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Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.

A 17-year-old with Netherton syndrome has dry, itchy skin, brittle hair, and high IgE levels, treated with antihistamines and emollients.

Some families have a genetic condition where they are born with irregular scalp defects.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

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

New mutations in hair keratin genes cause the rare hair disorder monilethrix.

A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.

A rare skin growth in a baby was successfully removed without coming back.

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

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

An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.

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

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

Specific keratin gene mutations can cause monilethrix.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Symmetrical Acrokeratoderma (SAK) may be a unique skin condition in China, lacking specific treatment and needing long-term monitoring.

Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.

A 16-year-old boy's arm hair grew more after wearing a splint, but it returned to normal in 8 months.

Loose Anagen Hair syndrome occurs in dark-skinned children and often improves on its own.

A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.

A specific gene mutation causes different hair defects in Indian monilethrix families.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.