A case is presented of benign pulmonary hamartoma causing episodes of hemoptysis. This is an extremely unusual manner of presentation for such lesions.
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http://dx.doi.org/10.1002/jso.2930330111 | DOI Listing |
Curr Issues Mol Biol
January 2025
Protosera Inc., Settsu-Shi 566-0002, Osaka, Japan.
Mutations in TSC1 or TSC2 in axons induce tuberous sclerosis complex. Neurological manifestations mainly include epilepsy and autism spectrum disorder (ASD). ASD is the presenting symptom (25-50% of patients).
View Article and Find Full Text PDFEur Clin Respir J
January 2025
Department of Respiratory Medicine, Odense University Hospital, Odense, Denmark.
Background: Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.
Methods: By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.
JACC Case Rep
January 2025
Department of Medical and Surgical Sciences-DIMEC, IRCCS Policlinico S. Orsola-Malpighi, University of Bologna, Bologna, Italy.
We present the case of a young patient with an apical cardiac mass exhibiting an anterior pseudonecrosis pattern on the electrocardiogram. Cardiac ultrasound revealed a hyperechoic mass infiltrating the apical wall. However, cardiac magnetic resonance ruled out signs of infiltration and demonstrated significant contrast uptake.
View Article and Find Full Text PDFS D Med
October 2024
Department of Surgery, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.
A hamartoma is a benign tumor of tissue resembling the site of origin, despite exhibiting disorganized architecture. While benign, symptoms typically arise from mass effects. They are often found in the lower gastrointestinal tract and are a rare finding in the pharynx and larynx.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia; Department of Pathology and Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia. Electronic address:
Introduction: Retinal capillary hemangioma (RCH) is a benign vascular hamartoma that can occur sporadically or as a manifestation of Von Hippel-Lindau (VHL) disease. If left untreated, it results in adverse ocular complications depending on its location and eventual visual loss.
Case Presentation: We present a 50-year-old man who was a known case of VHL with history of left eye vision loss in the left eye at the age of 30 years.
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