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

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.

A new classification for trichothiodystrophy helps identify genetic causes and potential treatments.

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

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

A gene variant causes a skin and hair disorder by disrupting protein balance.

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

Not having enough cystatin M/E protein causes less hair growth and dry skin.

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.

A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.

Generalized trichoepitheliomas with hair loss may indicate myasthenia gravis.

A new DSG4 gene mutation causes hair defects in a young girl.

A gene mutation causes woolly hair in a Syrian patient.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

Thymoma may link myasthenia gravis, nail dystrophy, and alopecia areata.

Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.

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

A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.

A woman with a rare type of dermatomyositis improved with low-dose prednisone and methotrexate.

The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.

Identical twins with a rare KRT 86 gene mutation both have the hair disorder monilethrix.

A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.

Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.

Early diagnosis and treatment of TPP can prevent complications.

A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.