosis, and nephromegaly. Both developed severe health issues, including hypomagnesaemia, electrolyte disturbances, recurrent sepsis, and failure to thrive. Exome sequencing revealed a rare homozygous mutation in the epidermal growth factor receptor. Despite optimized medical care, both patients had a poor prognosis and died before their first birthday. The study aimed to contribute to the understanding and management of this rare genetic condition.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

      community Alopecia Areata Question

      in Treatment  2 upvotes 4 years ago
      A user with alopecia totalis, borderline universalis, seeks advice on getting into a Xeljanz trial or appealing insurance for coverage. They experienced significant hair regrowth but are now seeing hair loss again and want to try Xeljanz.

      community 29M alopecia or normal hair fall but something worked. Just wanted to share.

      in Update  3 upvotes 2 months ago
      A 29-year-old male experienced hair loss and found improvement using a combination of onion hair oil, castor oil, ketoconazole shampoo, and aloe vera gel with vitamin E, while discontinuing minoxidil and finasteride due to side effects. He emphasizes the importance of scalp massage and oiling for hair growth and reduced hair fall.

      community mbp alopecia areata or vitamin deficiency

      in Chat 1 year ago
      A 19-year-old male has been using topical finasteride and minoxidil for 8 months with no progress and is considering seeking a second opinion due to potential misdiagnosis. The discussion revolves around whether the hair loss is due to male pattern baldness, alopecia areata, or a vitamin deficiency.

      community Androgenic alopecia exclusively on the vertex of the scalp

      in Chat  6 upvotes 1 year ago
      A user experienced androgenic alopecia starting at the vertex without frontal hairline recession and is seeking information on this pattern. Another user noted that vertex or diffuse hair loss is common among men.

    Similar Research

    5 / 1000+ results
      Index

      research Index

      September 2019
      The document is a detailed guide on skin conditions and treatments for dermatologists.
      Current Genetics in Hair Diseases

      research Current Genetics in Hair Diseases

      1 citations , February 2013 in “InTech eBooks”
      Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
      Index

      research Index

      November 2019 in “Harper's Textbook of Pediatric Dermatology”
      The document is a detailed medical reference on skin and genetic disorders.