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Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.

A Rathke's cleft cyst caused hormonal imbalances and symptoms in a 68-year-old woman.

Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.

The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.

A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.

Localized trichorrhexis nodosa is a hair condition where hair becomes fragile and breaks easily due to damage.

Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

Early treatment of mixed connective tissue disease is crucial to prevent severe autoimmune conditions.

Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.

Trichorhinophalangeal syndrome causes hair, facial, and bone issues, with no specific treatment beyond gentle care.

A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.

New LSS gene variants help understand congenital hypotrichosis 14 better.

Repeated biopsies are crucial for managing lupus panniculitis when initial treatments fail.

A young woman with lupus was treated with hydroxychloroquine and prednisone.

Dermoscopy helps diagnose rare GLPLS in males.

Two cows had a rare hair disorder causing hair loss but were otherwise healthy.

A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.

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

A mutation in the KRT86 gene causes hair fragility in a Turkish family.

A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.

A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.

Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.

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

A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.

Women with PCOS have more severe liver disease.

Graham-Little syndrome causes hair loss and skin bumps, with difficult treatment options.

A girl with lupus and trisomy X has a higher risk of bone problems like avascular necrosis and osteoporosis.

Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.