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Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.

A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.

LC-OCT helps accurately diagnose different types of infant hair loss without invasive methods.

Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.

Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.

Early diagnosis and treatment can stop hair loss and prevent scalp damage in pseudopelade of Brocq.

Trichoscopic examination is crucial for diagnosing congenital triangular alopecia.

The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.

A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.

Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.

Somatic BHD mutations are rare in Japanese renal tumors.

Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.

A 15-year-old girl with rare reproductive disorders received hormone therapy to develop secondary sexual traits, but infertility persisted.

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

Women with idiopathic hirsutism and PCOS have higher RBP4 levels, and PCOS is linked to greater insulin resistance; weight management may help both conditions.

A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.

Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.

Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.

A 6-year-old Asian boy has a rare scalp condition causing hair loss and thickening, with unclear causes and no effective treatment.

The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.

A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.

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

A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.

Masculinization in affected individuals occurs gradually after puberty due to hormone changes.

A woman's pelvic pain and bleeding led to finding and successfully treating a rare benign tumor in her reproductive system.

A rare pigmented skin tumor called melanotrichoblastoma was diagnosed in a 51-year-old woman.

The study found that hair transplant surgery can be used to treat a rare condition that causes a band of hair loss, but surgeons should check for skull abnormalities first.

Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.

The woman has a skin condition involving nodules, scars, and hair loss.

The twins' condition is unique and doesn't match any known syndromes.