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

Corticosteroids improved symptoms in a man with Cronkhite-Canada Syndrome.

A child with a rare vitamin D-resistant condition improved with treatment.

X-linked mental retardation includes various syndromes with both mental and physical abnormalities.

Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.

A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.

Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.

Women with myotonic dystrophy might get diseases related to male hormones because their body tissues are extra sensitive to these hormones.

Spontaneous keloids may be linked to nephrogenic systemic fibrosis in dialysis patients.

A new mutation in the KRT86 gene was found to cause the hair disorder monilethrix in a Han family.

Overexpressing the mineralocorticoid receptor in mouse skin causes skin thinning, early skin barrier development, eye issues, and hair loss.

Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.

Minoxidil can cause a rare but serious condition that leads to fluid buildup around the heart and drug-induced lupus.

A possible link exists between minimal change nephrotic syndrome and complete hair loss.

Consider amyloidosis in patients with specific nail changes and check for systemic issues.

Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.

Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.

A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.

Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.

Rapamycin may help treat Leigh syndrome by targeting protein kinase C.

The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.

A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.

Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.

The FDA did not approve certain drugs for prostate cancer prevention due to concerns about their effectiveness and potential risks.

Mutations in the WNT10A gene cause Short Anagen Hair syndrome and increase the risk of male pattern hair loss.

A woman with lupus had muscle weakness due to kidney issues and was successfully treated with medication.

The study found two new mutations in a Chinese patient with severe biotinidase deficiency.