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Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.

Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.

Elderly patients have more severe hidradenitis suppurativa and may need different treatments.

Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.

The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.

A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.

A 4-year-old girl had a rare hair disorder affecting only part of her scalp.

Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.

The Hedgehog Signaling Pathway is important for skin and hair development and skin cancer treatment, but more research is needed to understand it fully.

A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.

New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.

TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.

GTL1 is needed to control root hair growth and prevent problems when there are too many nutrients.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

A gene variant increases the risk of a type of hair loss by affecting hair protein production.

Two genetic variations in Moa buffalo help them adapt to heat.

Variation in the TCHH gene affects wool curliness in sheep.

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.

The main enzyme found in pubic skin that could be targeted to treat excessive hair growth is 5 alpha-R2.

Targeting impaired Nrf2 signaling might help treat hidradenitis suppurativa early on.

Stress in hair follicle stem cells causes inflammation in a chronic skin condition through a specific immune response pathway.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

The document concludes that the human keratin gene cluster is complex, with a need for updated naming to reflect over 50 functional genes important for hair and skin biology.

K6hf is a unique protein found only in a specific layer of hair follicles.

Young HS patients often have other physical and mental health issues, and research on HS covers a wide range of topics including genetics, triggers, treatments, and the need for more data.

Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.

Sickle cell disease affects BMI and pain frequency, with HbSS patients having more pain and unhealthy BMI.

High glycine–tyrosine keratin-associated proteins help make hair strong and maintain its shape.