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Liver transplantation is a viable option for children with propionic acidemia, improving quality of life and diet, but does not remove all risks and long-term brain outcomes are uncertain.

A 16-year-old girl with gum overgrowth and excessive hair growth had successful gum surgery and healed well.

The treatment successfully lowered testosterone levels and reduced symptoms.

Rectangular black granules, solitary yellow dots, and mostly single-hair follicles suggest Loose Anagen Hair Syndrome.

A young man was diagnosed with a rare hair loss condition usually seen in older women.

Two siblings had a rare immune disorder caused by a FOXN1 gene mutation.

APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.

A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.

Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.

Triptorelin helps evaluate hormone production in Sertoli-Leydig cell tumors.

Toxic Shock Syndrome progresses quickly, often involves multiple organs, and is linked to Staphylococcus aureus toxins, with treatment options available but diagnostic challenges remaining.

Temporal triangular alopecia is a non-scarring hair loss in children, often linked to other health conditions.

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.

Taking thyroid medication reduced the patient's pituitary gland swelling and improved her symptoms.

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

Recognizing CVG can help diagnose systemic amyloidosis early.

A woman with anorexia developed gout from self-induced vomiting.

The newborn with Klippel-Trénaunay syndrome was healthy but needed regular check-ups for possible complications.

Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.

Traditional Chinese medicine may help relieve symptoms of Cronkhite-Canada syndrome.

The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.

Sacituzumab govitecan improves quality of life and symptoms in breast cancer patients, except for causing more diarrhea.

It's important to consider genetic hair disorders when diagnosing hair loss.

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

Cronkhite-Canada syndrome can be diagnosed without gastrointestinal polyps if there is severe mucosal atrophy and edema.

A man with four autoimmune diseases suggests a new category for multiple autoimmune syndrome.

A new genetic variant of Woodhouse-Sakati syndrome was found in two adult sisters in Russia.

Timely and aggressive treatment is crucial for improving outcomes in severe complications of adult-onset Still's disease.

The 755-nm alexandrite laser effectively and quickly treats trichostasis spinulosa with minimal pain and no side effects.

A woman with chronic hepatitis C had a rare skin condition linked to her illness.