Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: A Case Report

    March 2016 in “ Serbian Journal of Dermatology and Venerology ”
    Jana Kazandjieva, Elisaveta Stefanova, Zdravka Todorova, Malena Nikolova Gergovska, Kristina Semkova
    TLDR A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
    This case report described a six-year-old boy with congenital generalized hypertrichosis terminalis, a rare condition characterized by excessive growth of pigmented terminal hair, gingival hyperplasia, and a coarse face. The boy, born to non-consanguineous parents, also had congenital hydronephrosis and a heterozygous deletion on chromosome 17q12. Despite normal intellectual development, he exhibited shyness and dependency on his mother. Laboratory tests showed normal results, and a right-sided nephrectomy was performed due to severe hydronephrosis. The report highlighted the need for regular follow-ups with endocrinologists and nephrologists due to potential risks of diabetes mellitus and renal issues. Laser hair removal was initiated and proved effective. The study suggested a possible genetic link involving chromosome 17q but noted that a specific molecular abnormality had not been identified.
    Discuss this study in the Community →

    Research cited in this study

    2 / 2 results

    Related Community Posts Join

    6 / 24 results
      If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      community If You Have DUPA, PLEASE READ THIS: Everyone Should Be Scalp Biopsied

      in Research  830 upvotes 1 year ago
      Scalp biopsies are crucial for diagnosing hair loss conditions like Diffuse Unpatterned Alopecia (DUPA) and retrograde hair loss, as treatments like finasteride and dutasteride may not be effective if other conditions are present. Combining PPAR-GAMMA agonists with retinoids could improve treatments for conditions like Lichen Planopilaris.

      community Another transplant or SMP? (Not balding)

      in Transplants  27 upvotes 3 days ago
      The user is considering another hair transplant or scalp micropigmentation (SMP) for a congenital bald spot, but previous transplants were less effective due to scar tissue. Suggestions include using hair fibers, changing hairstyles, or doing nothing, as the spot is not very noticeable.

      community Is this Better Than Topical Minoxidil? Topical Diazoxide

      in Research/Science  6 upvotes 9 months ago
      Topical diazoxide may be a promising hair regrowth treatment, especially for those who don't respond to minoxidil, as it activates potassium channels without needing sulfation. It appears safe for topical use, avoiding systemic effects seen in oral use.

      community 31M. Just diagnosed with androgenic alopecia. Fears of min.

      in Finasteride/Dutasteride  12 upvotes 3 months ago
      A 31-year-old man with androgenic alopecia is considering treatments like finasteride, minoxidil, and ketoconazole shampoo but is worried about finasteride's side effects. Users recommend starting with finasteride or dutasteride for DHT blocking, suggesting topical solutions to reduce side effects.

    Related Research

    2 / 2 results