Birt–Hogg–Dubé syndrome: a case report and a review of the literature

Abstract

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Objective: To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies. Design: Literature review and case story. Results: A PubMed and Embase search identified 330 papers. BHDS is characterized by small benign tumors in the skin, spontaneous pneumothoraces caused by cysts in the lungs and a seven-fold increased risk of renal cancer. A case story of a young female patient presenting with pneumothorax and a family history of recurrent pneumothoraces in many relatives illustrates how the history and the diagnostic work up resulted in a diagnosis of BHDS. Conclusion: BHDS is a rare inherited disorder. In patients with spontaneous pneumothorax or cystic lung disease without any obvious explanation, BHDS should be considered. Concomitant skin manifestations, a family history of familiar pneumothorax, renal cancers and skin manifestations supports the suspicion of BHDS. Early diagnosis is important in order to subject patients to systematic screening for renal cancers. A radiological surveillance strategy for renal cancer is proposed.

Childhood pneumothorax in Birt‐Hogg‐Dubé syndrome: A cohort study and review of the literature

“…Due to incomplete penetrance of clinical manifestations and marked variability in expression, BHD is generally assumed to be underdiagnosed. Symptomatic as well as nonsymptomatic individuals with BHD are advised regular renal cancer surveillance from age 20 years and specialized management of SP in order to reduce recurrence rate (Jensen et al., ; Menko et al., ).…”

Recurrent renal cancer in Birt–Hogg–Dubé syndrome: A case report

“…Skin manifestations are also common in BHDS and are seen in approximately 58–90% of patients [21] . The involvement of the skin is benign, and no follow up is needed [24] .…”

“…And it is important that all patients suspected of having BHD should be offered genetic testing to confirm the diagnosis [26] . Infact, if a pathogenic FLCN mutation is identified, all at-risk relatives should be offered genetic counseling and predictive testing [24] .…”

A Case of Birt-Hogg-Dubé Syndrome and Multiple Intracranial Aneurysms

“…More than 600 families have been diagnosed with BHD syndrome, but there are few reports in the literature describing an association between BHD syndrome and intracranial vascular pathology [1]. So far, these cases include two patients with intracranial aneurysms, one with an arteriovenous malformation (AVM) and one with carotid aplasia [2]. There is a hypothesized link between the BHD gene mutation and vascular pathology, although this is yet to be proven definitively [3][4][5].…”