Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare (prevalence ~ 1:2 million), devastating genetic disorder characterized by progressive heterotopic ossification. Crucially, surgical trauma is a potent trigger for catastrophic new bone …
Neoplastic potential of endometriosis is well established, albeit rare, and endometriosis-associated neoplasms are frequently encountered in clinical practice.
Mature cystic teratomas (MCTs) and endometriosis are the most common benign diseases in women of reproductive age. Their coexistence was traditionally considered rare. However, recent evidence suggests otherwise. This study …
Catamenial pneumothorax (CP) is a rare form of spontaneous pneumothorax associated with thoracic endometriosis and is exceptionally uncommon in adolescents. We report a 14-year-old girl with early menarche and heavy …
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with …
Xanthogranulomatous oophoritis (XGO) is a rare chronic inflammatory con-dition that can mimic ovarian malignancy both clinically and radiologically. It is characterized by foamy histiocytes and inflammatory infiltrates, often leading to …
Herlyn-Werner-Wunderlich syndrome (OHVIRA syndrome) is a rare congenital anomaly involving the Müllerian and renal systems, classically presenting as uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Due to its rarity …
Endometriosis (EMT) is an incurable and painful chronic illness that affects approximately 10% of people assigned female at birth worldwide. Currently, EMT takes on average 5-7 years to diagnose after …
Background: Endometriosis is a major cause of female infertility. It significantly impacts oocyte quality and embryonic development. The condition's pathophysiological mechanisms are multifactorial. However, they are believed to be reflected …
Endometriosis-associated intestinal tumors (EAITs) are rare malignancies that arise from ectopic endometrial tissue, and their clinical and molecular characteristics remain poorly defined.