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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

The research linked PLCD1 gene variants to the development of trichilemmal cysts.

Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.

Women with congenital adrenal hyperplasia (CAH) have more sexual function issues than those with polycystic ovary syndrome (PCOS), but physical activity can improve sexual functioning in all women.

FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.

Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.

Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.

Deuruxolitinib is approved to treat severe alopecia areata in adults.

A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.

Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.

Tofacitinib effectively treated a woman's complex autoimmune and autoinflammatory disorders.

A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.

A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.

A young woman with skin issues and weight loss improved after treating her pancreatitis and using skin treatments.

Taiwan reported its first case of a rare scalp condition with no clear cause or treatment.

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

Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.

The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.

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

Higher antigliadin antibody levels are linked to alopecia areata severity.

Blocking glucocorticoid receptors improves glucose metabolism in a PCOS mouse model.

Applying linoleic acid to the skin fixed essential fatty acid deficiency symptoms.

Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.

Human adrenals and gonads have a unique enzyme for steroid hormone production.

Zinc deficiency can cause skin issues like hair loss and eczema.

The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.

The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.

CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.

A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.