Search

everythinglearnresearchcommunity

for

Search:↓

Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.

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

Most skin conditions in Down syndrome are benign and involve dry or thickened skin.

A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.

Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.

New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.

The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.

A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.

A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.

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

A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.

Skin and mucous symptoms are key for diagnosing autoimmune connective tissue diseases.

A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.

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.

Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.

Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.

A young man was diagnosed with a rare hair loss condition usually seen in older women.

An elderly woman's upper lip lump, thought to be a mucocele, was actually a rare type of lymphoma usually found on legs, treated successfully with chemotherapy and radiation.

Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.

Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.

A rare genetic mutation causes severe immune issues, hair loss, and nail problems.

Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.

A woman's hair loss, resembling an autoimmune condition, improved after treatment, but requires ongoing checks due to potential serious associations.

Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.

An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.

The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.

A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.

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

Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.

Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.