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A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.

hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.

Skin issues from chronic graft-versus-host disease greatly affect daily life, needing teamwork between blood and skin doctors.

The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.

A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.

Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.

Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.

Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.

Hedgehog signaling controls hair follicle development and can affect skin cancer growth.

A woman's hair loss and other symptoms were due to a rare hormone deficiency treatable with steroids.

Cardiovascular disease deaths decreased but still caused one-third of U.S. deaths in 2007, with high rates of hypertension, smoking, obesity, and diabetes.

ELIP-based CRISPR delivery improves heart disease gene editing but needs more testing.

Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.

The Chinese version of the PCOS quality of life questionnaire is reliable and valid for Chinese-speaking women with PCOS.

The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.

Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.

Women with congenital adrenal hyperplasia have lower fertility, but with proper treatment, they can conceive successfully.

Diagonal earlobe and preauricular creases may indicate higher coronary artery disease risk in men.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.

KID syndrome should be reclassified as an ectodermal dysplasia.

Targeting cholesterol, fatty acids, fibrosis, and mast cells may help treat CCCA.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.

Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.

A woman with a long-term skin condition developed a serious skin cancer that led to her death.

An 80-year-old woman with Cronkhite-Canada syndrome had multiple polyps and symptoms like diarrhea, hair loss, nail issues, and dark skin.