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

A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.

Diphenyl cresyl phosphate has low toxicity but can harm the liver, kidneys, adrenal glands, and testicles at high doses.

Cronkhite-Canada Syndrome often leads to death within 6-18 months.

Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

Pazopanib treatment caused rapid hair color loss, possibly indicating its effectiveness.

Applying a specific inhibitor lightens skin and hair color.

A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.

The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.

The document concludes that a high-protein, low-carb diet can lead to significant weight loss but requires caution and further research.

PP-PTKL may help treat hair greying, but more testing is needed.

A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.

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

Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.

Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.

LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Protein kinase C epsilon may increase skin cancer risk by affecting nearby cells.

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

A specific gene mutation causes woolly hair and hair loss.

Keratosis pilaris is often linked to genetic mutations and causes skin and hair abnormalities, regardless of those mutations.