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Journal of the European Academy of... May 2021Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF).
BACKGROUND
Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF).
OBJECTIVE
To determine the clinical and histological features of MiF.
METHODS
A retrospective analysis was conducted on 133 adults with TSC. Photography was used to characterize the appearance and location of MiF. Histological features in five skin samples from four individuals were evaluated by a board-certified dermatopathologist.
RESULTS
MiF were observed in 19 of 133 (14%) individuals with TSC. MiF were 1- to 3-mm skin-coloured, sessile papules scattered on the back and rarely buttocks or thighs. Most were scattered in a bilaterally symmetric distribution, but others were asymmetric or associated with a shagreen patch. Histological features of MiF included expansion of the papillary and periadnexal dermis with variable hamartomatous abnormalities involving adjacent epithelial components.
CONCLUSIONS
MiF are distinct from other cutaneous lesions in TSC such as shagreen patches and angiofibromas. Recognition of this entity is important in defining the spectrum of TSC disease and reassuring individuals with TSC that these lesions are benign.
Topics: Adult; Angiofibroma; Fibroma; Humans; Nevus; Retrospective Studies; Tuberous Sclerosis
PubMed: 33565654
DOI: 10.1111/jdv.17161 -
Actas Dermo-sifiliograficas Apr 2012Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts,... (Review)
Review
Birt-Hogg-Dubé syndrome is a rare autosomal dominant genodermatosis that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The most common histological types found in renal tumors from patients with the syndrome are oncocytoma-chromophobe carcinoma hybrids and pure forms of chromophobe carcinoma, oncocytic carcinoma, and clear cell or papillary cell carcinoma. The syndrome is linked to mutations in the FLCN gene, which encodes folliculin and is preferentially expressed in the skin, kidney, and lung. The syndrome can exhibit a high degree of clinical variability, and the skin lesions that are a warning sign for dermatologists may be absent in up to 70% of cases. Consequently, although skin lesions and mutations in FLCN are the main diagnostic criteria for Birt-Hogg-Dubé syndrome, a diagnosis can be made based on noncutaneous manifestations, with or without known family history of the syndrome, even in the absence of histological confirmation of fibrofolliculomas or trichodiscomas.
Topics: Adenoma, Oxyphilic; Birt-Hogg-Dube Syndrome; Carcinoma, Renal Cell; Cysts; Diagnosis, Differential; Fibroma; Genes, Dominant; Germ-Line Mutation; Humans; Kidney Neoplasms; Lung Diseases; Pneumothorax; Proto-Oncogene Proteins; Skin Neoplasms; Tumor Suppressor Proteins
PubMed: 21937013
DOI: 10.1016/j.ad.2011.07.009 -
Annals of Translational Medicine Mar 2021Due to the variety of clinical presentation, some tumors may be concealed and easily misdiagnosed, leading to delays in management. We report a series of patients who...
BACKGROUND
Due to the variety of clinical presentation, some tumors may be concealed and easily misdiagnosed, leading to delays in management. We report a series of patients who initially presented to an Ophthalmic Clinic with ocular symptoms and were subsequently diagnosed with extraocular tumors.
METHODS
Patients who presented to the ophthalmic outpatient clinic at the Joint Shantou International Eye Center with ocular symptoms between April 2013 and December 2019 and were subsequently diagnosed with intracranial or systemic tumors were reviewed retrospectively. Clinical data, including ocular symptoms and signs, ophthalmic and systemic imaging examinations, and the results of tumor biopsies were collected and analyzed.
RESULTS
Twenty-three patients were included in this study, of which 16 were female (69.6%) and 7 were male (30.4%). Chief complaints at the first visit included visual loss (n=20), proptosis (n=2), and diplopia (n=1). Ocular examination revealed disc pallor (n=8) and swelling (n=3), choroidal mass with or without chorioretinal detachment (n=5), and proptosis (n=2). Visual field (VF) examination was performed in 11 patients of which hemianopia (n=4) and non-specific field loss (n=7) were noted. Brain CT or MRI, together with histopathological findings from surgical biopsies confirmed the diagnosis of the intracranial tumors in 18 cases, including pituitary adenoma (n=7), meningioma (n=2), oligodendroglioma (n=1), sellar tumor (n=1), suprachiasmatic arteriovenous aneurysm (n=1), orbital glioma (n=1), multiple intracranial tumors (n=1), and sphenoid ossifying fibroma (n=1). Nasopharyngeal carcinoma (NPC) (n=3) was diagnosed with brain MRI and nasal endoscopy. Five patients were confirmed as choroidal metastasis secondary to lung cancer (n=3), hepatoma (n=1), and breast cancer (n=1).
CONCLUSIONS
Patients with extraocular tumors may present initially to an ophthalmologist with ocular symptoms. It is important to identify and appropriately manage these patients to avoid unnecessary delays in future treatment.
PubMed: 33850894
DOI: 10.21037/atm-21-830 -
Case Reports in Dentistry 2022We present the first, to our knowledge, case of a dedifferentiated low-grade central osteosarcoma (LCOS) of the mandible. A 48-year-old Japanese woman underwent...
We present the first, to our knowledge, case of a dedifferentiated low-grade central osteosarcoma (LCOS) of the mandible. A 48-year-old Japanese woman underwent enucleation under general anesthesia after a diagnosis of ossifying fibroma. At the second recurrence, the pathological diagnosis after biopsy was of sarcoma with MDM2(+) and CDK4(+) immunohistochemical staining results. Hemimandibulotomy, supraomohyoid neck dissection, and free-flap reconstruction with a rectus abdominal flap were performed. A retrospective reevaluation of the first specimen with additional immunohistochemical staining for MDM2 and CDK4 yielded a final diagnosis of dedifferentiated LCOS. The patient showed no recurrence or lung metastasis 3 years after the final surgery.
PubMed: 35096429
DOI: 10.1155/2022/9321728 -
Anales de Pediatria (Barcelona, Spain :... Jun 2003Solitary fibrous tumors of the pleura are uncommon mesenchymal tumors that have been reported in adults. There are very few cases in children. These tumors are...
Solitary fibrous tumors of the pleura are uncommon mesenchymal tumors that have been reported in adults. There are very few cases in children. These tumors are considered benign but their behavior is often unpredictable because they can invade nearby structures and transform into malignant variants after several years. Their clinical presentation is diverse but generally asymptomatic and they are detected incidentally in routine radiologic studies. Prognosis depends firstly on resectability of the tumour and secondly on its size, mitotic count, polymorphism, and necrosis within the tumour. Surgical resection is usually curative. Long-term follow-up is recommended because local recurrences can occur after surgery. We report the case of an asymptomatic 15-year-old girl with a giant thoracic mass revealed incidentally on a chest radiograph. Physical examination revealed thoracic asymmetry and no sounds of breathing were found in the right lung. Computerized tomography and magnetic resonance images showed the giant size of the mass. Preoperative fine needle biopsy was performed. Intraoperative biopsy confirmed the diagnosis. Although histologically benign, the tumors may enlarge rapidly. In the present case, because of the localization and size of the tumor, the patient was at increased risk. The tumour was resected and the postoperative course was uneventful. At present our patient remains under long term annual follow-up.
Topics: Adolescent; Female; Fibroma; Humans; Magnetic Resonance Imaging; Neoplasm Staging; Pleural Neoplasms; Tomography, X-Ray Computed
PubMed: 12781119
DOI: 10.1016/s1695-4033(03)78129-6 -
Singapore Medical Journal Nov 2013Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by widespread hamartomas in organs such as the skin, brain, heart, lung, liver and... (Review)
Review
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by widespread hamartomas in organs such as the skin, brain, heart, lung, liver and kidney. Although associations of TSC with hamartomas, angiomyolipomas and fibromas have been reported, there has been no report of its association with malignant melanoma. Herein, we describe a 31-year-old man with malignant melanoma associated with TSC. The patient had a history of epilepsia, multiple hypomelanotic macules, periungual fibromas and multiple hepatic lesions. Malignant melanoma was diagnosed by hepatic biopsy. To the best of our knowledge, this is the first report of malignant melanoma coexisting with TSC in the literature. We also present and discuss the imaging findings, prognosis, underlying mechanisms and practical approaches in relation to the disease.
Topics: Adult; Biopsy, Needle; Follow-Up Studies; Humans; Immunohistochemistry; Magnetic Resonance Imaging; Male; Melanoma; Multimodal Imaging; Positron-Emission Tomography; Rare Diseases; Risk Assessment; Skin Neoplasms; Tomography, X-Ray Computed; Tuberous Sclerosis
PubMed: 24276112
DOI: 10.11622/smedj.2013233 -
Journal of Cardiothoracic Surgery Nov 2023It is very common for patients with newly diagnosed lung masses to have heart disease. However, papillary fibroelastomas (PFEs) of the tricuspid valve (TV) combined with... (Review)
Review
Concomitant minimally invasive surgery for tricuspid valve papillary fibroelastoma and right lung cancer in an elderly patient: a case report and review of the literature.
BACKGROUND
It is very common for patients with newly diagnosed lung masses to have heart disease. However, papillary fibroelastomas (PFEs) of the tricuspid valve (TV) combined with lung cancer are rarely reported. It is thus unclear whether a two-stage surgery or concomitant surgery is optimal.
CASE PRESENTATION
We report the case of a 73-year-old Chinese male who was diagnosed with PFEs on the TV by transthoracic echocardiography (TTE) examination while being evaluated to undergo video-assisted thoracic surgery (VATS) for a right lower lung nodule. We resected both the PFEs and the lung nodule via right minithoracotomy. The surgery was uneventful, and histopathology reports confirmed PFEs of the TV and moderately to poorly differentiated squamous cell carcinoma. The patient recovered uneventfully, and there was no sign of tumor recurrence during 15 months of follow-up.
CONCLUSIONS
We suggest that after careful evaluation, concomitant minimally invasive radical resection of primary lung cancer after cardiac PFE removal is an acceptable and safe treatment strategy and should be performed as soon as possible.
Topics: Male; Humans; Aged; Tricuspid Valve; Cardiac Papillary Fibroelastoma; Lung Neoplasms; Heart Neoplasms; Neoplasm Recurrence, Local; Minimally Invasive Surgical Procedures; Lung; Fibroma
PubMed: 37950280
DOI: 10.1186/s13019-023-02431-x -
Journal of Korean Medical Science Dec 1990A case of inflammatory pseudotumor of the lung occurring in a six-year-old boy is reported with clinicopathologic findings, including its ultrastructure. The patient had... (Review)
Review
A case of inflammatory pseudotumor of the lung occurring in a six-year-old boy is reported with clinicopathologic findings, including its ultrastructure. The patient had had frequent upper respiratory tract infections, and one and half year before the discovery of the lung mass, he suffered from pneumonia of the right lung, which was serologically proven to be a mycoplasma pneumoniae infection. Exploratory thoracotomy revealed a large mediastinal mass that was removed together with the right middle and lower lobes of the lung. The mass arose from the lung with an endobronchial element. Microscopically, the mass was composed of a variety of inflammatory and mesenchymal cells, including plasma cells, histiocytes, lymphocytes, and fibroblast-like spindle cells. Ultrastructurally, the spindle-shaped mesenchymal cells were either fibroblasts or myofibroblasts. At the time of diagnosis of the inflammatory pseudotumor of the lung, the serum titer of antimycoplasma antibody rose again, and the lung parenchyma adjacent to the mass showed interstitial pneumonia with features of bronchiolitis obliterans. The present case suggests that the inflammatory pseudotumor of the lung could be a postinflammatory lesion associated with mycoplasma pneumoniae infection.
Topics: Antibodies, Bacterial; Bronchiolitis Obliterans; Child; Diagnosis, Differential; Fibroma; Humans; Lung Neoplasms; Male; Mycoplasma pneumoniae; Pneumonia, Mycoplasma; Tomography, X-Ray Computed
PubMed: 2129214
DOI: 10.3346/jkms.1990.5.4.213 -
Medicina (Kaunas, Lithuania) Dec 2022Re-expansion pulmonary edema is a potentially life-threatening situation following thoracic surgery of a compromised lung. We report the case of a 24-year-old female... (Review)
Review
Re-expansion pulmonary edema is a potentially life-threatening situation following thoracic surgery of a compromised lung. We report the case of a 24-year-old female scheduled for a resection of a large intrathoracic desmoid tumor that presented with re-expansion pulmonary edema at the conclusion of her surgery and discuss the clinical presentation, mechanism and predictors of this entity and review similar cases reported in the literature.
Topics: Humans; Female; Young Adult; Adult; Pulmonary Edema; Fibromatosis, Aggressive; Lung; Postoperative Complications; Thorax
PubMed: 36557059
DOI: 10.3390/medicina58121857