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A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Astrotactin-2 is cleaved in a specific way that helps understand its maturation.

Cantú syndrome is caused by mutations in the ABCC9 gene.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

CENPV, a new partner of CYLD, helps regulate ciliary acetylated tubulin and is overexpressed in certain skin tumors.

A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.

A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.

Transglutaminase does not modify human hair.

Cathepsin L is essential for heart health and its absence causes heart problems and hair loss.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A unique enzyme in guinea pig hair follicles helps form protein cross-links in hair.

A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.

A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.

Cathepsin L is essential for normal hair growth and development.

Skin tumors with CYLD cutaneous syndrome show more NF-κB activity and less organized collagen.

A specific chemical change in the S100A3 protein leads to the formation of a four-part structure important for hair formation.

Keratinocytes help manage skin nitrogen metabolism, varying by age and skin area.

The HtrA1L364P mutation causes brain dysfunction and blood vessel damage.

Mice with CBS deficiency are healthier on a low-methionine diet.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

N-acetylcysteine may help treat trichotillomania.

Agalsidase alfa helps treat Fabry's disease but needs more research for long-term benefits.

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

MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.

Cysteine formation on hair indicates damage, best detected at pH 4.5.

TGase 3 helps build hair structure by forming strong bonds between proteins.

Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.

CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.