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Ruxolitinib helped a patient with alopecia areata regrow hair.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Ruxolitinib helped a woman with a genetic mutation regrow her hair and improved her health.

A PIK3CA mutation in Schwann cells causes severe nerve damage and increased glycolysis, but early treatment can help.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

A specific gene mutation causes a severe skin disorder in a family.

A new gene mutation causes insulin resistance in a girl and her mother.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.

New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.

A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.

Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.

A specific mutation known for causing cancer is also found to cause a skin condition in a young girl.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

Specific keratin gene mutations can cause monilethrix.

Genetic screening can help diagnose and manage infertility in Slovenian couples.

A boy's hair turned red because of genetic mutations, not lack of zinc.

Cathepsin L deficiency causes hair and skin issues in mice.

Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.

Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.

Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.

FoxN1 overexpression in young mice harms immune cell and skin development.

Basal cell carcinomas need extra mutations to grow from small to large tumors.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Smoking reduces antioxidants and causes DNA damage in hair follicles.