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Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.

A rare case showed basal cell carcinoma and leiomyosarcoma coexisting, needing careful diagnosis and treatment.

Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Overexpressing GLI-1 in mice skin can cause tumors like human basal cell carcinomas.

A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

Oral contraceptive use may increase the risk of frontal fibrosing alopecia in women with a specific CYP1B1 gene variant.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.

Personalized treatment based on detailed tumor analysis successfully managed and reduced the patient's aggressive hair follicle cancer.

Skin biopsy is crucial for diagnosing unknown baldness causes.

A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.

Activated ras can protect kidney cells from a certain substance that causes cell death.

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.

MAD2B slows down the growth of skin cells that are important for hair development by interacting with TCF4.

Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.

A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.

BMP signaling helps prevent skin tumors by blocking cancer-promoting pathways.

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

Matriptase is crucial for skin barrier, hair growth, and may contribute to skin cancer.

KRTAP2-3 could help predict cancer recurrence by identifying specific cancer cells.

An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.

A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.

Some cases of short anagen hair syndrome are linked to specific genetic variations that are also connected to male pattern baldness.

Studying premature aging syndromes helps understand human aging and suggests potential treatments.