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A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.

Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.

Scientists created cell lines to study a genetic skin disorder using CRISPR technology.

The type of tumor suppressor affects the form of skin cancer from hair follicle stem cells.

Antiviral drugs, especially daclatasvir, may be a new treatment for a rare skin disease, improving survival and reducing symptoms in mice.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

Mutant stem cells adapt their metabolism differently to outcompete normal cells in the skin.

Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.

The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.

Vδ1+ T-cells in the skin contribute to hair loss in alopecia areata and could be targeted for treatment.

Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.

Gorab deficiency speeds up skin aging by disrupting protein regulation and reducing collagen.

The virus linked to a rare disease was found in a patient's blood and urine before skin symptoms appeared.

A genetic mutation linked to longer life and less disease was found in the Amish, and a drug is being developed to replicate these benefits.

A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.

Cantú syndrome is caused by mutations in the ABCC9 gene.

A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.

HPV8 causes skin cancer by expanding specific skin stem cells.

Certain genetic variants in keratins increase the risk of tooth decay.

Genetic mutation and carcinogen treatment are both needed for skin cancer to develop in these specific mice.

Keratin 10 end domains may increase skin cancer risk by reducing cell death.

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

Seven new genetic risk areas for prostate cancer were found.

PRSS35 enzyme may help start skin tumors and could be a target for cancer treatment.

Longer TA repeats in the SRD5A2 gene may increase acne risk in Chinese people.

ATP-sensitive K+ channel subunits, particularly Sur2A, play a significant role in various cancers.