There is no argument that understanding the geometry around optimal configuration is an important component for efficiency and injury prevention (Wisbey-Roth 2009), and some leading “Bike-Fit” proponents argue the neuromuscular perspective (Steve Hogg 2007). There are also endless references to optimal pedalling technique“spinning the pedals”, “elegant”, “wipe the mud of the shoe”, “like a duck...

Birt-Hogg-Dubé syndrome is a rare autosomal dominant condition caused by a germline mutation in the folliculin gene, which is characterized by skin fibrofolliculomas, multiple lung cysts and renal cancer. The clinical expression of the syndrome is highly variable, with recurrent pneumothoraces due to ruptured lung cysts in many cases. We report a patient with pneumomediastinum and cervico-facia...

1Department of Anesthesiology, erasmus Medical Center, Rotterdam, The netherlands; 2Department of Medicine, University of British Columbia and The James hogg iCAPTURe Center, st. Paul’s hospital, Vancouver, Canada; 3Department of Pulmonology, erasmus Medical Center, Rotterdam, The netherlands; 4Department of Cardiology, Leiden University Medical Center, Leiden, The netherlands; 5Department of C...

Article: Subtypes of Medulloblastoma have Distinct Developmental Origins. Gibson P, Tong Y, Robinson G, Thompson MC, Currle DS, Eden C, Kranenburg TA, Hogg T, Poppleton H, Martin J, Finkelstein D, Pounds S, Weiss A, Patay Z, Scoggins M, Ogg R, Pei Y, Yang ZJ, Brun S, Lee Y, Zindy F, Lindsey JC, Taketo MM, Boop FA, Sanford RA, Gajjar A, Clifford SC, Roussel MF, McKinnon PJ, Gutmann DH, Ellison D...

We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed clinically nor genetically. Coincidentally, Birt Hogg Dubé syndrome (BHD) had been previously diagnosed in members of the extended family; this prompted a diagnostic re-evaluation of the child who was found to have the kn...

A 56-year-old Caucasian male presented with a fast-growing subcutaneous tumour on the right shoulder over the last 6 months. On examination, this was a mobile and firm tumour of 4 cm diameter (Figure 1). The patient was also concerned about cosmetic disfigurement from multiple small facial papules. These had been growing gradually over the last 3 years. The past medical history revealed six epi...

IMPORTANCE The differential diagnosis of extensive open comedones includes inherited genetic syndromes and several acquired conditions. Birt-Hogg-Dube syndrome (BHD) is not typically included in the differential diagnosis of syndromes with comedonal lesions. Given the potentially life-threatening systemic complications associated with BHD, early recognition and diagnosis of the condition is imp...

Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant genodermatosis caused by mutations in the folliculin gene (FLCN), which is located within the chromosomal band 17p11.2 (1). Patients with BHDS are prone to fibrofolliculomas, trichodiscomas, and acrochordons on the face, neck, and upper trunk; renal tumors; pulmonary cysts; and spontaneous pneumothorax (2-4). The pathogenesi...