A Case of Encephalocraniocutaneous Lipomatosis

    August 2002 in “ British journal of ophthalmology
    H B Chittenden, K. E. Harman, Fred Byron Robinson, Elisabeth M. Higgins
    TLDR The document reports a rare case of ECCL with a new association with optic disc colobomas.
    The document describes a case of encephalocraniocutaneous lipomatosis (ECCL), a rare condition, in a 23-year-old Asian man who initially presented at age 16 with ocular abnormalities. The patient exhibited limbal dermoids, subcutaneous lipomas, scalp alopecia, cranial and facial asymmetry, intracranial lipomas, calcification, an arachnoid cyst, and bilateral optic disc colobomas—a finding not previously associated with ECCL. Despite the presence of these symptoms, surgery was not performed at the initial presentation, and no follow-up was arranged until the patient returned to the clinic at age 20. The case adds to the understanding of ECCL by reporting an association with optic disc colobomas.
    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 6 months 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  1019 upvotes 3 months 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 Nearly a year of fin and no progress

      in Update  37 upvotes 7 months ago
      The user has been using finasteride, minoxidil, and other treatments for nearly a year without progress in hair regrowth, feeling frustrated and depressed. Suggestions include trying dutasteride, considering a scalp biopsy, and acknowledging that stopping hair loss might be the only achievable outcome.

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

      in Treatment  97 upvotes 1 year 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 1 year daily dut progress 0.5mg

      in Progress Pictures  43 upvotes 2 weeks ago
      The user has been using 0.5mg daily dutasteride for a year without seeing progress and previously used oral finasteride and topical minoxidil. They are considering a hair transplant and discussing various treatments like scalp massages, derma rolling, and different medication dosages.

    Similar Research

    6 / 1000+ results