research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
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540-570 / 1000+ resultsresearch SnapshotDx Quiz: April 2022
Discoid Lupus Erythematosus causes scalp plaques that can lead to hair loss, and antimalarial drugs are effective treatments.
research A Case Report of Cronkhite-Canada Syndrome Complicated by Membranous Nephropathy
Rituximab may be an effective treatment for Cronkhite-Canada syndrome with kidney disease.
research Medication Clusters at Hospital Discharge and Risk of Adverse Drug Events at 30-days Post-Discharge: A Population-based Cohort Study of Older Adults
Certain groups of medications given when leaving the hospital are linked to a higher risk of negative drug reactions within 30 days, especially in older adults with respiratory issues.
research Treatment of erythromelanosis follicularis faciei et colli with a 595‐nm pulsed dye laser
The 595-nm pulsed dye laser effectively reduces symptoms of EFFC with minimal side effects.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report
Topical minoxidil and tretinoin improved hair growth in a girl with EDSS1 over two years.
research Connective Tissue Disorders
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
research Keratitis-Ichthyosis-Deafness Syndrome Caused by Missense Mutation in GJB2 Encoding Connexin 26 in a Chinese Patient
A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
research Incidence and management of cutaneous toxicities associated with cetuximab
Cetuximab often causes skin rashes, and managing these is important for cancer treatment.
research Telogen effluvium: a comprehensive review
The document concludes that Telogen Effluvium is a hair loss disorder that can be assessed with the modified wash test and may be treated with clobetasol foam, with patient management being important.
research The Case ∣ Fever, rash, and positive Ehrlichia antibodies
The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
research The Roles of EDA2R in Ageing and Disease
EDA2R is a key gene linked to ageing and diseases, and targeting it may help treat conditions like hair loss and chronic diseases.
research Demodex cati and feline immunodeficiency virus co-infection in a cat
The cat was put to sleep due to recurring infections.
research Dental considerations in acrodermatitis enteropathica: A report of two cases
Acrodermatitis enteropathica can be linked to dental issues, so thorough dental exams are important.
research USE OF RITLECITINIB FOR THE TREATMENT OF ALOPECIA AREATA
Ritlecitinib effectively treats alopecia areata in patients 12 and older with fewer side effects.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research IMMUNOLOGICAL AND GENETIC ASPECTS OF HEREDITARY ANTIBODY DEFICIENCIES
Children with frequent severe infections and low antibodies should be checked for immune deficiencies.
research Dermatologic adverse events in EGFR-TKIs: A real-world analysis.
EGFR-TKIs can cause unexpected skin, nail, and hair issues.
research Treatment Survival and Reasons for Discontinuation in Patients with Recalcitrant Folliculitis Decalvans
Effective immunomodulatory treatments and a personalized approach are crucial for managing severe folliculitis decalvans.
research Aggressive treatment in paediatric or young patients with drug-induced hypersensitivity syndrome (DiHS)/drug reaction with eosinophilia and systemic symptoms (DRESS) is associated with future development of type III polyglandular autoimmune syndrome
Aggressive treatment in young patients with certain drug reactions may lead to multiple autoimmune diseases later.
research 52342 Optimizing In-Person Visits with Teledermatology
Teledermatology can effectively treat certain skin conditions with topical treatments, reducing the need for in-person visits.
research Impact of electrical impedance spectroscopy on dermatologists' number needed to biopsy metric and biopsy decisions for pigmented skin lesions
Electrical impedance spectroscopy improves biopsy accuracy and efficiency for skin lesions.
research Síndrome PRIDE: una práctica forma de identificar los efectos adversos cutáneos de los inhibidores del EGFR
PRIDE syndrome helps identify skin side effects from EGFR inhibitors like erlotinib.
research Cloning of the human phenol sulfotransferase gene family: three genes implicated in the metabolism of catecholamines, thyroid hormones and drugs
Scientists identified three genes important for processing certain brain chemicals, thyroid hormones, and medications.
research BindingDB Entry 50021519: Discovery of (2S)-N-(6-Cyano-5-(trifluoromethyl)pyridin-3-yl)-3-(6-(4-cyanophenyl)-3,6-diazabicyclo[3.1.1]heptan-3-yl)-2-hydroxy-2-methylpropanamide as a Highly Potent and Selective Topical Androgen Receptor Antagonist for Androgenetic Alopecia Treatment.
research MINOXIDIL INDUCED PLEURO-PERICARDIAL EFFUSION IN END-STAGE RENAL DISEASE
research 068 Association of systemic involvement with skin morphology assessed by multiphoton microscopy in pseudoxanthoma elasticum
Skin changes in Pseudoxanthoma elasticum patients can indicate the severity of related health issues.
research Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED
Ruxolitinib reduced inflammation and improved symptoms in APECED patients but may cause anemia and weight gain.