Search

everythinglearnresearchcommunity

for

Search:↓

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

Women with PCOS have altered brain structure and reduced cognitive performance.

Accurate diagnosis is crucial to distinguish between PCOS and rare ovarian tumors in teens with similar symptoms.

Pimozide treatment resolved cysts and partially restored cheek fat in a man with Barraquer–Simons syndrome.

Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.

Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.

Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.

A child lost eyelashes on one eyelid after COVID-19, likely due to a temporary hair loss condition.

Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.

A young Saudi girl with uncontrolled type 1 diabetes and hypothyroidism had two rare conditions, Mauriac syndrome and Van Wyk–Grumbach syndrome.

Carbamazepine caused hair loss and skin eruptions in a woman, which improved after stopping the medication.

NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.

Sympathetic activation and venous tone are crucial for heart failure symptoms.

Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.

Tight hairstyles can cause a rare scalp condition with thick skin folds.

Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.

Early and accurate diagnosis of congenital smooth muscle hamartomas is crucial to distinguish them from other conditions.

Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.

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 woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.

Trichotillomania is a complex condition involving compulsive hair pulling that causes distress and hair loss.

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

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.

A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.

Clouston Syndrome can be linked to rare sweat gland tumors.

A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.

Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.

The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.

Consider NF1 in newborns with rare congenital anomalies.