research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
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600-630 / 1000+ resultsresearch A blistering child: sudden erythema with blisters in a sick girl
Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
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 Leucocytoclastic vasculitis as onset symptom of ulcerative colitis
A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
research Hyperpigmentation in a child as a clue to chikungunya
Chikungunya can cause hyperpigmentation in children and should be considered in diagnosis.
research Autoimmune gastritis and parietal cell reactivity in two children with abnormal intestinal permeability
Children with autoimmune gastritis showed improved intestinal health over time and should be checked for other autoimmune conditions.
research The Case Files
Early diagnosis, decontamination, and supportive care are crucial for managing acute radiation syndrome.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Successful Management of Netherton Syndrome Using IVIG and Dupilumab: A Case Report
IVIG and dupilumab effectively improved symptoms in a child with Netherton syndrome.
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 Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Postoperative complicated appendectomy revealing Crohn’s disease in a pediatric patient
A 13-year-old boy's appendicitis surgery revealed Crohn's disease, highlighting the need for careful examination to guide treatment.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research A concomitant diagnosis of COVID‐19 infection and systemic lupus erythematosus complicated by a macrophage activation syndrome: A new case report
COVID-19 may trigger systemic lupus erythematosus, requiring careful diagnosis and treatment.
research Clinical Profile of Methotrexate-resistant Juvenile Localised Scleroderma
Some children with localized scleroderma are rarely resistant to methotrexate, and no common profile for resistance was found.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research Steroid Responsive Mononeuritis Multiplex in the Cronkhite–Canada Syndrome
Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
research Combination Therapy for Extensive Tumoral Calcinosis in Juvenile Dermatomyositis
A multi-drug treatment can effectively clear extensive calcinosis in juvenile dermatomyositis.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Unusual non-infectious cause of meningitis
A woman had meningitis caused by mixed connective tissue disease, not an infection.
research P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
A new IL6ST gene variant may cause a unique form of hyper-IgE syndrome with skin abscesses and high IgE levels.
research A case of systemic mastocytosis - an ultrastructural and immunohistochemical study of the dermal mast cells in relation to activation of the epidermal melanin unit
Prednisone reduces organ mast cell infiltration but does not alter the abnormal appearance of mast cells in systemic mastocytosis.
research Retrospective Analysis of Systemic Corticosteroids for Alopecia Areata in Pediatric Patients
Systemic steroids temporarily improve severe alopecia areata in children but often lead to relapse.
research Cutaneous Manifestations of Mucopolysaccharidoses
People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
research Atypical pediatric presentation of alopecic and aseptic nodules of the scalp with features of dissecting cellulitis
A 9-year-old boy had a rare scalp condition usually seen in young men.
research TRIMETHOPRIM-INDUCED ASEPTIC MENINGITIS
Trimethoprim-sulfamethoxazole can cause aseptic meningitis.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research A Filipino with Systemic Lupus Erythematosus-Scleroderma Overlap Syndrome
Recognizing and treating overlap syndrome in connective tissue diseases is crucial.