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A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.

Chronic granulomatous disease may be linked to developing systemic lupus erythematosus.

Traumatic anserine folliculosis is a harmless skin condition in young males that needs correct diagnosis to avoid unnecessary treatments.

IL-1 blockade is effective for treating SURF, and personalized treatment is needed.

A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.

New LSS gene variants help understand congenital hypotrichosis 14 better.

A 6-year-old girl's inability to grow her hair long was due to Loose Anagen Hair Syndrome, which causes hair to shed easily and may improve with age.

Finasteride may help reduce symptoms in male Tourette syndrome patients.

Managing recurrent painless thyroiditis is challenging and should be personalized based on episode frequency, severity, symptoms, and patient preferences.

A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.

Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.

A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.

Removing anthrax toxin receptor 1 in pigs prevents Senecavirus A infection and causes a rare disease similar to GAPO syndrome.

Careful management of chronic hyponatremia is crucial to prevent severe neurological issues.

A girl with Rapunzel syndrome had surgery to remove a hairball, and addressing mental health is important to prevent it from happening again.

Fertility-preserving surgery can help women with early-stage Sertoli-Leydig cell tumors conceive naturally.

Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.

Parry–Romberg Syndrome can involve the brain even without obvious symptoms, and a new diagnostic framework is suggested for early detection.

Loose Anagen Syndrome is more common in females and may be inherited, often confused with other hair disorders, and lacks evidence for biotin treatment effectiveness.

The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.

Trichodysplasia spinulosa is a rare skin condition caused by a virus, treatable with antiviral medication.

Oral valganciclovir improved a patient's skin condition caused by immunosuppression.

Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.

IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.

A man's rare tumor caused unusual nerve-related symptoms that improved after surgery.

Hair bands are a new symptom of facio-genito-popliteal syndrome.

SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.

A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.

Pre-surgical embolization and a two-stage resection improve outcomes for rare sacral tumors.

Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.