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The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.

A new type of pachyonychia congenita may exist, caused by a different keratin mutation.

Hair bands are a new symptom of facio-genito-popliteal syndrome.

A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.

New genetic mutations linked to rare skin disorders were found in three newborns.

Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.

A family had a genetic condition causing hair loss on the scalp, passed down through four generations.

The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.

DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.

People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.

Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.

Renaming frontal fibrosing alopecia to a syndrome could improve diagnosis and treatment.

Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.

New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.

Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.

A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.

A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

Dystonia may be part of PAS-4 and linked to immune issues.

Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.

The patient had a severe itchy rash and hair loss in the armpits.