Research Topics
| A BygumSummaryAffiliation: Odense University Hospital Country: Denmark Publications
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Detail Information
Publications
Generalized and naevoid epidermolytic ichthyosis in denmark: clinical and mutational findingsAnette Bygum
Department of Dermatology and Allergy Centre, Odense University Hospital, DK 5000 Odense C, Denmark E mail
Acta Derm Venereol 93:309-13. 2013..In conclusion epidermolytic ichthyosis is a rare disease with a prevalence of approximately 1 in 350,000 in Denmark and a high percentage of de novo mutations (75%). We identified 4 novel disease-causing mutations...
The hereditary angioedema burden of illness study in Europe (HAE-BOIS-Europe): background and methodologyAnette Bygum
HAE Centre Denmark, Department of Dermatology and Allergy Centre, Odense University Hospital, 5000 Odense C, Denmark
BMC Dermatol 12:4. 2012..The purpose of the HAE Burden of Illness Study-Europe (HAE-BOIS-Europe), the development and methodology of which is described here, is to better understand the management and impact of HAE from the patient perspective in Europe...
HAE international home therapy consensus documentHilary J Longhurst
Department of Immunology, Barts and The London NHS Trust, London, UK
Allergy Asthma Clin Immunol 6:22. 2010..It represents the opinion of the authors who have a wide range of expert experience in the management of HAE...
Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutationAnette Bygum
Department of Dermatology and Allergy Centre, Odense University Hospital, 5000 Odense, Denmark
BMC Med Genet 12:79. 2011..Epidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated...
Hereditary angio-oedema in Denmark: a nationwide surveyA Bygum
Department of Dermatology and Allergy Centre, Odense University Hospital, University of Southern Denmark, 5000 Odense C, Denmark
Br J Dermatol 161:1153-8. 2009..The diagnosis is challenging as the disease can have a variety of clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated...
Self-administration of intravenous C1-inhibitor therapy for hereditary angioedema and associated quality of life benefitsAnette Bygum
Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark
Eur J Dermatol 19:147-51. 2009..Self-administration of C1-INH improved QOL on both physical and psychological parameters. Patients were able to resume a normal life without restrictions caused by the condition...
[Trigeminal trophic syndrome--a tough diagnostic nut to crack]Mette Wanscher Kjaerskov
Dermato Venerologisk Afdeling I, Odense Universitetshospital, DK 5000 Odense
Ugeskr Laeger 171:437. 2009..She attended several different specialized physicians and multiple biopsies were performed before attention was brought to the syndrome due to a history of trigeminal nerve damage combined with the aforementioned triad...
[Red painful feet after visiting a swimming bath]Anette Bygum
Dermato Venerologisk Afdeling I, Odense Universitetshospital, DK 5000 Odense C
Ugeskr Laeger 171:325-6. 2009..Diagnostic considerations are briefly reviewed. Sufficient attention to the characteristic clinical appearance could prevent unnecessary diagnostic procedures and hospitalisation...
Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtypeAnette Bygum
Department of Dermatology, Odense University Hospital, Odense, Denmark
J Am Acad Dermatol 59:S71-4. 2008..Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period...
[Two cases of Richner-Hanhart syndrome (oculocutaneous tyrosinemia)]Anette Bygum
Dermato Venerologisk Afdeling I, Odense Universitetshospital, DK 5000 Odense C
Ugeskr Laeger 170:655. 2008..A few days after instituting tyrosine lowering therapy, her eye symptoms disappeared and she could walk without pain. Her brother was later diagnosed with the same disease...
An audit of thiopurine methyltransferase genotyping and phenotyping before intended azathioprine treatment for dermatological conditionsT Vestergaard
Department of Dermatology, Odense University Hospital, Odense, Denmark
Clin Exp Dermatol 35:140-4. 2010..Determining thiopurine methyltransferase (TPMT) genotype and phenotype before azathioprine treatment predicts which patients are most likely to develop myelosuppression...
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tardaL Christiansen
Department of Clinical Biochemistry and Clinical Genetics, Odense University Hospital, Denmark
Scand J Clin Lab Invest 60:611-5. 2000..However, possible disease-related UROD mutations were identified in 24% of the examined patients, indicating that genetic analysis of PCT patients may improve differentiation between familial and sporadic PCT cases...
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutationAnette Bygum
Department of Dermatology, Odense University Hospital, 5000 Odense C, Denmark
Acta Derm Venereol 85:152-5. 2005..This patient is the first Danish patient in whom the keratitis-ichthyosis-deafness syndrome has been verified by mutation analysis...
