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Young women with nonclassic congenital adrenal hyperplasia may experience worse sexual function and mild depression compared to healthy women.

A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.

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

Cidea is essential for proper lipid storage and secretion in sebaceous glands, affecting skin and hair health.

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.

Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.

Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.

A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.

Blocking certain pathways with kinase inhibitors may help treat cutaneous lupus erythematosus.

People with early graying hair often have lower levels of iron, ferritin, and calcium.

Vitamin D and calcium are essential for normal hair growth.

Prednisone treatment helped a woman with Cronkhite-Canada syndrome recover from hair loss and digestive issues.

A Chinese man with KID syndrome had a new mutation in the GJB2 gene.

A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.

Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.

Recognizing mild or atypical cases of ectodermal dysplasia is crucial for better treatment and future planning.

Two siblings with a genetic mutation had a form of rickets that doesn't respond to vitamin D.

Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.

Folic acid helped a calf regrow hair lost due to deficiency.

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

Early diagnosis and teamwork are crucial for managing ILVASC effectively.

Zinc supplements effectively treat inherited zinc deficiency in infants.

Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.

Treatment with vitamin A did not improve the child's skin condition.

Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.

A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.

Adding copper helps turkey poults grow better when molybdenum is present.

A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.

Most urban, well-fed people in Pakistan have severe vitamin D deficiency and show symptoms.

Two sisters with rickets and hair loss had a genetic issue with vitamin D processing, and only improved when given phosphorus supplements.