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
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    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.
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