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The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.

TYK2 inhibition may help treat alopecia areata by promoting hair growth and reducing immune response.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

A hidden autoimmune syndrome was found during a shock, showing thyroid, adrenal, and ovarian issues.

Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.

Early diagnosis and proper treatment improve outcomes for methylmalonic acidemia.

CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.

A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.

TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.

Naked-mouse hair lacks certain proteins and has less soluble fibril.

Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.

A 2-year-old girl had a hair disorder not shared by her identical twin.

Musashi-2 limits epithelial cell movement and affects cell growth.

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

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Aging and chronic diseases impair muscle repair, but integrated therapies like exercise and gene editing may help.

A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.

Monilethrix is a genetic hair disorder causing fragile, beaded hair with no effective treatment.

A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.

Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.

Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.

Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.

Cats with abnormal hair had DSG4 gene changes causing hair problems.