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The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.

A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.

Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.

A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Significant progress was made in understanding PXE, but effective treatments are still needed.

Monilethrix is a rare genetic hair disorder that's hard to treat.

Dermoscopy helped diagnose a rare hair disorder in a 2-year-old boy.

The girl has both monilethrix and Type 1 diabetes, but no link between the two conditions is known.

Monilethrix causes fragile, patchy hair loss.

New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.

Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.

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

AE can have varied symptoms and genetic causes, but zinc therapy helps.

Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.

Hair shaft disorders, often due to genetics or environment, lack specific treatments but can be managed with gentle hair care and may improve with age or topical treatments.

Understanding hair follicle development can help treat hair loss, skin regeneration, and certain skin cancers.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

Non-classical 21 hydroxylase deficiency is an underdiagnosed cause of female hair loss and polycystic ovarian syndrome.

Epidermolysis bullosa simplex causes easily blistered skin due to faulty skin cell proteins, leading to new treatment ideas.

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.

Monilethrix causes different levels of hair loss in family members.

Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

The review shows that skin symptoms like chronic fungal infections, hair loss, and skin depigmentation are key for early detection and management of APECED.

Different genes are linked to various types of hair loss.

Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.

Hairless protein can block vitamin D activation in skin cells.

HOXC13 is essential for hair and nail development by regulating Foxn1.