research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
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330-360 / 1000+ resultsresearch Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Forsythiaside A ameliorates sepsis-induced acute kidney injury via anti-inflammation and antiapoptotic effects by regulating endoplasmic reticulum stress
Forsythiaside A reduces kidney damage from sepsis by lowering inflammation and cell death.
research SAT0631-HPR WHEN CAN I STOP MY STEROIDS? THE PATIENT PERSPECTIVE ON GLUCOCORTICOID USAGE IN ADULT INFLAMMATORY MYOPATHY
Patients need better information about the risks of long-term steroid use.
research Case report: pemphigus vulgaris in an adolescent
An 18-year-old girl with pemphigus vulgaris needed strong medication and careful treatment due to ineffective initial therapies and side effects.
research Hyperpigmentation in a child as a clue to chikungunya
Chikungunya can cause hyperpigmentation in children and should be considered in diagnosis.
research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
research Toxic epidermal necrolysis due to cephalexin
A woman developed a severe skin reaction called toxic epidermal necrolysis after taking the antibiotic cephalexin.
research A10.09 Safety data of four treatment regimens in early rheumatoid arthritis patients
All four treatments for early rheumatoid arthritis had similar and mostly mild side effects.
research GP85 The irish experience in paediatric parry romberg syndrome- a case series highlighting management and surgical outcomes
Children with Parry Romberg Syndrome had successful facial fat-grafting surgeries after disease stabilization with no complications.
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research Central nervous system involvement in autoimmune polyglandular syndrome
Autoimmune polyglandular syndrome can cause temporary brain issues that may improve on their own.
research Localized alopecic myxedema of the scalp
A person with thyroid problems had rare, swollen, bald spots on their scalp caused by a condition usually found on the shins.
research Case Report: Pityriasis Rosea-Like Eruption Following COVID-19 Vaccination
A rare skin rash after COVID-19 vaccination shouldn't stop future vaccinations.
research Bilateral Periorbital Erythema and Swelling as an Initial Presentation of Systemic Lupus Erythematosus: A Rare Case
Recognizing unusual symptoms can lead to early diagnosis and effective treatment of systemic lupus erythematosus.
research Drug Information Analysis Service
Cromolyn sodium's effectiveness for treating asthma in children under 2 is unclear, possibly more beneficial for older children, and further research is needed.
research Ectrodactyly, Soft‐Tissue Syndactyly, and Nodulocystic Acne: Coincidence or Association?
The case suggests a possible link between severe acne and certain bone deformities.
research Chronic tophaceous gout secondary to self-induced vomiting in anorexia nervosa
A woman with anorexia developed gout from self-induced vomiting.
research Rheumatologic Manifestations of Pregnancy
Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research Exploring management of acrodermatitis.
Early recognition and zinc treatment can effectively improve acrodermatitis symptoms.
research Acquired trichomegaly with topiramate
A woman's eyelashes grew thicker and longer after taking topiramate, but returned to normal when she stopped the medication.
research A case of simultaneous onset of highly active systemic lupus erythematosus and IgG4-related renal disease
Renal histology is crucial for diagnosing simultaneous SLE and IgG4RD.
research Diffuse alopecia areata is associated with intense inflammatory infiltration and CD8+ T cells in hair loss regions and an increase in serum IgE level
Diffuse alopecia areata involves more inflammation and higher allergy-related antibodies than patchy types.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.
research Case Report: Multiple Scalp Abscesses due to Mycobacterium abscessus Infection Following Triamcinolone Injection in an Immunocompetent Person
Scalp abscesses can occur after hair loss treatments and may be caused by Mycobacterium abscessus.
research The peach RGF/GLV signalling peptide pCTG134 is involved in a regulatory circuit that sustains auxin and ethylene actions
The peach gene pCTG134 helps control the interaction between auxin and ethylene hormones during fruit ripening.
research Pediatric Systemic Lupus Erythematosus
Early and aggressive treatment with individualized care plans is crucial for managing pediatric systemic lupus erythematosus.
research Infliximab Induced Lupus in Crohnʼs Disease
Infliximab can trigger lupus-like symptoms in Crohn's disease patients.