research Hypoparathyroidism as the single major component for decades of autoimmune polyglandular syndrome type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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840-870 / 1000+ results research Catalytic Antibodies in Norm and Systemic Lupus Erythematosus
Catalytic antibodies are early indicators and active participants in the development of systemic lupus erythematosus.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Association between Alopecia Areata and Thyroid Disorders
Alopecia areata patients are more likely to have thyroid disorders than healthy individuals.
research Sheehan Syndrome Leading to Acute Systolic and Diastolic Heart Failure: A Case Report
Untreated Sheehan's Syndrome caused severe heart failure in a woman, which improved with hormone and heart failure treatment.
research Alopecia Areata: A tissue specific autoimmune disease of the hair follicle
Alopecia areata is an autoimmune condition causing hair loss due to the immune system attacking hair follicles, often influenced by genetics and stress.
research A Comparison of the Efficacy, Relapse Rate and Side Effects among Three Modalities of Systemic Corticosteroid Therapy for Alopecia Areata
imTA and pulse therapy are effective for alopecia areata with manageable side effects, but relapse rates need improvement.
research Chronological clinicopathological characterization of rapidly progressive alopecia areata resistant to multiple i.v. corticosteroid pulse therapies: An implication for improving the efficacy
Current corticosteroid pulse therapy is not very effective for severe rapidly progressive alopecia areata.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
research A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
A specific gene mutation causes congenital hair loss.
research Autophagy and alopecia areata: is there a link?
Impaired autophagy may contribute to alopecia areata.
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Alopecia Areata Incognita and Diffuse Alopecia Areata: Clinical, Trichoscopic, Histopathological, and Therapeutic Features of a 5-Year Study
The study concluded that AAI and DAA are forms of the same disease, with different symptoms in men and women, and that corticosteroid treatment is effective.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Role of the Autoimmune Regulator (AIRE) gene in alopecia areata: Strong association of a potentially functional AIRE polymorphism with alopecia universalis
A specific gene change is linked to severe hair loss.
research Epithelial elements in superficial angiomyxomas: mimicry of adnexal development, and mesenchymal‐to‐epithelial transition
Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
research Linear immunoglobulin A/immunoglobulin G bullous dermatosis associated with Vogt-Koyanagi-Harada disease
A man had two rare autoimmune diseases that might be connected.
research Analysis of a multiple nuclear dots pattern in a large cohort of dermatological patients.
Anti-MND antibodies are present in various diseases, not just PBC, and their levels don't correlate with disease activity or skin symptoms.
research Lupus erythematosus, thyroiditis, alopecia areata and vitiligo – A multiple autoimmune syndrome type 3 case presentation
A 22-year-old with multiple autoimmune diseases needs a multidisciplinary treatment approach.
research 44179 Characterization of subclinical atherosclerosis in chronic severe alopecia areata.
Severe alopecia areata may increase the risk of hidden artery disease.
research Feline lymphangiosarcoma – definitive identification using a lymphatic vascular marker
Lymphangiosarcoma was confirmed in cats with specific skin symptoms using a lymphatic marker.
research Frontal Fibrosing Alopecia Involving the Limbs Shows Inflammatory Pattern on Histology: A Review of 13 Cases
Frontal fibrosing alopecia on limbs shows permanent inflammatory hair loss, not typical scarring.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Concurrent Eosinophilia Increases the Prevalence of Nail Abnormalities and Severity of Hair Loss in Patients With Alopecia Areata
Patients with alopecia areata and eosinophilia have more nail issues and severe hair loss.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Distinguishing diffuse alopecia areata (AA) from pattern hair loss (PHL) using CD3+ T cells
CD3+ T-cell presence is a reliable marker to tell apart alopecia areata from pattern hair loss.
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research Pyruvate Kinase M2 Role in Cardiovascular Repair
PKM2 is a promising target for heart repair and regeneration.
research A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.