Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family

    August 2023 in “ Acta Scientific Paediatrics ”
    Gayatri Nerakh, Sireesha, S. P., Mohini Annapurna Korlimarla, Ashwin Dalal
    Image of study
    TLDR A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
    A neonate from an Indian family presented with a rare genetic disorder, Localized Hypotrichosis Type 1, characterized by the absence of scalp and body hair and ichthyosis of the skin at birth. At 1 year old, the ichthyosis improved with treatment, but there was no hair growth. Whole exome sequencing identified a pathogenic deletion in the DSG4 gene, specifically exons 5-8, confirming the diagnosis. This case is notable as previous reports of this condition have been from the Middle East, with no cases reported in individuals of Indian descent prior to this.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 139 results

      community [AMA] 5-Month Progress Report: Dutasteride and Oral Minoxidil Results.

      in Minoxidil  73 upvotes 3 years ago
      Naepo's 5-month progress report detailing their journey of treating male pattern baldness with dutasteride and oral minoxidil, which has already resulted in an encouraging improvement in hair density. Others have responded with appreciation for the thorough report and asked further questions about Naepo's educational background.

      community 1 month Pyrilutamide. A non responders story to everything.

      in Research/Science  218 upvotes 2 years ago
      My hairline, I am only 23. This conversation is about a user's experience with treatments for androgenic alopecia, including finasteride, dutasteride, RU, minoxidil, progesterone, melatonin, LLLT, oral minoxidil, and Pyrilutamide. They have tried many treatments over the course of two years without seeing much success, and they are considering getting a hair system as a last resort.

      community Medications that cause extra hair growth

      in Research/Science  123 upvotes 1 year ago
      The post discusses the side effects of various drugs causing excess hair growth, questioning why only minoxidil is used in the hair loss industry. The conversation includes users sharing their experiences and concerns about potential side effects of these drugs, with some preferring baldness over potential health risks.

    Similar Research

    5 / 1000+ results