Search

everythinglearnresearchcommunity

for

Search:↓

WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.

Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.

VKHD and sarcoidosis may share a common cause.

Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.

Chromosomal changes, including those in the WRN gene and rDNA, may significantly contribute to aging.

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

The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.

New gene variants were found for rare skin and hair disorders, improving understanding and treatment.

A child with Sweet syndrome was found to have chronic granulomatous disease and improved with treatment.

A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.

Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

Ganser syndrome may result from both organic and psychogenic factors.

The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.

Alopecia can be reversed with timely steroid treatment in VKH and SO diseases.

A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.

Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.

Purpura fulminans can signal underlying autoimmune disorders, not just infections.

A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

Vitiligo and alopecia areata may share common causes.

A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.

KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.

New genes linked to woolly hair have been found, which could help treat it and change hair texture.

An 11-year-old girl with Kawasaki disease experienced hair loss that improved after treatment.

The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.

The Walleye dermal sarcoma virus cyclin causes excessive skin cell growth in mice.