research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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research A sharply marginated erythematous dermatitis in a toddler
A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
research A Case Report of Autoimmune Hemolytic Anemia with Deep Vein Thrombosis in a 16-year-old Girl - Is It Systemic Lupus Erythematosus?
A 16-year-old girl with autoimmune hemolytic anemia and deep vein thrombosis improved with treatment, possibly indicating systemic lupus erythematosus.
research Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Prevalence and Pattern of Skin Manifestations in COVID-19 Patients; A Cross-Sectional Observational Study in Saudi Arabia
Some COVID-19 patients in Saudi Arabia had skin symptoms, with rashes being the most common.
research Safety of Human Papillomavirus Vaccines: A Review
research Severe cardiac conduction abnormalities associated with atypical toxic shock syndrome
A boy with toxic shock syndrome had severe heart rhythm problems but recovered with treatment.
research 8507 Misdiagnosis of Graves’ and RAI Treatment in Patient with THRB Gene Mutation
Misdiagnosis led to unnecessary treatment due to a genetic mutation affecting thyroid hormone resistance.
research Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13
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 Vitamin D-dependent rickets type II: extreme end organ resistance to 1,25-dihydroxy vitamin D3 in a patient without alopecia
A boy with severe Vitamin D-resistant rickets did not respond to treatment and lacked a common symptom, suggesting a need for alternative treatments.
research The debut of systemic lupus erythematosus after suffering COVID-19 = Дебют системного червоного вовчака після перенесеного COVID-19
COVID-19 may trigger systemic lupus erythematosus in some people.
research Pityriasis rubra pilaris: a rare inflammatory dermatosis
An 18-year-old woman was diagnosed with a rare skin condition called Pityriasis rubra pilaris.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research SAT340 Matters Of The HAART - Ritonavir Induced CYP3A4 Inhibition of Intranasal Fluticasone Leading To Cushing’s Syndrome
HIV medication ritonavir can increase the effects of nasal sprays like fluticasone, causing Cushing's syndrome.
research Relapsing Course of Sulfasalazine-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Complicated by Alopecia Universalis and Vitiligo
Sulfasalazine can cause severe allergic reactions leading to long-term autoimmune issues like hair loss and skin discoloration.
research Combination Of Regulatory T Cells and Rapamycin As Treatment For Experimental Chronic Graft-Versus-Host Disease
Using regulatory T cells and Rapamycin together improves chronic graft-versus-host disease treatment outcomes in mice.
research Rare and common manifestations of COVID‐19 in children
COVID-19 can cause various skin issues in children, mostly not severe, with chilblain-like lesions being common, especially in adolescents.
research The role of R-spondins and their receptors in bone metabolism
R-spondins and their receptors help increase bone growth and may be used to treat bone loss diseases.
research Cutaneous signs in COVID ‐19 patients: A review
COVID-19 can cause different skin symptoms that may help with early diagnosis and show how severe the disease is.
research Systemic Lupus Erythematous and Vitamin D Deficiency in an Adult Sudanese Patient with Sickle Cell Trait
A patient with sickle cell trait and low vitamin D might have lupus, a rare combination that needs more attention.
research A Success Story of Cerebral Arteriovenous Malformation (AVM) Treated with Stereotactic Radiosurgery (SRS) in Bangladesh
Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.
research 44047 Long Term Real-World Treat-to-Target Skin Clearance and Maintenance of Response with Risankizumab in Patients with Moderate to Severe Psoriasis From the CorEvitas Psoriasis Registry
Risankizumab effectively treats and maintains skin clearance in moderate-to-severe psoriasis.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Finasteride Induces Epigenetic Alteration of TMPRss2 Gene Expression: A Potential role in Severe Acute Respiratory Syndrome-Corona Virus-2 Inhibition
Finasteride may help reduce COVID-19 infection by altering a key gene.
research Leflunomide for the treatment of trichodysplasia spinulosa in a liver transplant recipient
Leflunomide successfully treated a rare skin condition in a liver transplant patient.
research A CASE OF CONTACT DERMATITIS WITH CONCURRENT INFECTION OF BABESIOSIS AND EHRLICHIOSIS IN A 5-YEAR-OLD GERMAN SHEPHERD BITCH
The dog fully recovered after treatment for skin and tick-borne infections.
research Type II Vitamin D Dependent Rickets: A Case Report
Hair loss can be a key sign of a rare type of rickets when vitamin D treatment doesn't work and advanced tests aren't available.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research A 21-Day-Old Boy with an Annular Eruption
A 21-day-old baby had a skin rash that didn't improve with cream and wasn't caused by a fungus.