research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
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research Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α‐synuclein triplication (Iowa kindred)
The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
research Skin manifestations amongGATA2-deficient patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Treatment of alopecia areata in pre‐adolescent children with oral tofacitinib: A retrospective study
Oral tofacitinib may effectively treat hair loss in children with alopecia areata.
research A Review of the Dermatological Manifestations of Coronavirus Disease 2019 (COVID-19)
COVID-19 can cause various skin problems, including reactions to protective gear and medication, with different rates reported worldwide, and more research is needed to fully understand these skin issues.
research Dermatological manifestations associated with COVID‐19: A comprehensive review of the current knowledge
COVID-19 can cause various skin issues, including rashes and hair loss, which usually heal on their own and don't always indicate severe illness.
research Hair keratin KRT81 is expressed in normal and breast cancer cells and contributes to their invasiveness
The hair keratin gene KRT81 is found in both normal and breast cancer cells and helps them invade surrounding tissues.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research Acquired trichomegaly of the eyelashes and hypertrichosis induced by bimatoprost
Bimatoprost can cause longer, thicker, darker eyelashes and eyebrows.
research Beneficial effect of spironolactone on androgenic alopecia
Spironolactone may help reduce hair loss in androgenic alopecia.
research Spironolactone and XPB: An Old Drug with a New Molecular Target
Spironolactone, a heart and liver drug, has new uses including cancer treatment, viral infection prevention, and skin condition improvement.
research Systemic causes of hair loss
The article concludes that correctly diagnosing systemic causes of hair loss requires a detailed clinical evaluation and a systematic diagnostic approach.
research Pathological findings in a case of stiff person syndrome with anti‐GAD antibodies
Finasteride significantly reduced tics and obsessive-compulsive symptoms in patients with Tourette syndrome.
research Severe steroid-dependent idiopathic angioedema with response to rituximab
A woman with severe angioedema improved significantly after treatment with rituximab.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research The concealed side of caspases: beyond a killer of cells
Caspases do more than kill cells; they also help in cell growth and disease, and targeting them could lead to new treatments.
research Drug eruptions in dermatology
Skin reactions to drugs are common and can be deadly, usually requiring stopping the drug and may be better prevented with genetic testing in the future.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Approach to Patients with Suspected Rheumatic Disease
Doctors should use a detailed patient history and physical exam to diagnose joint pain, and consult a rheumatologist early for suspected autoimmune diseases.
research CD8-positive Lymphocytes in Graft-Versus-Host Disease of Humanized NOD.Cg-Prkdcscid Il2rgtm1Wjl/SzJ Mice
CD8+ T cells play a key role in graft-versus-host disease in certain mice models.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Differential impact of environmental factors on systemic and localized autoimmunity
Environmental factors like diet and vitamin levels, especially Vitamin D, can affect autoimmune diseases differently, with lifestyle changes potentially improving outcomes.
research Dermatologic Conditions of the Early Post-Transplant Period in Hematopoietic Stem Cell Transplant Recipients
Skin problems are common after stem cell transplants, and early treatment by dermatologists can improve patient outcomes.
research Nonalimental Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
research Ability to cycle despite severe freezing of gait in atypical parkinsonism in Fahr's syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis lethargica due to Epstein–Barr virus infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research Late presentation of myotonic dystrophy
Myotonic dystrophy should be considered in patients with hair thinning, and genetic counseling is important.
research Immune-Mediated Diseases of the Central Nervous System
The document explains the difficulty in diagnosing and treating brain diseases caused by the immune system and stresses the need for quick and accurate tests.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Concurrence of giant cell arteritis in a patient with de quervain's thyroiditis
Spironolactone may help reduce hair loss in androgenic alopecia.