AI Article Synopsis
- Birt-Hogg-Dubé syndrome is an extremely rare genetic disorder that leads to the development of skin tumors called fibrofolliculomas, lung cysts causing recurrent pneumothorax, and kidney tumors.
- The case report discusses a 56-year-old woman with a complex medical history who presented symptoms like a widespread rash, fever, and body aches, prompting further investigation.
- A biopsy showed specific tissue reactions, and despite normal autoimmune tests, whole genome sequencing detected a harmful mutation in the folliculin gene, confirming the diagnosis of Birt-Hogg-Dubé syndrome.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11129575 | PMC |
| http://dx.doi.org/10.1177/2050313X241251759 | DOI Listing |
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