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Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.

Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.

A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.

CCCA can affect both genders and all ages, and it has a genetic component.

Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.

Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.

TGM3 is important for skin and hair structure and may help diagnose cancer.

Disrupting the Flcn gene in mice causes early kidney cysts and tumors, which can be treated with rapamycin.

Collagen is crucial for health and treating certain diseases, and supplements can improve skin, nails, and hair conditions.

A rare genetic mutation caused unusual skin symptoms in a man with Blau syndrome.

Eruptive vellus hair cysts are often missed in diagnoses.

Oral minoxidil and growth factors improved hair density and thickness in a girl with hereditary hair loss.

Minoxidil, originally a blood pressure medication, is effective in treating hair loss in men and women, with different strengths recommended for each.

Vitamin D and its receptor may help prevent skin cancer.

Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.

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

Vitamin D is important for skin health and can help treat psoriasis, atopic dermatitis, and vitiligo.

The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.

Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.

A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.

Ayurveda can help treat premature hair graying with lifestyle changes and herbal remedies.

A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.

Finasteride caused blisters on hands and feet.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Isotretinoin can raise CPK levels, so patients need monitoring, especially before surgery.

Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.

The EDAR gene mutation leads to thinner and more deformed hair shafts.

A 4-year-old girl was diagnosed with erythrokeratodermia variabilis after other treatments failed.