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Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.

MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.

A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.

Patients with one autoimmune disease should be checked for other autoimmune disorders.

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

Para-aminobenzoic acid in hair supplements can cause autoimmune hepatitis.

An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

A patient with Cronkhite-Canada Syndrome developed colon cancer that spread to the liver, showing the need for regular cancer checks in such patients.

Steroid treatment greatly improved the symptoms of a boy with a rare disorder called Satoyoshi syndrome.

The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.

Recognizing bamboo hair helps diagnose Netherton’s syndrome.

A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.

A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.

Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.

Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.

Early recognition of skin lesions in Birt-Hogg-Dubé syndrome is crucial for detecting renal tumors early.

Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.

A specific gene mutation causes sparse, brittle hair in a family.

Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.

Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.

A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.

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

A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.

CDH3-related disease causes worsening eye and hair issues.

A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.

First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.

Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.