Search

everythinglearnresearchcommunity

for

Search:↓

Gomez–Lopez–Hernandez syndrome can cause focal hair loss and developmental delays but some children can still function well and excel in school and sports.

A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.

A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.

Mutations in the p63 gene affect skin adhesion, barrier integrity, and hair growth.

A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.

Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.

DPR can cause skin, hair, and nail issues, sometimes appearing later in life.

PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.

Matriptase is crucial for keeping epithelial tissues healthy and functioning properly.

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.

Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.

Certain metabolites may help diagnose and predict polycystic ovary syndrome.

Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.

Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.

The woman was misdiagnosed with Graves Disease, leading to incorrect treatment, while she actually had Pituitary Resistance to Thyroid Hormone.

The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.

A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.

Individuals with male pseudohermaphroditism often do better raised as females with early surgery.

A rare skin reaction from cancer treatment was successfully managed with topical treatments and antihistamines.

A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.

Obesity is linked to higher metabolic syndrome and LH/FSH ratios, but no significant differences exist among PCOS phenotypes.

A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.

Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.

Severe hypothyroidism can cause temporary liver and kidney issues, which improve with thyroxine treatment.

Trichobezoars can cause serious health issues like biliary obstruction, and treatment includes surgery and therapy to prevent recurrence.

Inflammation may cause nail issues in Cronkhite–Canada Syndrome.

Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.

Frequent blood transfusions in beta thalassemia can lead to thyroid problems.