research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
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research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research ‘Relaxers’ damage hair: Evidence from amino acid analysis
Hair relaxers are linked to reduced cystine levels and potential hair damage.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Ritlecitinib Efficacy in Adolescents With Alopecia Areata: A Real‐World Experience
Ritlecitinib shows promise in improving hair regrowth in adolescents with alopecia areata.
research Use of Mannitol Diuresis to Reduce Cis-Platinum Nephrotoxicity
Mannitol diuresis allows higher doses of cis-platinum for testicular cancer treatment without increasing kidney damage.
research Efficacy and safety of Cinainu in paediatric alopecia areata: an international, double-blind, randomized, placebo-controlled, phase II/III trial
Cinainu is effective and safe for treating children's alopecia areata.
research Nonclassic Congenital Adrenal Hyperplasia: An Overview
Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
research Clinical features of taste disorders in Cronkhite-Canada syndrome: A report of 10 cases
Taste disorders in Cronkhite-Canada syndrome are severe in the front of the tongue but improve with treatment.
research Lugol's solution-induced painless thyroiditis
Lugol's solution can cause thyroid problems if used long-term for non-approved reasons.
research Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure
Thyroid hormone therapy effectively treated the man's rare muscle and heart issues.
research A rare case of TEN-like acute cutaneous lupus
Timely diagnosis and aggressive treatment with high-dose steroids and B-cell depletion therapies are effective for severe acute cutaneous lupus.
research Efficacy and safety of ritlecitinib, an oral JAK3 /TEC family kinase inhibitor, in adolescent and adult patients with alopecia totalis and alopecia universalis
Ritlecitinib helps regrow hair in people with alopecia totalis and universalis and is safe to use.
research Immune deficiency–related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency
A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
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 Anaphylactic Shock Due to Intravenous Amiodarone; Delusional Parasitosis Associated with Donepezil; Connubial Androgenetic Alopecia; Ciprofloxacin-Induced Torsade de Pointes; Postvaccination Miller Fisher Syndrome; Life-Threatening Anaphylactoid Shock Caused by Recombinant Tissue Plasminogen Activator; Thiazide-Induced Hyponatremia
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 Hypersomatotropism in 3 Cats without Concurrent Diabetes Mellitus
Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
research Unraveling Translational Insights into Systemic Multi-Organ Toxicity of Cytosine Arabinoside (Ara-C): A Systematic Review of Preclinical Animal Evidence
Cytarabine can cause multiple organ toxicities, especially neurotoxicity, but better research methods are needed to fully understand and predict these effects.
research Higher Levels of Serum Uric Acid Have a Significant Association with Lower Incidence of Lower Urinary Tract Symptoms in Healthy Korean Men
Higher uric acid levels are linked to fewer urinary symptoms in healthy Korean men.
research LB919 Increased risk of skin cancer and other malignancies in patients with cutaneous lupus erythematous
Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
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 Safety and Efficacy of Ritlecitinib for the Treatment of Patients with Alopecia Areata: A Systematic Review and Meta-Analysis of Controlled Trials
Ritlecitinib effectively treats alopecia areata with manageable side effects.
research Systemic lupus erythematosus presenting with bullous lesions, cutaneous vasculitis and laryngeal ulcerations-a rare association
A woman with lupus had unusual symptoms like blisters, skin inflammation, and throat ulcers, which improved with steroid and dapsone treatment.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Navigating Rhupus Complexity
Rhupus is a complex syndrome that is hard to diagnose due to unclear clinical criteria.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.