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A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.

Consider amyloidosis in patients with specific nail changes and check for systemic issues.

New hair spray caused a hair shaft disorder.

CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.

A genetic defect in an Appenzeller Mountain Dog caused skin issues, improved with ketoconazole, showing the importance of advanced genetic testing.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

A 90-year-old man was diagnosed with heart failure due to wild-type transthyretin cardiac amyloidosis.

A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

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

A person with Werner syndrome was initially thought to just have female pattern hair loss.

Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.

ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.

A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

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

Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.

Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.

Monilethrix is linked to a gene cluster on chromosome 12.

A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.

Two children with lysinuric protein intolerance showed symptoms similar to lupus.

A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.

There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

An 8-year-old girl had nail and hair issues that improved without specific treatment, but fungal nail infection was hard to cure.

A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.

A man developed a unique rash on his neck after taking niacinamide, and doctors recommend considering niacinamide as a cause for similar rashes and using dermatoscopy for diagnosis.

Neuromyotonia and morphoea can occur together in the same body areas.

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