A5051481349- Genetic and rare skin diseases.
- Cancer and Skin Lesions
- Nail Diseases and Treatments
- Hedgehog Signaling Pathway Studies
- Skin and Cellular Biology Research
- Infectious Encephalopathies and Encephalitis
- Myofascial pain diagnosis and treatment
- Infectious Diseases and Mycology
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Cellular Mechanics and Interactions
- melanin and skin pigmentation
- Cervical Cancer and HPV Research
- Urticaria and Related Conditions
- Dermatologic Treatments and Research
- Genomic variations and chromosomal abnormalities
- Autoimmune Bullous Skin Diseases
- Plant Pathogens and Fungal Diseases
- Peripheral Nerve Disorders
- Spine and Intervertebral Disc Pathology
- Autoimmune Neurological Disorders and Treatments
- dental development and anomalies
- Herpesvirus Infections and Treatments
- Fungal Infections and Studies
- Tumors and Oncological Cases
- Congenital Ear and Nasal Anomalies
Aarhus University Hospital
2020-2024
Aarhus University
2024
Knowledge of the epidemiology and clinical characteristics varicella zoster virus (VZV) encephalitis remains limited.Nationwide prospective cohort study adults treated for microbiologically confirmed VZV at Danish departments infectious diseases from 2015 to 2019. Modified Poisson regression analysis was used compute adjusted relative risks (RRs) unfavorable outcome.We identified 92 (49% female) with encephalitis, yielding an incidence 5.3/1 000 per year (95% CI, 4.2-6.6). Median age 75...
Ectodermal dysplasias constitute a group of rare genetic disorders the skin and appendages with hypodontia, hypotrichosis, hypohidrosis as cardinal features. There is lack population-based research into epidemiology ectodermal dysplasias.
The clinical presentation of invasive dermatophytosis often mimics other more common skin diseases. We report a case severe deep caused by Trichophyton mentagrophytes initially interpreted as herpetiform rash. diagnosis was established based on fungal culturing and molecular detection using RT-PCR in addition to response treatment oral terbinafine. Our emphasizes the importance testing at an early point accelerate initiation correct treatment. 2012 Elsevier Ltd. All rights reserved.
Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation characterized by distinctive facial, ectodermal, and skeletal features. TRPS divided into type I/III caused pathogenic variants in TRPS1 II contiguous gene deletions also spanning EXT1 RAD21. Due to its rarity, knowledge of the clinical course remains limited. Therefore, we collected case series 15 I patients (median age at diagnosis [interquartile range: 10–18] years, 11 females [73%]) seen Aarhus University Hospital, Denmark,...
ABSTRACT Background Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants PORCN . Methods We characterized case series of four genetically confirmed FDH patients (three one male) at Aarhus University Hospital, Denmark. estimated prevalence from our local cohort nationwide registry data. Results Three had...
Linear IgA bullous dermatosis (LABD) is a rare autoimmune vesiculobullous disease causing blistering lesions of the skin and mucosa.1Venning V.A. disease: clinical presentation, diagnosis, pathogenesis.Immunol Allergy Clin North Am. 2012; 32: 245-253,vihttps://doi.org/10.1016/j.iac.2012.04.004Abstract Full Text PDF PubMed Scopus (15) Google Scholar LABD typically presents in either early childhood or adulthood.2Fortuna G. Marinkovich M.P. immunoglobulin A dermatosis.Clin Dermatol. 30:...
This cross-sectional study estimates the prevalence of genetically confirmed cases pachyonychia congenita in Denmark.
Abstract Background Incontinentia pigmenti (IP) is an X-linked dominant multisystemic disorder caused by pathogenic variants in the IKBKG gene. Population-based research into epidemiology of IP lacking. Methods This nationwide cross-sectional study from Jan 1st, 1995 to August 25th, 2021, searched Danish National Patient Registry (DNPR), Database Rare Genetic Diseases (RareDis) and Genodermatosis identify patients recorded with a diagnosis IP. search was followed validation collection...