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Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.

Wnt/β-catenin signaling is important for keeping skin cell attachment structures stable.

Significant progress was made in understanding PXE, but effective treatments are still needed.

The distal radius evolved to adapt and function despite potential fractures.

The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.

A pregnant woman with Werner's syndrome died during childbirth, but her baby survived and did not have the syndrome.

A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.

A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.