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Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.

A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.

A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.

A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.

Hair follicles significantly increase the speed and amount of caffeine absorbed through the skin.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Researchers found a new mutation in the LIPH gene of a woman with a rare hair condition.

A genetic variant in the KRT25 gene causes tightly curled hair.

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

A 2-year-old girl had a hair disorder not shared by her identical twin.

Waldenstrom’s Macroglobulinaemia can mimic multiple myeloma, so accurate diagnosis is crucial.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

Two new gene mutations cause a rare hair disorder.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.

HLD10 can include increased body hair and Mongolian spots.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

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

Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.

Hair examination helps diagnose rare neurological diseases in children.

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

Danon disease can be hard to diagnose due to non-specific symptoms.

A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.