A Rare Case of Cardiocutaneous Syndrome in a Young Child

    June 2023 in “ British journal of dermatology/British journal of dermatology, Supplement ”
    S. Marini, Ru Katugampola
    Image of study
    TLDR A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
    A 19-month-old child presented with symptoms including focal keratoderma on palms and soles, dystrophic pachyonychia, scalp alopecia with sparse curly hair, periodontitis, early tooth decay, and notched incisor teeth. Genetic testing revealed a mutation in the DSP gene, which encodes desmosomes, linking the child's symptoms to a group of disorders associated with desmoplakin mutations. Although initially asymptomatic, by age 7, the child developed conduction abnormalities and was diagnosed with dilated cardiomyopathy, leading to a diagnosis of cardiocutaneous syndrome. This case highlights the diagnostic challenges of concurrent dermatological and oral conditions and underscores the importance of recognizing these signs as potential indicators of underlying cardiac disease.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 1000+ results

      community I think I’ve finally found the reason for my hair loss

      in Chat  98 upvotes 1 year ago
      The user experienced hair loss since 2019 and tried finasteride, dutasteride, RU58841, and ketoconazole shampoo without success. A scalp biopsy showed scarring and inflammation from folliculitis, indicating chronic inflammation was affecting treatment effectiveness.

      community 5-Months Update: Minoxidil + Red Light Therapy + Lifestyle Changes

      in Progress Pictures  1031 upvotes 1 year ago
      The user reported positive hair regrowth after 5 months using Minoxidil, red light therapy, and lifestyle changes, including dietary improvements and stress reduction. They chose natural supplements like saw palmetto and beta-sitosterol over pharmaceutical DHT inhibitors like finasteride.

      community I’ve read multiple times that Fin increases hair quality… NOT for me!

      in Treatment  97 upvotes 2 years ago
      A user has been on finasteride for 6 months and feels their hair quality has worsened, experiencing more hair loss and scalp irritation. They are considering seeing a dermatologist, while others suggest the issue might be unrelated to finasteride, possibly due to deficiencies or other conditions.

      community My skin is always dry and flakes like chalk (25)

      in Transgender  6 upvotes 1 year ago
      The user underwent a biopsy two years ago and was diagnosed with keratosis pilaris, leading to hair issues. They tried treatments including Minoxidil, betamethasone, lymecycline, topical Accutane, and dutasteride, as well as diet changes, without improvement in hair thickness or skin dryness.

      community Scalp Biopsy Results - Almost 2 Years Dutasteride, Still Worsening

      in Update  24 upvotes 6 months ago
      Dutasteride and finasteride are not effectively stopping hair loss for some users, despite long-term use. Some are considering or using RU58841, pyrilutamide, and other treatments like microneedling, while also managing seborrheic dermatitis with diet and topical solutions.

    Similar Research

    5 / 1000+ results