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A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.

Genetic testing confirmed a rare disorder causing hair loss and vision problems in a Saudi family, stressing its importance for diagnosis and counseling.

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

Lack of functional CYLD in mice leads to early aging and cancer.

A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.

Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.

There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.

A new mutation in the KRT86 gene causes monilethrix in a Han family.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

BMP-2 activates the Dlx3 gene in mouse skin cells, important for hair and skin development.

ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.

Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.

NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.

A new one-step test can quickly identify skin cancer during surgery.

The trichohyalin gene is located at chromosomal region 1q21 with other skin-related protein genes.

A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.

The prototype for analyzing skin aging works technically and clinically.

Higher HDAC1 levels in alopecia areata suggest HDAC inhibitors might help treat it and acne.

Newborn screening for biotinidase deficiency is effective in preventing severe complications.

The protein FLCN is involved in cellular cleanup and is regulated by ULK1.

Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.

RCS-01 therapy is safe and may improve skin structure by affecting gene expression.

A mutation in the VDR gene affects hair cycling without needing ligand binding.

CD1d expression in scalp skin and hair follicles changes with the hair cycle and may help protect against microbes.

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.

A specific DNA region controls skin cell gene expression by working with certain proteins.

7DHC and BM15766 damage hair follicle structure and reduce key gene expression.

Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.

Two genetic disorders affect biotin metabolism, causing severe skin, hair, and metabolic issues.