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A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

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.

Vitamin A supplements improved skin and health issues in dogs.

The LMNA mutation affects skin structure even in asymptomatic carriers.

5α reductase type 2 enzyme mutation and oxidative stress may increase androgenetic alopecia risk in Egyptians.

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.

Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.

Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.

New genetic variants linked to albinism were found in Pakistani families.

Albumin and prednisone improved symptoms in a woman with Cronkhite-Canada syndrome, revealing potential genetic causes.

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

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

Patients with hair pigment loss and hair loss may have altered pantothenic acid metabolism.

Introducing the OTC gene improved symptoms in mice with OTC deficiency.

Ceramide synthase 4 deficiency in mice leads to hair loss due to altered sebum lipids.

Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.

Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.

Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.

A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.

Mitochondrial stress can lead to atopic dermatitis.

A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.

MOF controls key genes for skin development by regulating mitochondrial and ciliary functions.

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.

Trace element deficiencies may contribute to diffuse alopecia.

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.

Biotin mega-dose therapy led to dramatic improvement in a newborn with a rare metabolic disorder.

New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.

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