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The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.

Cinacalcet may help treat hereditary vitamin D resistant rickets safely.

A strict gluten-free diet can improve liver issues in celiac disease.

Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.

Patients with this syndrome can have different responses and worsening resistance to treatment over time.

Steroid sulfatase inhibitors could potentially treat hormone-related disorders like certain cancers, hair loss, acne, and improve cognitive dysfunction.

A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.

Tranilast successfully treated a man's skin sarcoidosis when other treatments failed.

A 6-year-old boy with autism improved his thyroid function and growth after addressing iodine deficiency caused by picky eating, but his psychiatric symptoms and picky eating continued.

Antiviral medication valganciclovir may improve skin and hair in Trichodysplasia Spinulosa patients.

Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.

HSD11b1 affects skin nerves and increases non-histaminergic itch.

Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.

Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

Monitor for early signs of azathioprine toxicity and check blood counts regularly.

Anti-epileptic drugs may cause visual and hair side effects due to enzyme inhibition, especially in genetically predisposed individuals.

Tacrolimus and corticosteroids can improve symptoms of Satoyoshi syndrome.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Specific keratin gene mutations can cause monilethrix.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

Antituberculous drugs improved symptoms in a woman with lupus and myositis.

A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.