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An infant with Hutchinson-Gilford Progeria Syndrome had successful surgery to fix breathing issues caused by a new genetic mutation.

Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.

Targeting the p63 gene could help treat skin diseases.

A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.

HPV does not cause aggressive cancer in RDEB patients.

Skin cells and immune cells change in a skin condition called hidradenitis suppurativa, and a certain treatment can improve these changes.

A specific gene change in APCDD1 increases the risk of hair loss.

Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.

A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.

Myotonic dystrophy may be classified as a segmental progeroid disorder.

Netherton's disease causes multiple hair defects.

A patient with a rare disease had a unique genetic mutation linked to their symptoms.

Krtap11-1 is important for hair strength and structure.

Accurate diagnosis of facial skin tumors requires detailed analysis to distinguish between benign and malignant types.

Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.

Laminin-511 may contribute to psoriasis by affecting skin cell growth and survival.

Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.

Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.

New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.

Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.

ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Inhibiting AP-1 changes skin tumor types and affects tumor cell identity.

Three dogs with a rare skin condition improved with treatment.

New genetic variants linked to albinism were found in Pakistani families.