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Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.

Lower MC2R expression may contribute to alopecia areata.

Specific keratin gene mutations can cause monilethrix.

Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.

Some children with methylmalonic and propionic acidaemias have skin problems related to their condition and diet.

Mutations in the KRT85 gene cause hair and nail problems.

A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.

SRD5A1 is crucial in advanced prostate cancer, and blocking both SRD5A1 and SRD5A2 is more effective than targeting SRD5A2 alone.

Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.

Four genes are potential markers for hair loss condition alopecia areata, linked to a specific type of cell death.

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.

A specific gene mutation causes a severe skin disorder in a family.

Intralesional cidofovir may be a viable treatment for conjunctival lesions in Melkersson-Rosenthal syndrome without systemic toxicity.

A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.

A new mouse mutation causes skin and hair defects due to a gene change.

Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.

Consider rare forms of CAH for accurate diagnosis and treatment.

SRD5A2 gene variations affect PTSD symptoms differently in males and females.

Patients with alopecia areata have lower RBC folate levels, especially in severe cases.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

Starting 5-alpha reductase inhibitors does not significantly increase the risk of rhabdomyolysis in older men, but is linked to a higher risk of muscle conditions.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

Monilethrix is linked to a gene cluster on chromosome 12.

A new mutation in the KRT86 gene causes a hair disorder with variable expression.