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Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.

Different gene mutations cause different types of ichthyosis, with some new mutations found.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

A new therapy for a skin blistering condition has not been developed yet.

Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

Zinc supplements improved the girl's skin and hair condition.

A rare EGFR mutation in newborns leads to severe health issues and early death.

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

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.

A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

Combining ciclosporin and simvastatin can cause severe kidney damage.

Trichothiodystrophy can be linked to urologic issues and high calcium in urine.

The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.

Some people have a genetic variation that makes them less effective at breaking down drugs.

Genetic testing for EGFR mutations is crucial in similar cases.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.

Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.

A litter of cats had a hair condition similar to a mouse mutation, leading to hair loss and abnormal hair and skin.

Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.

Selenium deficiency can cause skin and hair color loss, muscle weakness, and blood cell changes, but these improve with selenium supplements.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

Brindled mice show abnormal catecholamine neuron development due to copper deficiency.

A 56-year-old man was diagnosed with Cronkhite-Canada Syndrome after showing symptoms like diarrhea, weight loss, and skin changes.