Objective: To decribe a case of rare type of vaginal polyp.
Design: Case report.
Setting: Department of Pathological Anatomy, Regional hospital Nachod.
Conclusion: Tubulo-squamous polyp is rare type of vaginal polyp first described in 2007, with only up to 20 cases have been reported in the literature so far. It affects mostly postmenopausal women and presents as a polypoid mass occurring in the upper part of vagina. Histologically, it is composed of squamous and glandular component within fibrous stroma. The etiopathogenesis of this lesion remains unclear, but it may arise from mesonephric remnants or Skene glands (so-called female prostate). This theory is supported by the fact that some cases show expression of prostate specific acid phosphatase (PSAP) and/or prostate specific antigen (PSA).
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Cell Death Discov
January 2025
Cutaneous Biology Research Center, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA, 02129, USA.
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. A key feature of AEC syndrome is chronic skin erosion, for which no effective treatment currently exists. Our previous studies demonstrated that mutations associated with AEC syndrome lead to p63 protein misfolding and aggregation, exerting a dominant-negative effect.
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Department of Neurology, International University of Health and Welfare, Narita, Japan.
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Cancer Genet
January 2025
Centre de Recherche des Cordeliers, Université Paris Cité, Sorbonne Université, Inserm, F-75006, Paris, France; UMR 1231 GAD, INSERM, Université de Bourgogne, Franche Comté, Dijon, France.
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Mayo Clinic, Rochester, MN, USA.
Testicular follicular lymphoma (TFL) is an exceedingly rare lymphoma that typically occurs in young male patients and is now recognized as a distinct diagnostic entity in the International Consensus Classification. TFL shows some clinicopathologic and genetic overlap with pediatric-type follicular lymphoma (PTFL). We report a case of TFL occurring in an otherwise healthy 4-year-old boy who presented with painless scrotal swelling.
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January 2025
Rare Diseases Team, Office of New Drugs, Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, MD, USA.
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