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Journal of Cutaneous Pathology Feb 2024So far, confusion exists regarding the question of whether hereditary perifollicular fibromas and fibrofolliculomas can be distinguished from each other. Here,...
So far, confusion exists regarding the question of whether hereditary perifollicular fibromas and fibrofolliculomas can be distinguished from each other. Here, histopathological arguments are presented to clarify this terminological problem. In 1977, Birt et al. described a large kindred affected with hereditary multiple "fibrofolliculomas," which they thought were "a hitherto unrecognized pilar hamartoma," but they never claimed the fibrofolliculomas were part of a syndrome. A careful microscopic comparison shows, however, that the tumors are clinically and histopathologically identical to perifollicular fibromas, as first described by Burnier and Rejšek in 1925. Their familial occurrence was discovered in 1971 by Civatte and Le Tréguilly. Before 1977, the term "perifollicular fibroma" was used for these skin tumors. By contrast, Hornstein and Knickenberg described in 1975 perifollicular fibromas as a cutaneous marker of a syndrome characterized by a predisposition to colon cancer and pneumothorax. Later, two French groups erroneously proposed the term "Birt-Hogg-Dubé syndrome" to describe the co-occurrence of fibrofolliculomas, trichodiscomas, and acrochordons, which was contrary to what Birt et al. had in mind. Hence, today, we should discriminate between the hereditary nonsyndromic perifollicular fibromas, as documented by Civatte and Le Tréguilly and later by Birt et al., and the syndromic perifollicular fibromas, as delineated by Hornstein and Knickenberg.
Topics: Humans; Skin Neoplasms; Fibroma; Hair Diseases; Hamartoma; Syndrome
PubMed: 37649357
DOI: 10.1111/cup.14522 -
Journal of Gastrointestinal Surgery :... Jan 2024
Topics: Humans; Stomach Neoplasms; Upper Gastrointestinal Tract; Digestive System Neoplasms; Fibroma
PubMed: 38353082
DOI: 10.1016/j.gassur.2023.10.003 -
European Archives of Paediatric... Aug 2023This study assessed the prevalence of maxillofacial lesions in children, i.e., 0-9 years, and adolescents, i.e., 10-19 years, in a Brazilian Oral Pathology Service and... (Review)
Review
Prevalence of oral and maxillofacial lesions in children and adolescents at a regional Brazilian oral pathology service: a retrospective study and the relevant literature review.
PURPOSE
This study assessed the prevalence of maxillofacial lesions in children, i.e., 0-9 years, and adolescents, i.e., 10-19 years, in a Brazilian Oral Pathology Service and compared results with available literature.
METHODS
Clinical and histopathological records from January 2007 to August 2020 were analysed and a literature review investigating maxillofacial lesions in paediatric populations was also performed.
RESULTS
Overall, "reactive salivary gland lesions" and "reactive connective tissue lesions" were the most prevalent group of soft tissue lesions, affecting children and adolescents equally. From these, mucocele and pyogenic granuloma were the most prevalent histological diagnoses, respectively, regardless of age. These findings were consistent with the 32 studies included. Considering intraosseous lesions, "odontogenic cysts" and "periapical inflammatory lesions" were the most prevalent groups, with no relevant differences between age groups, except for the odontogenic keratocyst, which was more prevalent in adolescents. Moreover, several odontogenic tumours, such as ameloblastic fibroma and odontogenic myxoma, were significantly more prevalent in children.
CONCLUSION
Most maxillofacial lesions presented a similar prevalence between children and adolescents. Reactive salivary gland lesions and reactive connective tissue lesions were the prevailing diagnostic categories, regardless of age. Some odontogenic tumours and the odontogenic keratocyst showed significantly different frequencies across these age groups.
Topics: Child; Humans; Adolescent; Mouth Diseases; Retrospective Studies; Brazil; Pathology, Oral; Prevalence; Odontogenic Cysts; Odontogenic Tumors
PubMed: 37099119
DOI: 10.1007/s40368-023-00800-7 -
Diagnostic Pathology Oct 2023Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as... (Review)
Review
BACKGROUND
Nevoid basal cell carcinoma syndrome (NBCCS, Gorlin syndrome) is a rare autosomal dominantly inherited disorder that is characterized by multisystem disorder such as basal cell carcinomas, keratocystic odontogenic tumors and skeletal abnormalities. Bilateral and/or unilateral ovarian fibromas have been reported in individuals diagnosed with NBCCS.
CASE PRESENTATION
A 22-year-old female, presented with low back pain, and was found to have bilateral giant adnexal masses on pelvic ultrasonography, which had been suspected to be malignant ovarian tumors. Positron emission tomography/computed tomography showed multiple intracranial calcification and skeletal abnormalities. The left adnexa and right ovarian tumor were resected with laparotomy, and pathology revealed bilateral ovarian fibromas with marked calcification. We recommended the patient to receive genetic testing and dermatological examination. No skin lesion was detected. Germline testing identified pathogenic heterozygous mutation in PTCH1 (Patched1).
CONCLUSIONS
The possibility of NBCCS needs to be considered in patients with ovarian fibromas diagnosed in an early age. Skin lesions are not necessary for the diagnosis of NBCCS. Ovarian fibromas are managed with surgical excision with an attempt at preserving ovarian function. Follow-up regime and counseling on options for future fertility should be offered to patients.
Topics: Female; Humans; Young Adult; Adult; Basal Cell Nevus Syndrome; Fibroma; Ovarian Neoplasms; Odontogenic Cysts
PubMed: 37907964
DOI: 10.1186/s13000-023-01406-9 -
Medicina (Kaunas, Lithuania) Sep 2023: Meigs syndrome is represented by a benign adnexal tumor, ascites, and hydrothorax. Even though the ovarian mass is often characterized by a fibroma-like origin, cancer... (Review)
Review
: Meigs syndrome is represented by a benign adnexal tumor, ascites, and hydrothorax. Even though the ovarian mass is often characterized by a fibroma-like origin, cancer antigen-125 (CA-125) serum levels could be elevated as in the development of ovarian cancer. Here, we present the case of a patient with Meigs syndrome and increased CA-125. : We performed systematic research for articles including similar cases in PubMed, EMBASE, and Scopus in February 2023, adopting the string of idioms: "Meigs syndrome AND Cancer antigen 125", and following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. : Eligible records were 25. Hydrothorax was right-sided in 10 cases over 25; left-sided in two patients over 25. Concerning ascites, two patients showed more than 6 L of ascitic fluid, whereas three patients had 6 L or less. CA-125 elevation ranged from 149 IU/mL to 3803 IU/mL. Adnexal mass histotypes were: struma ovarii (12 cases), thecomas (two cases), fibrothecomas (five cases), fibromas (five cases), and one sclerosing stromal tumor (SST). : In postmenopausal women with elevated CA-125 serum levels and an adnexal mass suspicious for malignancy at ultrasound (US), ascites and pleural effusion, surgery, and histopathological examination are necessary. MS is a diagnostic option, with an excellent prognosis after exeresis of the mass.
PubMed: 37763803
DOI: 10.3390/medicina59091684 -
Plastic and Reconstructive Surgery Feb 2024Dupuytren disease is associated with significant comorbidity and mortality, and it has no existing prevention strategies. It is unclear which modifiable risk factors are...
BACKGROUND
Dupuytren disease is associated with significant comorbidity and mortality, and it has no existing prevention strategies. It is unclear which modifiable risk factors are most amenable for prevention. This study aimed to determine the strength of modifiable risk factors for Dupuytren disease, and to investigate associations with other diseases.
METHODS
Using UK Biobank data, this case-control study analyzed the association between phenotypic variables and Dupuytren disease through multivariable logistic regression. Exposures assessed were age, sex, body mass index, waist-to-hip ratio, Townsend deprivation index, smoking status, alcohol intake, diabetes mellitus, hypertension, cancer, liver disease, respiratory disease, rheumatoid arthritis, epilepsy, psoriasis, and gout.
RESULTS
There were 4148 cases and 397,425 controls. Male sex (OR, 3.23; 95% CI, 2.90 to 3.60; P = 1.07 × 10 -100 ), increasing age (OR, 1.08; 95% CI, 1.07 to 1.08; P = 6.78 × 10 -167 ), material deprivation (OR, 1.01; 95% CI, 1.00 to 1.02; P = 0.0305), high-density lipoprotein cholesterol (OR, 1.76; 95% CI, 1.58 to 1.96; P = 3.35 × 10 -24 ), smoking exposure, and alcohol intake were all associated with increased odds of Dupuytren disease. With increasing obesity class, there was approximately 25% decreased odds (OR, 0.774; 95% CI, 0.734 to 0.816; P = 4.71 × 10 -21 ). Diabetes with microvascular or end-organ complications was associated with more than 2.5 times increased odds of Dupuytren disease (OR, 2.59; 95% CI, 1.92 to 3.44; P = 1.92 × 10 -10 ). Within this group, increasing hemoglobin A1c values by 10 mmol/mol, or 0.9%, increased the odds by 31% (OR, 1.31; 95% CI, 1.13 to 1.51; P = 2.19 × 10 -4 ).
CONCLUSION
Diabetes and poor glycemic control are major risk factors for Dupuytren disease, which present an opportunity for prevention.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, III.
Topics: Humans; Male; Dupuytren Contracture; Case-Control Studies; Biological Specimen Banks; UK Biobank; Risk Factors; Diabetes Mellitus
PubMed: 37257135
DOI: 10.1097/PRS.0000000000010774 -
Journal of Oral and Maxillofacial... 2023Spindle cell lesions comprise a vast plethora of benign and malignant lesions with similar clinical and radiographic features. Their overlapping histopathologic features...
CONTEXT
Spindle cell lesions comprise a vast plethora of benign and malignant lesions with similar clinical and radiographic features. Their overlapping histopathologic features ensure a diagnostic dilemma.
AIM
The current multicentric study aims to delineate fibroblastic and myofibroblastic oral spindle cell lesions based on cytomorphology and comprehensive immunohistochemical analysis.
SETTINGS AND DESIGN
The experimental study was conducted at MS Ramaiah University of Applied Sciences, Bangalore, and All India Institute of Applied Sciences, Delhi.
METHODS AND MATERIAL
A comprehensive histological scoring criteria and panel of immunohistochemical makers (STAT6, CD31, CD34, S100, SMA, vimentin, pan-CK, HHF-35, Ki67, ALK, desmin, HMB-45, SATB2, ERG, EMA and CD99) were employed concurrently for the first time for fibroblastic and myofibroblastic oral spindle cell lesions. The data obtained was tabulated and studied.
STATISTICAL ANALYSIS USED
Results: Using cytological scoring criteria and panel of immunohistochemical makers, the cases analysed and characterized were desmoplastic fibroma, fibrosarcoma, leiomyosarcoma, nodular fasciitis, neurofibroma and epithelioid inflammatory myofibroblastic sarcoma (EIMS).
CONCLUSIONS
The diagnostic strategies need to be upgraded for the diagnosis of spindle cell lesions. Emphasis must be placed on cytomorphology, an immunohistochemistry (IHC) panel of markers is imperative for the accurate diagnosis of fibroblastic and myofibroblastic oral spindle cell lesions.
PubMed: 38304501
DOI: 10.4103/jomfp.jomfp_282_23 -
Journal of Pharmacy & Bioallied Sciences Feb 2024Traumatic or irritation fibroma is the healed end product of the inflammatory hyperplastic lesion, which can occur at any age from almost any softtissue site, tongue,...
Traumatic or irritation fibroma is the healed end product of the inflammatory hyperplastic lesion, which can occur at any age from almost any softtissue site, tongue, gingiva, and buccal mucosa being the most common. It is usually characterized by a slow, painless growth accumulated over a period of months or years.
PubMed: 38595470
DOI: 10.4103/jpbs.jpbs_650_23 -
Journal of Gastrointestinal Surgery :... Nov 2023
Topics: Humans; Fibromatosis, Abdominal; Abdominal Neoplasms; Mesentery
PubMed: 37273077
DOI: 10.1007/s11605-023-05725-6 -
European Radiology Feb 2024To assess the safety and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for the treatment extra-abdominal desmoids.
OBJECTIVE
To assess the safety and efficacy of magnetic resonance-guided focused ultrasound (MRgFUS) for the treatment extra-abdominal desmoids.
METHODS
A total of 105 patients with desmoid fibromatosis (79 females, 26 males; 35 ± 14 years) were treated with MRgFUS between 2011 and 2021 in three centers. Total and viable tumors were evaluated per patient at last follow-up after treatment. Response and progression-free survival (PFS) were assessed with (modified) response evaluation criteria in solid tumors (RECIST v.1.1 and mRECIST). Change in Numerical Rating Scale (NRS) pain and 36-item Short Form Health Survey (SF-36) scores were compared. Treatment-related adverse events were recorded.
RESULTS
The median initial tumor volume was 114 mL (IQR 314 mL). After MRgFUS, median total and viable tumor volume decreased to 51 mL (95% CI: 30-71 mL, n = 101, p < 0.0001) and 29 mL (95% CI: 17-57 mL, n = 88, p < 0.0001), respectively, at last follow-up (median: 15 months, 95% CI: 11-20 months). Based on total tumor measurements (RECIST), 86% (95% CI: 75-93%) had at least stable disease or better at last follow-up, but 50% (95% CI: 38-62%) of remaining viable nodules (mRECIST) progressed within the tumor. Median PFS was reached at 17 and 13 months for total and viable tumors, respectively. NRS decreased from 6 (IQR 3) to 3 (IQR 4) (p < 0.001). SF-36 scores improved (physical health (41 (IQR 15) to 46 (IQR 12); p = 0.05, and mental health (49 (IQR 17) to 53 (IQR 9); p = 0.02)). Complications occurred in 36%, most commonly 1/2 degree skin burns.
CONCLUSION
MRgFUS reduced tumor volume, reduced pain, and improved quality of life in this series of 105 patients with extra-abdominal desmoid fibromatosis.
CLINICAL RELEVANCE STATEMENT
Imaging-guided ablation is being increasingly used as an alternative to surgery, radiation, and medical therapy for the treatment of desmoid fibromatosis. MR-guided high-intensity focused ultrasound is an incisionless ablation technique that can be used to reduce tumor burden effectively and safely.
KEY POINTS
• Desmoid fibromatosis was treated with MR-guided high-intensity focused ultrasound in 105 patients. • MR-guided focused ultrasound ablation reduced tumor volume and pain and improved quality of life. • MR-guided focused ultrasound is a treatment option for patients with extra-abdominal desmoid tumors.
Topics: Humans; Male; Female; Fibromatosis, Aggressive; Retrospective Studies; Quality of Life; High-Intensity Focused Ultrasound Ablation; Pain; Treatment Outcome
PubMed: 37615768
DOI: 10.1007/s00330-023-10073-9