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Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.

A new drug, abrocitinib, helped a child with severe hair loss regrow hair.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Selenium therapy improved health in cystic fibrosis patients with fewer side effects at a lower dose.

Genetic differences affect breast cancer treatment success with tamoxifen in South African patients.

Higher uric acid levels are linked to fewer urinary symptoms in healthy Korean men.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.

Cysteines in wool fibers are accessible and form important disulfide bonds.

Patients with one autoimmune disease should be checked for other autoimmune disorders.

Hair amino acid levels can indicate metabolic disorders.

Early detection and aggressive treatment of severe lung complications in lupus are crucial to improve survival.

CYP2B12 enzyme in skin cells converts arachidonic acid into specific bioactive lipids.

A genetic marker linked to a type of hair loss was found in most patients studied.

Syphilitic alopecia is a rare hair loss condition in secondary syphilis that looks similar to another condition but can be diagnosed with specific tests and responds to antibiotics.

SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.

Biotinidase deficiency has various symptoms and can be treated with biotin supplements.

A certain medication improved severe itching in a boy with liver and bowel disease by reducing histamine levels, suggesting a new treatment target.

The boy's symptoms suggest a possible new medical condition.

Deferasirox effectively reduces iron overload in ß-thalassemia patients but may cause some manageable side effects.

An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.

SLHA can be hard to diagnose and needs teamwork between specialists.

CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.

Dutasteride, usually used for prostate issues and hair loss, could potentially treat Amyotrophic Lateral Sclerosis (ALS) due to its neuroprotective, antioxidant, and anti-inflammatory properties, but more testing is needed.

Mutations in the LIPH gene cause woolly hair in a child.

A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.