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Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

Mutations in specific genes cause different types of ectodermal dysplasias.

Monilethrix causes fragile, patchy hair loss.

Improved oral hygiene and dietary changes can help manage black hairy tongue syndrome.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

New genetic variants linked to albinism were found in Pakistani families.

Cocaine use can cause a blistering skin disease.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

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

Studying rare genetic disorders can help us understand and treat common diseases better.

Certain factors like being female, having high cholesterol, using Medicaid, and previous non-biologic treatments increase the risk of multiple biologic failures in psoriasis patients.

A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.

Genetic defects in the Wnt/PCP pathway may cause congenital yellow nail syndrome.

Biotin supplements restored hair and resolved symptoms in a woman with biotin deficiency.

A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

Lupus can cause unusual vision problems, so it's important to consider it in such cases.

A thorough, team-based approach and clear communication improve outcomes in complex neuropsychiatric lupus cases.

A brain injury can lead to compulsive hair-pulling and psychosis-like symptoms, needing comprehensive treatment.

Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.

A young man developed a rare, bilateral scalp condition after head trauma, causing hair loss but no neurological or eye issues.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

A new gene mutation causes a rare type of hair loss.

Lack of cystatin M/E causes thin hair and dry skin.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.

Higher RBP4 levels are linked to severe alopecia areata, but genetic variant rs3758539 doesn't affect baricitinib response.

Early treatment with corticosteroids improved her eye condition significantly.

A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.