A 33-year-old woman presented with a 5-year history of a relapsing erythematous, indurated plaque on the left cheek. Herpes simplex virus (HSV) immunostain revealed the presence of HSV in the follicular and perifollicular keratinocytes. After oral treatment with valaciclovir for a period of 3 months the lesion disappeared without leaving a scar. At the last check-up, no recurrence had occurred. Herpes folliculitis has various clinical presentations. In rare cases it mimics a pseudolymphoma, as was the case for this patient. A viral aetiology, such as HSV or varicella-zoster virus, should be considered in patients with folliculitis, especially when the condition does not respond to antibacterial and antifungal therapy.
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J Med Genet
January 2025
Department of Neurosciences, Université de Montréal, Montreal, Québec, Canada
Background: Tuberous sclerosis complex (TSC) is a genetic disease characterised by the growth of benign tumours. The Tuberous sclerosis Associated Neuropsychiatric Disorders (TAND) Checklist is used to identify patient-reported neurocognitive deficits. Patients may, however, under-recognise mild cognitive impairment.
View Article and Find Full Text PDFEur Stroke J
January 2025
Row Fogo Centre for Research into Ageing and the Brain, and UK Dementia Research Institute, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.
Purpose: Cerebral small vessel disease (cSVD) is a highly prevalent disorder leading to physical, cognitive and functional decline. We report key barriers in the management of individuals with cSVD, the potential benefit of cSVD-dedicated health services, and evidence from existing models of care for adults with cSVD.
Methods: We examined information from a scientific seminar developed between seven experts in cSVD during the eighth European Stroke Organisation Conference that discussed the optimal health care for adults with cSVD and what health services dedicated to cSVD should include.
Eur J Hum Genet
January 2025
Murdoch Children's Research Institute, Melbourne, VIC, Australia.
People from refugee and migrant backgrounds often face poor experiences and outcomes in healthcare, and genetic healthcare is no exception. Understanding whether and how these health inequities manifest is an important step towards equitable perinatal genetic screening for genetic or chromosomal conditions (offered preconception, prenatally, or during the newborn period). A scoping review was conducted to review international evidence of perceptions and experiences of perinatal genetic screening for people from migrant and refugee backgrounds.
View Article and Find Full Text PDFEpidemiol Mikrobiol Imunol
December 2024
Invasive meningococcal diseases (IMD) caused by Neisseria meningitidis are generally rare. They affect mostly selected age categories and risk groups of patients (in terms of age, comorbidities, or applied therapy), and the immune system and its defects may play an important modifying role. Meningococcal infections could be the first and only clinical sign of unrecognised immunodeficiency.
View Article and Find Full Text PDFLancet Oncol
January 2025
Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:
Background: Gliomas are a major cause of cancer-related death among children, adolescents, and young adults (age 0-40 years). Primary mismatch repair deficiency (MMRD) is a pan-cancer mechanism with unique biology and therapeutic opportunities. We aimed to determine the extent and impact of primary MMRD in gliomas among children, adolescents, and young adults.
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