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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research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Bidirectional association between major depressive disorder and alopecia areata: A population-based study
Depression and hair loss may influence each other.
research Sjogren-Larsson Syndrome
If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research Symptoms of ASIA Syndrome in a Female Patient with Tattoos – A Case Report
Tattoos may trigger autoimmune symptoms in some people.
research Clinical evolution of alopecia areata with a male androgenetic alopecia pattern to sisaipho.
A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
research Inherited Acrodermatitis Enteropathica
Zinc supplements improved the girl's skin and hair condition.
research The burden of alopecia areata: A scoping review focusing on quality of life, mental health and work productivity
Alopecia areata greatly affects people's life quality, mental health, and work life.
research 246 Development of an assessment tool for psychological health and help-seeking in alopecia areata patients in underserved communities
The document concludes that a new questionnaire to assess mental health in alopecia patients shows low rates of seeking mental health services and support groups.
research Reply
AUC and APL are distinct conditions needing careful clinical assessment.
research THE PATTERN AND CLINICAL PROFILE OF ALOPECIA AREATA. PANORAMIC REVIEW: UPDATE AND ADVANCES ON ETIOPATHOGENESIS, ASSOCIATED FACTORS, DIAGNOSIS, COMPLICATIONS, MANAGEMENT AND PROGNOSIS IN TREATMENT 2023
Alopecia areata causes sudden hair loss, has genetic links, and can be managed but not cured.
research Anxiety and Depression in Patients with Alopecia Areata in Eskisehir, Turkey
Patients with Alopecia Areata often have higher anxiety and depression.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Quality-of-Life Assessment in Singaporean Children with Alopecia Areata
Children with alopecia areata in Singapore generally have a good quality of life.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
research A Case of Alopecia Areata with Gluten Intolerance in a Child with Down Syndrome: A Homeopathic Perspective
Homeopathy improved hair growth, gut health, and emotions in a boy with Down syndrome.
research Anxiety, depression, and quality of life in children and adults with alopecia areata: A systematic review and meta-analysis
People with alopecia areata are more likely to have anxiety and depression and a lower quality of life.
research Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Clinical Assessment of Alopecia Areata Severity and Validating the Patient Experience: A Vodcast
Clinicians should use evidence-based tools and consider mental health when assessing alopecia areata to guide treatment.
research Autoantibodies in Pediatric SLE: Cluster Analysis and Clinical Associations, a Single Centre Cohort Study
Different autoantibody groups in pediatric SLE are linked to specific symptoms and disease outcomes.
research Alopecia Areata Prevalence in Australia: Insights From a Nationally Representative Cross‐Sectional Survey Study
Alopecia areata affects 1.2% to 2.3% of Australians, with many unaware of treatment options.
research Audiological abnormalities in patients with alopecia areata
People with alopecia areata may be more likely to have a certain type of hearing loss.
research Exploring the landscape of hair and scalp disorders in the pediatric skin of color population: A scoping review
research Exploring the Dermoscopic Patterns in Tuberous Sclerosis
Dermoscopy can help diagnose tuberous sclerosis by identifying unique skin patterns.
research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
research Modern trends in the variability of the mechanisms of formation and principles of diagnosis – Ganser syndrome
Ganser syndrome may result from both organic and psychogenic factors.