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A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.

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

One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.

Screening for iron levels in patients with hair loss may help find a genetic iron overload condition early.

Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.

People with certain hair disorders may also have missing permanent teeth.

A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Certain HLA class II alleles increase or decrease the risk of alopecia areata.

PCOS is likely inherited in families, increasing risk for first-degree relatives.

The conclusion is that Darier-White disease was accurately described by White but he missed the key feature of dyskeratotic cells which Darier identified.

The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.

A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.

Hairy elbows may be linked to short stature, but the exact cause is unclear.

A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.

A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.

Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.

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

Down Syndrome patients with Alopecia Areata often have hypothyroidism and specific immune abnormalities.

Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.

A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.

The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.

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

Two cows had a rare hair disorder causing hair loss but were otherwise healthy.

A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.

A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.