Birt-Hogg-Dubé Syndrome: A Rare Genodermatosis Presenting as Skin Papillomas.

The authors present a rare case of Birt-Hogg-Dubé (BHD) syndrome that presented primarily as an aesthetic case. Previous providers failed to accurately diagnose BHD, despite the patient's history of pneumothoraces. This female patient complained of numerous recurrent, small skin-colored growths on the face and neck and patchy hypopigmentation from the multiple treatments she had to undergo for her "bumpy skin." She also suffered 4 spontaneous pneumothoraces. Following histopathologic and genetic testing, the patient was diagnosed with BHD. Computed tomography and ultrasound scans revealed multiple cysts in both lungs and an angiomyolipoma in both kidneys. This patient had undergone a variety of treatments to aesthetically remove and heal her skin bumps from several healthcare providers, all of whom had misdiagnosed her condition.

Cystic lung disease in Birt-Hogg-Dubé syndrome. A case series.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited disease caused by mutations in the folliculin (FLCN) gene. It is characterized by lung cysts, skin fibrofolliculomas and an increased risk for the development of renal cancer, especially chromophobe. Lung cysts in the context of BHDS are typically lower lobe predominant, paramediastinal, in relation to the fissures and often elliptical shaped. Skin manifestations can easily go unnoticed. Respiratory physicians need to have a high degree of vigilance as they can be the first to suspect the disease in the setting of diffuse cystic lung disease. Meticulous skin examination and referral to a dermatologist is of utmost importance as it can establish the diagnosis in the least invasive way. Correct diagnosis is crucial as it may allow for genetic counseling to the affected family and the implementation of a monitoring strategy for early detection of renal cancer.

Evaluation of liver fibrosis: "Something old, something new ".

Hepatic fibrogenesis may gradually result to cirrhosis due to the accumulation of extracellular matrix components as a response to liver injury. Thus, therapeutic decisions in chronic liver disease, regardless of the cause, should first and foremost be guided by an accurate quantification of hepatic fibrosis. Detection and assessment of the extent of hepatic fibrosis represent a challenge in modern Hepatology. Although traditional histological staging systems remain the "best standard", they are not able to quantify liver fibrosis as a dynamic process and may not accurately substage cirrhosis. This review aims to compare the currently used non-invasive methods of measuring liver fibrosis and provide an update in current tissue-based digital techniques developed for this purpose, that may prove of value in daily clinical practice.