{Reference Type}: Case Reports
{Title}: Urticarial vasculitis and systemic symptoms as initial presentation of Birt-Hogg-Dubé syndrome: A case report.
{Author}: Babalola O;Steinwehr D;Kanchustambham V;
{Journal}: SAGE Open Med Case Rep
{Volume}: 12
{Issue}: 0
{Year}: 2024
暂无{DOI}: 10.1177/2050313X241251759
{Abstract}: Birt-Hogg-Dubé syndrome, an extremely rare genetic disorder, is characterized by the development of fibrofolliculomas, lung cysts and subsequent recurrent pneumothorax, and kidney neoplasia. This report highlights the case of a 56-year-old female with a history of right vestibular schwannoma status post stereotactic radiotherapy and vulva bartholin's gland carcinoma who was initially evaluated by primary care for a 6-month history of intermittent, red, raised, widespread rash accompanied by fever, chills, and body aches. A punch biopsy of the rash was performed, which was notable for an urticarial tissue reaction with focal changes of leukocytoclasia and negative direct immunofluorescence. Laboratory tests, which included an autoimmune genetic and periodic fever panel, were unremarkable. Whole genome sequencing returned positive for a pathogenic variant in folliculin gene, consistent with a diagnosis of Birt-Hogg-Dubé syndrome.