: von Willebrand disease (VWD) type 2B is a rare bleeding disorder, presenting with moderate-to-severe lifelong bleeding. We present the case of a 61-year-old woman who was misdiagnosed as immune thrombocytopenic purpura during her three pregnancies resulting in a delayed diagnosis of VWD type 2B. This genetically confirmed diagnosis resulted in testing and the establishment of the diagnosis in her otherwise asymptomatic adult son as well. VWD may not be diagnosed till beyond mid adulthood in women with thrombocytopenia previously attributed to pregnancy and should be considered as a differential in female patients developing thrombocytopenia less than 100 × 10/μl with an increased bleeding assessment tool score.
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http://dx.doi.org/10.1097/MBC.0000000000000847 | DOI Listing |
Virchows Arch
December 2021
Department of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine malignancy of the skin. The cell of origin of MCC is thus far unknown and proposed cells of origin include Merkel cells, pro-/pre- or pre-B cells, epithelial stem cells, and dermal stem cells. In this study, we aimed to shed further light on the possibility that a subset of MCC tumors arise from epithelial stem cells of the skin by examining the expression of hair follicle and epidermal stem cell markers in MCC and normal human skin.
View Article and Find Full Text PDFAm J Med Genet A
June 2021
The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
J Transl Med
October 2020
Institute of Neurophysiology, Medical Faculty Mannheim, University Heidelberg, Heidelberg, Germany.
J Eur Acad Dermatol Venereol
February 2019
Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Helsinki, Finland.
Transplantation
January 2016
1 Transplantation Laboratory, University of Helsinki, Helsinki, Finland. 2 Department of surgery, Oulu University Central Hospital, Oulu, Finland. 3 Transplantation and Liver Surgery Unit, Helsinki University Central Hospital, Helsinki, Finland. 4 Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.
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