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Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.

New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.

Lack of cystatin M/E causes thin hair and dry skin.

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

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

Children with classic congenital adrenal hyperplasia have thicker heart fat and are at higher risk for heart problems and early atherosclerosis.

The document concludes that hair loss in cats is caused by various factors, including allergies, mites, infections, and hormonal issues, with treatments varying accordingly.

People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.

A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.

Simvastatin may help manage symptoms in women with non-classic congenital adrenal hyperplasia by lowering cholesterol and certain hormone levels.

New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.

A rare skin disorder, Ichthyosis with confetti, has no cure but treatment focuses on managing symptoms with moisturizers.

A woman's hair turned gray and fell out after starting a cancer drug called imatinib mesylate.

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

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

Congenital atrichia with papular lesions causes permanent hair loss in children.

The document concludes that a thorough history, physical exam, and specific tests are crucial for diagnosing and managing hair loss effectively.

AMH levels can't reliably tell the difference between LOCAH and all types of PCOS in women with excessive hair growth.

Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.

Oral zinc therapy is effective for treating acrodermatitis enteropathica.

Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.

ESR2 gene linked to female-pattern hair loss.

Researchers found a new mutation in the HR gene linked to a rare hair loss condition.

Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.

Wnt10a may help regenerate dental pulp and form dentine.

A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.

The lotion and shampoo effectively treated scalp seborrheic dermatitis.

Hairless rats are good for testing anti-inflammatory drugs, similar to haired rats, without needing to remove fur.

A 28-year-old man with type 1 diabetes had skin and hair issues due to zinc deficiency.