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The NUDT15 R139C variant causes thiopurine-induced leukocytopenia through a different mechanism than previously thought in Japanese patients with inflammatory bowel disease.

New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.

A rare gene variant causes sexual development issues in siblings, needing personalized treatment.

A mutation in the KRT82 gene is significantly associated with Alopecia Areata.

PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.

A specific gene mutation causes complete hair loss without other health issues.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

SSAT is a key enzyme affecting cell growth and metabolism, with potential but risky use in disease treatment.

Zinc supplements effectively treat acrodermatitis enteropathica.

Cantú syndrome may be linked to pituitary adenomas.

Certain gene variations and low adiponectin levels may increase the risk of hair loss in Egyptians.

The Swedish neonatal screening program effectively detects PKU, galactosaemia, and biotinidase deficiency with low false positives.

Arginine converts to citrulline in hair follicles as proteins harden.

Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.

Netherton's disease causes multiple hair defects.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

Arginine deficiency hinders hair growth in androgenetic alopecia, but restoring it can promote hair regeneration.

A woman with lupus also developed a severe skin condition linked to a genetic factor.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.