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A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.

Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.

Birt–Hogg–Dubé Syndrome requires genetic testing for accurate diagnosis due to its similarities with tuberous sclerosis.

A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.

Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.

Early diagnosis and prednisone treatment can improve outcomes in Cronkhite-Canada syndrome.

Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.

A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.

Cantú syndrome may be linked to pituitary adenomas.

Four children had unmanageable pale blond hair due to uncombable-hair syndrome.

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

A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.

The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.

Dystonia may be part of PAS-4 and linked to immune issues.

Danon disease can be hard to diagnose due to non-specific symptoms.

The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.

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

NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.

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

Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.

The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.

A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.

The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.

Cronkhite-Canada Syndrome often leads to death within 6-18 months.

A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.

Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.

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

A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

Dupilumab effectively controls symptoms in infants with Netherton syndrome.