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A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.

A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.

A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.

Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.

Finasteride may help reduce tic severity in male Tourette syndrome patients.

The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.

A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.

This rare genetic disorder causes permanent hair loss and skin bumps from birth.

The girl has a genetic hair condition causing thin hair since childhood.

Most people with metabolic syndrome in Brazil have skin issues, especially if they are morbidly obese.

Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.

A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.

The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.

Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.

An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.

Two cases of hairy elbows syndrome were described, with normal skin texture and symmetrical hair growth.

A new gene mutation linked to Olmsted syndrome may increase cancer risk, suggesting the need for ongoing patient monitoring.

Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.

Netherton's disease causes multiple hair defects.

The patient's hair improved after treatment, but the genetic link is unclear.

Late dumping syndrome after fundoplication can be diagnosed with an oral glucose tolerance test and managed with diet changes.

The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.

Systemic lupus erythematosus is diagnosed earlier in males than females.

Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.

The patient was diagnosed with anorexia nervosa and severe malnutrition, requiring urgent refeeding and monitoring.

A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.

Patients with acute and subacute skin lupus respond faster to belimumab than those with chronic skin lupus.