Cardiac rhabdomyoma: a rare feature of Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal disorder, primarily characterised in adults by cutaneous features, pulmonary cysts that predispose to spontaneous pneumothorax and renal tumours. The syndrome is caused by pathogenic variants in the tumour suppressor gene, which plays a role in the mammalian target of rapamycin (mTOR) signalling pathway. We present the case of a newborn infant diagnosed with BHDS, who died of sudden cardiac death due to complications from cardiac rhabdomyoma.

Diagnosis of renal tumors in Birt-Hogg-Dube syndrome: Clinical presentation and risk factors in a single-center retrospective cohort.

Background: Birt-Hogg-Dube (BHD) syndrome is a rare genetic condition associated with the development of renal tumors. This study aims to determine typical age ranges for detecting renal abnormalities, risk factors for tumor development, and long-term outcomes based on current surveillance strategies.

Methods: A single-center multi-site retrospective cohort study was performed on all patients with BHD diagnosed from 2000 to 2023.

Hereditary renal mass syndromes: a pictorial review.

Hereditary renal mass syndromes, although rare, account for at least 3-5% of kidney cancers and significantly impact affected families. Accurate diagnosis and management by radiologists are crucial as these syndromes often present at imaging with both renal and extra-renal manifestations. The radiologist may be the first to recognize these stigmata at imaging, some of which satisfy major features for diagnosis and obviate the need for genetic testing.

Diffuse Cystic Lung Disease: A Clinical Guide to Recognition and Management.

Topic Importance: Diffuse cystic lung diseases (DCLDs) represent a group of pathophysiologically heterogeneous entities that share a common radiologic phenotype of multiple thin-walled pulmonary cysts. DCLDs differ from the typical fibroinflammatory interstitial lung diseases in their epidemiology, clinical presentation, molecular pathogenesis, and therapeutic approaches, making them worthy of a distinct classification. The importance of timely and accurate identification of DCLDs is heightened by the impact on patient management including recent discoveries of targeted therapeutic approaches for some disorders.

Characterizing the tumor suppressor activity of FLCN in Birt-Hogg-Dubé syndrome through transcriptiomic and proteomic analysis.

Birt-Hogg-Dubé (BHD) syndrome patients are uniquely susceptible to all renal tumour subtypes. The underlying mechanism of carcinogenesis is unclear. To study cancer development in BHD, we used human proximal kidney (HK2) cells and found that long-term folliculin knockdown was required to increase their tumorigenic potential, forming larger spheroids in non-adherent conditions.