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People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

A rare ovarian tumor was found in a young woman with a genetic fat disorder.

Fresh plasma transfusions did not help treat Leiner disease in an infant.

Women with PCOS are more likely to have fatty liver disease and worse metabolic health.

Low protein diets cause severe health issues in rats, but high protein diets can reverse these effects.

Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.

Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.

Lower LDL-c levels predict higher COVID-19 mortality.

The patient's hair was thinner and had fewer lipids due to a genetic mutation.

This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.

An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.

AGA patients have higher heart disease risk.

A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.

Central lipohypertrophy in HIV-infected women may lead to shorter eyelashes.

Hepatitis B virus alters steroid hormones in male mice, reducing dihydrotestosterone to inhibit viral replication.

The document reports the first case of a rare skin condition in Colombia, the 19th case worldwide.

A boy had a rare scalp condition with thickened skin and different-colored hair.

Sex hormones affect liver fat and metabolic health differently in men and women.

Early recognition and a team approach are crucial for managing diffuse alveolar hemorrhage in antiphospholipid syndrome.

Epidermolysis bullosa is a genetic disease causing fragile skin and blisters in both animals and humans.

Two new gene mutations cause a rare hair disorder.

The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.

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.

Accurate diagnosis and zinc supplements can improve life quality in acrodermatitis enteropathica, even with normal zinc levels.

High uric acid levels are more common in PCOS patients, especially those with androgenic PCOS, and are linked with increased cardiovascular risk and other metabolic issues.

Bezafibrate treatment improved skin and spleen health in aging mice but didn't extend lifespan.

The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.

A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.

New therapies for Birt–Hogg–Dubé syndrome are being developed based on understanding the FLCN gene's role.

Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.