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Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

A 4-year-old girl has a rare hair condition causing fragile, short hair.

Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.

Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.

A mutation in the KRTHB5 gene causes hair and nail issues.

Two siblings have a rare genetic condition causing curly, coarse hair.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.

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

A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.

Uncombable hair syndrome is linked to Zellweger syndrome.

Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.

RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.

Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.

GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.

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

Hair-Thread Tourniquet Syndrome is a rare condition where hair or thread tightly wraps around a child's body part, requiring quick treatment to prevent damage.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.

A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.

Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.

A hair strand caused a rare case of limb strangulation in a teenage girl with autism, and the condition is not always linked to child abuse.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.

A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.

Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.

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