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An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.

Syntaxin 9 helps in transporting and signaling of the EGF receptor in skin and stomach cells.

Arsenic poisoning can be caused by both criminal acts and certain medical treatments.

Early diagnosis and aggressive treatment of lupus nephritis can prevent kidney damage and improve outcomes.

Polyamines, especially spermidine, are essential for hair growth.

A patient with advanced kidney cancer and no hepatitis C developed skin inflammation due to a drug called interferon alpha-2a.

JAK inhibitors may help improve symptoms in adults with APECED.

Efficient enzyme function relies on specific residue interactions and structural coordination.

An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.

Vitamin D Dependent Rickets Type-2A can cause complete hair loss and bone growth issues in infants.

Topical putrescine and spermine increased DNA synthesis in hairless mouse skin.

A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.

A CCS patient with severe complications was successfully treated using combined therapies.

A baby with KID syndrome died from infections and organ failure at 18 months old.

Enzyme purified and characterized for minoxidil sulphation in rat liver.

A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

Zinc supplements can help skin issues even if blood zinc levels are normal.

Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.

Rhupus is a complex syndrome that combines rheumatoid arthritis and lupus, making diagnosis challenging.

Germ-free rats need biotin for growth and have different vitamin metabolism compared to regular rats.

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

IV cyclophosphamide effectively treated severe lupus nephritis in Indian patients, but longer follow-up is needed.

Certain medications can cause serious side effects, so it's important to report them.

A woman with lupus had blood cell destruction, treated successfully with medication.

Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.

Men with X-linked recessive ichthyosis may not experience typical male-pattern baldness.