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A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.

Pachyonychia congenita is linked to a keratin gene on chromosome 17.

Oral Acitretin effectively resolved symptoms in a child with Netherton 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.

An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.

A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.

A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.

A postmenopausal woman had rare symptoms due to a possible ovarian tumor, needing thorough evaluation.

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.

A new genetic mutation causing Werner's syndrome was found in an Indian man.

An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.

A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.

A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.

Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.

Lichen planopilaris can occur with multiple autoimmune diseases.

A pregnant woman with Cushing Syndrome got worse and sadly passed away.

Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.

Recognizing and treating overlap syndrome in connective tissue diseases is crucial.

Hair loss in Cronkhite-Canada syndrome is reversible by treating the gut issues and doesn't need steroid treatment for the hair itself.

Connective tissue nevi have distinct features, and reflectance confocal microscopy is useful for early diagnosis.

A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.

A nutrition program improved a young woman's concussion symptoms.

The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.

Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.

Recognizing minor skin lesions can help identify serious cancer syndromes.

GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.

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.

Female relatives of PCOS patients have a higher chance of showing PCOS symptoms.

The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.