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Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Anti-epileptic drugs may cause visual and hair side effects due to enzyme inhibition, especially in genetically predisposed individuals.

An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.

Uncombable hair syndrome is linked to Zellweger syndrome.

Mutations in the HOXC13 gene cause hair and nail development issues.

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.

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

Abrocitinib effectively treats severe alopecia areata with significant improvement and no side effects.

A patient with a nerve disorder died from infection complications after developing insulin resistance from a treatment.

Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.

Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.

Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.

The report shows a young man with Hutchinson-Gilford Progeria Syndrome had typical and additional eye problems related to the disease.

Biotin improved hair appearance in uncombable hair syndrome but didn't change hair structure.

The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.

A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.

Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.

Trichothiodystrophy causes unusual hair and developmental issues.

Chronic arsenic exposure can cause liver damage and other health issues.

A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.

Ruxolitinib helped a patient with alopecia areata regrow hair.

Knuckle Acanthosis Nigricans is common in Latin American youth and may indicate early insulin resistance, especially in those with normal weight.