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A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

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

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

Early diagnosis and treatment are crucial for complex medical conditions.

Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.

New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.

High-dose dutasteride reduces PMDD symptoms by stabilizing neurosteroid levels.

Microfollicles can effectively model human hair follicles for research and testing.

Men use cosmetic surgery to feel and look better, often influenced by traditional masculinity ideals.

Men who strongly follow traditional masculinity are more likely to have cosmetic surgery to feel powerful and successful.

KID syndrome should be reclassified as an ectodermal dysplasia.

People with Down syndrome have a higher risk of autoimmune diseases, so early detection and care are important.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

A baby with KID syndrome died from infections and organ failure at 18 months old.

A new mutation in the K6b gene caused a girl's late-appearing nail condition.

The RAS pathway affects hair growth differently in CFCS and CS.