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.
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research Acute Disseminated Paracoccidioidomycosis with Molluscoid Lesions in a Young Woman
A young woman with a rare fungal infection showed significant improvement after treatment with antifungal medication.
research Repigmentation of leukoderma in a piebald patient associated with a novel c-KIT gene mutation, G592E, of the tyrosine kinase domain
A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research S4309 Khat-Associated Liver Injury in Yemeni Male With Hepatic Steatosis
research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
research Erosive pustular dermatosis of the scalp due to EGFR inhibitors: A multicentric study by EADV task force of ‘Dermatology for Cancer Patients’
Erosive pustular dermatosis of the scalp can occur about 17 weeks after starting EGFR inhibitors, and early minocycline may help manage it.
research Cronkhite–Canada Syndrome With Multiple Mesenteric Lymphadenopathy: A Case Report
Early diagnosis and treatment with corticosteroids can improve outcomes in Cronkhite–Canada syndrome.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Clinical Diagnosis and Management of Vitamin - A Responsive Canine Dermatosis
Vitamin A supplements improved skin and health issues in dogs.
research Cutaneous manifestations of chronic kidney disease - A cross sectional study
Most patients with chronic kidney disease had skin issues like paleness and dry skin, and treating these can improve their lives.
research Alopecia areata, thyroiditis and vitiligo vulgaris in a Japanese patient with smoldering type adult T‐cell leukemia/lymphoma
A patient with leukemia/lymphoma also had multiple autoimmune diseases, suggesting a link between them.
research Correspondence
RAPK is a rare skin disorder with pigmented spots, mainly on hands and feet, starting in youth.
research The Rho GTPase exchange factor Vav2 promotes extensive age-dependent rewiring of the hair follicle stem cell transcriptome
Vav2 changes how hair follicle stem cells' genes work as they age, which might improve regeneration but also raise cancer risk.
research Neurological presentation of psittacosis during a small outbreak in Leicestershire.
A woman showed neurological symptoms from psittacosis linked to bird exposure, improving after antibiotic treatment.
research MIXED CONNECTIVE TISSUE DISEASE EVOLVING FROM THE SEQUENTIAL OVERLAP OF SYSTEMIC LUPUS ERYTHEMATOSUS, SJÖGREN’S SYNDROME, RHEUMATOID ARTHRITIS AND DERMATOMYOSITIS: A FOLLOW-UP
Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
research Dermatological Manifestations of COVID-19: A Brief Review
COVID-19 can cause skin issues like "COVID toes," rashes, hair loss, and hand eczema, and dermatologists are important for recognizing these signs.
research White monkey syndrome in infant baboons (Papio species)
Infant baboons suffered from zinc poisoning due to poor cage conditions.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Rare Case of Cutis Vertex Gyrata
A 21-year-old male has a rare scalp condition with excessive skin folds.
research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
research 067 BELCOMID: BELgian Cohort study of COVID-19 in Immune Mediated Inflammatory Diseases
COVID-19 infection rates were low in patients with immune diseases, regardless of their treatment type.
research Prevalence and Associated Factors of Diabetic ketoacidosis among Patients Living with Type 1 Diabetes in Makkah Al-Mukarramah City
Diabetic ketoacidosis is common among people with Type 1 diabetes in Makkah Al-Mukarramah City.
research Hair and Nail Manifestations of HIV Infection
HIV can cause hair loss and changes in nails, which may indicate disease progression.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Pathology in Practice
A 7-year-old dog with a rare autoimmune disease was euthanized due to severe anemia and poor prognosis.
research Difficult-to-Treat Idiopathic Generalized Epilepsy in a Young Woman
The young woman with epilepsy became seizure-free after finding the right combination of medications.
research Dermatological manifestations in patients with chronic kidney disease
Patients with chronic kidney disease often have various skin problems that affect their quality of life, but early treatment can help.
research 128 Bimekizumab led to rapid & deep normalisation of molecular signatures associated with PASI sub-components, preceding clinical skin clearance
The study investigated the effects of bimekizumab (BKZ) on psoriatic skin, focusing on the Psoriasis Area and Severity Index (PASI) sub-components: erythema, thickness, and scaling. In the BE RADIANT trial, patients receiving BKZ showed significant reductions in these sub-scores by Week 8, with ≥95% improvement by Week 12, maintained through Week 48. Molecular analysis revealed complete normalization of gene signatures associated with these sub-components by Week 8. The study found a correlation between changes in interleukin (IL)17A/IL17F expression and gene expression changes, highlighting BKZ's impact on keratinocytes. The results demonstrate that molecular resolution precedes clinical skin clearance, with all sub-components being reliable indicators of BKZ response.