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Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Early diagnosis of hair tourniquet syndrome saved a baby's toe from being lost.

Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.

Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.

Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.

Acne keloidalis nuchae is a hair loss condition affecting men of African descent, causing scar-like bumps on the scalp and neck.

If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.