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BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Systemic lupus erythematosus treatment can restore vision in patients with retinal artery occlusion.

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

KID syndrome should be reclassified as an ectodermal dysplasia.

Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.

Biotinidase deficiency can cause symptoms like sleepiness, hair loss, and seizures.

A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.

Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.

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

A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.

A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.

Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.

A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.

Bortezomib chemotherapy can cause temporary skin rashes.

A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.

A man with KID syndrome developed a rare cancer in a long-term skin infection.

A rare skin condition usually found near the eyes was found on a farmer's scalp.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.

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

Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.

A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.

Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.

A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.

Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

Netherton syndrome in a boy caused skin and hair issues, and treatment didn't work.

Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.

Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.