research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
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750-780 / 1000+ resultsresearch Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease
A JAK1 variant causes hair loss, skin issues, and thyroid disease, but treatment with a specific inhibitor can help.
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 Adrenocortical Adenocarcinoma in a Syrian Golden Hamster ( Mesocricetus auratus) With Suspected Hyperadrenocorticism
Adrenal tumors in hamsters are rare and hard to diagnose, highlighting the need for better diagnostic tools.
research P-12 ACTH-INDEPENDENT CUSHING SYNDROME WITH INCONCLUSIVE ADRENAL CT SCAN RESULTS
Ketoconazole improved symptoms of ACTH-independent Cushing syndrome despite inconclusive initial scans.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome.
Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
research Peroxisome Proliferator Activated Receptor-Gamma Tissue Expression and Gene Polymorphism in Alopecia Areata in an Egyptian Sample
PPAR-γ may be a key target for treating alopecia areata and other skin conditions.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research THE BIOLOGY OF HAIR CARE
Better hair care products are needed to protect against grooming and chemical damage.
research P46 A rare case of costovertebral arthritis in SLE
Costovertebral arthritis can cause chronic back pain in SLE patients and needs thorough evaluation.
research Cutaneous Manifestations of Sarcoidosis : Reports of Two Cases
Sarcoidosis can cause various skin issues, making diagnosis difficult.
research 1406 DETECTION OF MEMBRANE ANDROGEN-BINDING SITE IN LIVING RAT PROSTATE AND EVALUATION OF ITS ROLE IN PROSTATE BLOOD FLOW REGULATION
The research found that androgens help control blood flow in the rat prostate through a specific binding site.
research Comprehensive Case Analysis: Diagnosing and Managing Myositis in Newly Diagnosed Systemic Lupus Erythematosus Patients in Indonesia.
Early diagnosis and treatment of myositis in SLE patients lead to positive outcomes.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population
The study found increased skin pigmentation and variable melanocyte density in a patient with Addison's disease.
research Paroxysmal Nocturnal Hemoglobinuria in Systemic Lupus Erythematosus: A Rare Manifestation.
PNH can occur in patients with SLE, so doctors should be aware of this.
research Immunohistochemical analysis of procathepsin L and cathepsin B in cutaneous Kaposi's sarcoma
Kaposi's sarcoma lesions might originate from benign tissue changes.
research Novel recombinant human acid α-glucosidase with optimal glycosylation is significantly better than standard of care enzyme replacement for glycogen clearance in skeletal muscles of GAA knock-out mice
research Polypoid Cystitis and Bilateral Hydronephrosis Mimicking Urothelial Carcinoma
Polypoid cystitis can mimic bladder cancer but can be effectively treated with surgery, stents, and medication.
research Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1
The girl's condition improved with treatment, showing no new autoimmune diseases and hair regrowth.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research Ovarian function after renal transplantation: comparison of cyclosporin A with azathioprine and prednisone combination regimens
Ovarian function was similar in both treatment groups, but both caused excessive hair growth.
research Upadacitinib for management of alopecia areata and rheumatoid arthritis: Letter to the editor
Upadacitinib significantly improved both rheumatoid arthritis and alopecia areata in a patient.
research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
research Blood pressure levels in women with androgenetic alopecia
Women with androgenetic alopecia may have higher blood pressure levels.
research Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis
A rare gene variant causes hair and nail issues in a family.