A Scandinavian Case of Skin Fragility, Alopecia, and Cardiomyopathy Caused by DSP Mutations

    December 2013 in “ Clinical and experimental dermatology ”
    Anders Vahlquist, Marie Virtanen, Maritta Hellström-Pigg, Anca Dragomir, Kristina Ryberg, Neil Wilson, Ingegerd Östman‐Smith, Lu Liu, John A. McGrath, Frances Smith
    TLDR A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
    The document reports on a child born with congenital skin fragility, alopecia, thick nails, and hyperkeratosis, who was later found to have a deficiency of desmoplakin due to compound heterozygous mutations in the DSP gene. This gene is crucial for cellular cohesion in epithelial and cardiac tissues and is located on chromosome 6p24. The child also developed signs of left ventricular cardiomyopathy, indicating the extracutaneous involvement that is characteristic of ectodermal dysplasia caused by DSP mutations. This case highlights the importance of considering rare genetic syndromes in the differential diagnosis of neonatal skin blistering.
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