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A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.

PCS rats show significant inner ear damage and zinc deficiency, similar to liver cirrhosis patients.

Three siblings with a genetic form of rickets showed different symptoms of the disease.

Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.

Zinc deficiency was the real cause of the boy's symptoms, not a skin infection.

A gene variant causes a skin and hair disorder by disrupting protein balance.

A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.

A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.

Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.

Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.

People with Telogen Effluvium often lack vitamin D, ferritin, and zinc.

A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.

Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.

Using cidofovir cream for a rare skin disease can cause skin darkening.

Azithromycin can rarely cause a severe drop in white blood cells.

Copper deficiency is linked to post-COVID-19 hair loss in women.

Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.

Low BMI and cold exposure increase the risk of chilblains.

Recognizing and treating skin symptoms in essential thrombocythemia is crucial for patient quality of life.

Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.

Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.

A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.