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

    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.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

      community DHT Harms Scalp Microbiome: DHT Itch is REAL

      in Research/Science  411 upvotes 5 months ago
      Increased Malassezia and Cutibacterium in the scalp microbiome are linked to higher sebum production and inflammation in androgenetic alopecia (AGA). Treatments include ciclopirox shampoo, benzoyl peroxide shampoo, clobetasol propionate, calcipotriol, minoxidil, finasteride, and dutasteride.

      community M23 , on finaestride and minoxidil for 4.8 months

      in Progress Pictures 2 years ago
      . This conversation is about a user's progress while using minoxidil and finasteride to treat hair loss, with emphasis on taking oral finasteride at night before bed for optimal results. They also discuss the brand of medication being used (Morr F 5%) and the importance of taking a generic version of the same drug.

      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 3 weeks 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.

    Similar Research

    5 / 1000+ results