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The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.

Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.

Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.

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

Lack of cystatin M/E causes thin hair and dry skin.

UVB exposure increases appetite by activating p53 in skin cells.

A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.

ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.

Consider NF1 in newborns with rare congenital anomalies.

PAON shows skin patterns due to genetic mosaicism.

A new sheep gene, KRTAP36-1, may help breed sheep with better wool by reducing prickle factor.

Mutations in the CYP21A2 gene are not a major factor in causing PCOS.

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

A new gene mutation linked to a skin condition was found in a Spanish family.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.

A mutation in the KRT25 gene causes woolly hair and hair loss.

A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.

A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.

A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.

Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.

The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.

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

The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.

Mutations in keratin genes cause skin disorders, but new treatments show promise.

A specific gene mutation causes woolly hair and hair loss.

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

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.

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

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.