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

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

Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

Thyroid issues can cause alopecia areata.

Defective protein folding due to a mutation is key in ANE syndrome.

A specific gene mutation causes sparse, brittle hair in a family.

The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.

Four patients with a type of rickets and hair loss had different mutations in their vitamin D receptor gene, causing it to not work properly.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

Keratin mutations may cause scarring alopecia by damaging hair structure.

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

FTase and GGTase-I are essential for skin keratinocyte health.

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

A specific gene mutation causes vitamin D-resistant rickets and hair loss.

A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.

Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.

A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.

Mutations in the KRT16 gene can cause skin and nail disorders.

New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.

A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.

African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.