Marie Unna Hereditary Hypotrichosis: A Turkish Family with Loss of Eyebrows and a U2HR Mutation

    September 2010 in “ American Journal of Medical Genetics - Part A ”
    Ayşe Tülin Mansur, Nursel Elçioğlu, Silke Redler, Zehra Aşiran Serdar, Şule Çetınel, Regina C. Betz, Nurten Akarsu
    Image of study
    TLDR A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
    The document detailed a study on a Turkish family with eight members diagnosed with Marie Unna hereditary hypotrichosis (MUHH), a condition marked by sparse hair, which worsens around puberty. The study confirmed a c.2T > C mutation in the U2HR gene, an area previously identified as a mutation hot spot, in all affected individuals. This mutation is in the 5'-untranslated region of the HR gene and has been found in other affected families worldwide. Clinical observations showed significant variation among individuals, with eyebrow loss being a key diagnostic feature. The study suggested that MUHH hair loss may result from changes in hair shaft structure, hair cycle alterations, and a decrease in functioning hair follicles, with the HR protein playing a crucial role in hair follicle cycling and hormonal changes possibly influencing the condition's progression.
    Discuss this study in the Community →

    Research cited in this study

    2 / 2 results

    Related Community Posts Join

    6 / 30 results

      community My FUE Hair Transplant Journey

       14 upvotes 8 years ago
      A user shares their experience with an FUE hair transplant performed by Dr. Mario Marzola, detailing the procedure, costs, and post-operation care. They report feeling slightly nauseous but satisfied with the results and plan to provide daily updates.

      community 31 M progress pics from finasteride

      in Progress Pictures  11 upvotes 2 years ago
      A 31-year-old male shared his 3-year progress using finasteride 1 mg daily, with additional treatments including nutrafol, multivitamins, vitamin D, marine collagen, PRP scalp injections, micro-needling, and Nizoral. He experienced temporary libido issues but currently has no side effects.

      community Wimpole Clinic 1850 grafts (23yo) Dr Malkani

      in Progress Pictures  123 upvotes 3 months ago
      A user shared their positive experience with a hair transplant at Wimpole Clinic, performed by Dr. Malkani, and discussed using finasteride at a reduced dose due to side effects. They also mentioned avoiding minoxidil due to heart pain and taking supplements like biotin, marine collagen, viviscal, and krill oil.
      [object Object]

      community Injecting stomach fat into the scalp could cure baldness in just six months

      in Update  114 upvotes 6 years ago
      A potential treatment for hair loss that involves injecting fat into the scalp; the role of testosterone and estrogen in thinning fat tissue under the skin; research on using lard to treat androgenic alopecia, as well as PRP + ACELL/amniotic stem cell treatments; and ongoing clinical trials by doctors involved in the study.

      community Best Shampoos/Hair Styling Products for Thinning Hair (Male)

       9 upvotes 8 years ago
      A user is seeking advice on shampoos and hair styling products to slow down hair thinning and avoid harmful chemicals. They currently use a biotin and collagen shampoo and are considering alternatives like wax or oils instead of gel.

    Related Research

    5 / 5 results