Congenital solitary osseous choristoma of the left lateral canthus: a case report.

BACKGROUND: An ocular osseous choristoma is a growth of mature, compact bone in the ocular or periocular soft tissue, and it is the rarest form of ocular choristoma, accounting for only 1.7% of all epibulbar choristomas. CASE PRESENTATION: Herein we present the case of a 20-month-old girl who was referred to the oculoplasty clinic with a progressively growing mass in the left lateral canthus. It had been present since birth without ocular involvement. Upon examination the mass was firm with a smooth surface, measured 9 × 6 × 3 mm, and exhibited no episcleral attachment or ocular involvement. An excisional biopsy was performed, and the histopathological findings were consistent with osseous choristoma of the left lateral canthus. CONCLUSIONS: This report highlights the importance of considering osseous choristoma in the differential diagnosis of eyelid lesions, particularly those that have been present since birth. It also emphasizes the need for further studies investigating associations between osseous choristomas and ocular canthi.

Ectopic Breast Cancer Arising within an Axillary Lymph Node.

We report our experience with the diagnosis and treatment of an ectopic breast cancer arising within an axillary lymph node. The patient was a 65-year-old woman diagnosed breast cancer and axillary lymph node metastasis. We performed a partial mastectomy and axillary lymph node dissection. Postoperative pathology revealed no malignant lesions in the breast; however, a nodule in one of axillary lymph nodes had mixed benign and malignant components, leading to a diagnosis of invasive ductal carcinoma derived from ectopic mammary tissue. This case represents a very rare form of breast cancer, and the malignancy was difficult to distinguish from metastasis.

Epibulbar simple cartilaginous choristoma associated with unique pigmented multicystic component.

PURPOSE: To report an atypical presentation of an epibulbar simple cartilaginous choristoma with a unique pigmented multicystic component. CASE DESCRIPTION: A 69-year-old African American female presented for evaluation of a right nasal epibulbar lesion that had progressed over the prior year. Slit-lamp evaluation revealed an immobile, mildly pigmented multicystic lesion measuring 6.0 × 4.5 mm that involved the nasal bulbar conjunctiva and the plica semilunaris. The lesion appeared benign, without feeder vessels or features of epithelial dysplasia. Given its recent growth and the patient's cosmetic concerns, the lesion was excised with ocular surface reconstruction. Histopathological evaluation disclosed a well-circumscribed nodule of well-differentiated cartilage in the substantia propria, consistent with a simple cartilaginous choristoma. The overlying conjunctival stroma contained multiple cysts lined by focally pigment epithelium. The patient recovered well from surgery, with satisfactory cosmetic results. CONCLUSIONS: Our case of epibulbar simple cartilaginous choristoma includes a prominent superficial component of pigmented epithelial cysts, which has not been previously reported in the literature. This augments our knowledge on the spectrum of presentations of cartilaginous choristomas and underscores the importance of histopathological evaluation for definitive diagnosis.

Brain tissue heterotopic in the adrenal gland in a child: a scarce case report.

Heterotopic brain tissue is rare and has not been reported. Our center made the first report. 4 years and 2 months old Girl presented with a cystic mass in the right adrenal gland 2 weeks after right upper abdominal pain. The operation was successful, and the diagnosis was confirmed by postoperative pathology. 6 months after the procedure, the incision healed well without recurrence. This case report has a detailed diagnosis and treatment process and satisfactory examination results. It can provide a reference for diagnosing and treating clinical HBT and reduce the risk of misdiagnosis and mistreatment.

Recurrent ectopic primary breast adenocarcinoma of the vulva with a 19-year follow-up period.

We present a case of an ectopic breast adenocarcinoma of the vulva with metastatic local recurrence and a total follow-up period of 19 years, the longest documented in the literature to our knowledge. Following surgical excision, radiation therapy and hormonal treatment after the recurrence, the patient has remained disease free. This case demonstrates the potential for malignant transformation in accessory breast tissue and highlights the importance of close surveillance and regular physical examinations in patients with a history of ectopic breast malignancy.

A Case of Nasal Glial Heterotopia That Can Be Misdiagnosed as Storiform Patterned Sclerotic Fibroma/Collagenoma.

OBJECTIVE: Nasal glioma, also known as nasal glial heterotopia, is a rare tumor-like lesion that often affects newborns or infants with no hereditary predisposition. CASE REPORT: A 4-year-old child with a growth on the nasal dorsum since birth was diagnosed with nasal glial heterotopia/nasal glioma. The lesion showed a sclerotic fibroma/collagenoma-like storiform pattern with entrapped glial tissue that was S100 and GFAP positive. CONCLUSION: When a biopsy of the nasal dorsum demonstrates sclerotic microscopic findings with a storiform pattern, nasal glioma should be considered before making a diagnosis in the collagen-rich tissue spectrum (collagenoma or Gardner's fibroma), and an immunohistochemical panel should be requested to demonstrate the presence of an unrecognized light microscopically visible glial component.

CTNNB1 mutation-driven hybrid tumor: desmoid fibromatosis with an unusual associated epithelioid component arising in association with a neuromuscular choristoma.

CTNNB1 mutations play important roles in the development of soft tissue tumors, such as desmoid fibromatosis (DF), sinonasal tract angiofibroma, sinonasal glomangiopericytoma, intranodal palisaded myofibroblastoma, neuromuscular choristoma (NMC), and the recently reported pseudoendocrine sarcoma. Here, we report a unique hybrid soft tissue tumor with classic DF, unusual epithelioid component, and NMC in a 23-year-old female. The classic DF and NMC and the unusual epithelioid component and NMC were locally intermixed and closely related to each other. Immunohistochemically, the DF, unusual epithelioid component, and NMC exhibited nuclear positivity for ß-catenin to varying degrees. More critically, all of the above components harbored identical CTNNB1 p.Ser45Pro missense mutations. To the best of our knowledge, this is the only reported CTNNB1 mutation-driven hybrid tumor with DF, unusual epithelioid component, and NMC. The present case further confirmed that CTNNB1-mutational soft tissue tumors are highly heterogeneous, but the morphological spectrum is wide and consecutive.

Gastric type III heterotopic pancreas presenting as adenomyoma in the antrum of the stomach: a case report.

Although heterotopic pancreas usually occurs in the stomach and rarely presents as a submucosal tumor, an accurate preoperative diagnosis is often difficult because of the variety of clinical symptoms and findings depending on the size and location of the lesion. We experienced a case of gastric type III heterotopic pancreas presenting as a gastric adenomyoma in the antrum of the stomach. A 62-year-old woman visited a local hospital for epigastric discomfort. An esophagogastroduodenoscopy study indicated a submucosal tumor in the greater curvature of the gastric antrum. The patient underwent surgical resection of the tumor because it was enlarged. The histological sections of the resected specimen showed that the tumor was composed of ductular structures lined by tall columnar epithelia and a prominent smooth muscle stroma with no atypical cells. The tumor was compatible with Heinrich's type III heterotopic pancreas, which presented as an adenomyoma of the stomach. These findings provide useful histological features and some insight into a better understanding of the embryonic origin and development of adenomyoma and heterotopic pancreas in the antrum of the stomach.

Expression of miR-21 &IL-4 in endometriosis.

BACKGROUND: Endometriosis characterized with existence of endometrial-like tissue outside the uterus. Fibrosis of ectopic lesions is an important feature of endometriosis. IL-4 induces fibrosis via fibroblast proliferation, collagen production and myofibroblast differentiation. Increasing of miR-21 expression promotes fibroblast activation and fibrosis expansion. The aim of study was to evaluate the expression of miR-21 and its relationship with IL-4 gene expression in endometrial ectopic and eutopic tissues of endometriosis patients. METHODS AND RESULTS: Ectopic and eutopic tissue samples were taken from 20 women with endometriosis, and control samples were taken from the endometrium of 20 endometriosis-free women. The relative expression of IL-4 and miR-21 evaluated by Real Time PCR. IL-4 relative gene expression was significantly increased in ectopic tissue compared to eutopic (p = 0.025) and control tissue (p = 0.021). The relative expression of miR-21 gene in ectopic tissue was increased compared to eutopic (p = 0.850) and control tissue (p = 0.978) but these differences were not significant. Also, the correlation between IL-4 and miR-21 relative gene expression was not significant (p = 0.083). CONCLUSION: The increased expression of miR-21 in endometrium of women with endometriosis may upregulate the IL-4 gene expression and lead to fibrosis. Further studies may suggest miR-21 and IL-4 as candidates for diagnosis of endometriosis.

Laparoscopic ureteroneocystostomy in the treatment of urinary incontinence due to ectopy of the ureters in female dogs: A pilot study.

Ureteral ectopia is rare and requires surgical treatment after a thorough diagnostic workup. Open surgical techniques for repositioning ectopic ureters have been known for many years and are well described in the literature. However, to the best of our knowledge, no laparoscopic method of correcting this pathology has been described, which, in our opinion, would benefit the animal in terms of the healing process and overall clinical outcomes. This study aimed to evaluate the possibility of laparoscopic treatment of ureteral ectopia, which causes urinary incontinence in dogs. All of the operated ten dogs presented in this study were client-owned females with symptoms of urinary incontinence due to a unilateral intramural ectopic ureter. A three-trocar laparoscopic technique was used to perform the ureteroneocystostomy of the ectopic ureter. In this article, clinicopathological data, imaging features, procedural findings, complications, and short- and long-term outcomes are presented. The procedure was feasible in all cases. No major postoperative complications were observed. Among the minor complications, slight hematuria was observed in three dogs, which resolved spontaneously. In the period of at least one year after surgery, no negative impact of the procedure was observed. Seven of the ten operated dogs regained urinary continence. The remaining three dogs required additional surgery (urethral bulking) because of a lack of improvement after adjuvant pharmacological treatment. Overall, good-to-excellent long-term outcomes can be achieved; however, dogs that remain incontinent after laparoscopic ureteroneocystostomy may require additional treatment.

Osseous metaplasia in a rectal polyp.

Rectal polyps are finger-like projections of the mucosal surface that generally present with complaints of bleeding or mass per rectum. Polyps are classified histopathologically as neoplastic and non-neoplastic. Here, we present one such rare case of a middle-childhood boy who presented with complaints of bleeding per-rectum and revealed a 1.5 cm long rectal polyp. Histopathological examination revealed an osseous change in the rectal polyp. A detailed literature review of reported cases of benign rectal polyps with osseous metaplasia was conducted and consolidated all postulated theories of pathogenesis. This case report shows an interesting incidental finding of osseous metaplasia of the rectal polyp.

Right Common Femoral Vein Invasion: A Unique Case of Inguinal Ectopic Breast Cancer.

OBJECTIVES: Ectopic breast cancer may present anywhere in the milk line, from the axilla to the groin which is extremely rare in the inguinal region. Despite morphologic differences, ectopic breast tissue presents characteristics related to orthotopic breast tissue in terms of function and pathologic degeneration. The case report describes the treatment of a unique ectopic breast carcinoma which was located in the inguinal region with a common femoral vein invasion. METHODS: We present a unique case of an ectopic breast carcinoma presenting in an unusual anatomic location along the milk line. The study was approved by the local Ethics Committee (protocol no: 12.01.2023-2023/02) Informed consent was obtained from the patient. RESULTS: The patient is surgically treated and supplemented with neoadjuvant chemotherapy,radiotherapy and endocrine therapy. Histopathological examination revealed the diagnosis of invasive ductal carcinoma. The right common femoral vein was reconstructed with bovine pericardial patch after totally removal of the mass. CONCLUSIONS: This report alerts the reader to be cognizant of the unusual location of an ectopic breast cancer which was detected in the inguinal region with a common femoral vein invasion and discusses the treatment, suggesting novel therapeutic advice that could bring considerable clinical advantages. A multidisciplinary approach should be warranted in such cases to confirm a complete remission.

Unexpected presentation of accessory breast: vulvar accessory breast tissue: a case report.

BACKGROUND: The accessory breast is composed of residual glandular mammary tissue that persists after normal embryonic development. The entity is so rare that it is easily neglected in the diagnosis of disease. CASE PRESENTATION: We report a 24-year-old virgin Persian woman with a left-sided vulvar mass and no pain or discomfort until shortly before her presentation at our department. Ectopic breast tissue in the vulva was diagnosed. We performed wide local resection of the lesion. Pathological investigation of the lesion confirmed the presence of ectopic breast tissue with secretory changes. She had no specific developmental abnormalities and had no relevant family history. She was followed up for 10 months and had recovered fully by this time. CONCLUSION: Accessory breast tissue should be considered as a diagnosis when a mass is seen along the embryonic milk line, especially if the clinical findings reveal changes in the mass accompanied by changes in sex hormones.

Ectopic pancreas, gastric, duodenal and colonic tissue in a case of persistent umbilical discharge: Report of two patients with review of literature.

One of the typical complaints in the pediatric population is umbilical discharge. Among the congenital causes, remnants of omphalomesenteric duct or patent urachus are often detected. On a few occasions, multiple types of ectopic tissue are present. We describe histopathologic findings of two cases reported recently at our center as pediatric umbilical lesions with associated ectopic tissue. Histopathology of the excised mass confirmed the patent omphalomesenteric duct with ectopic gastric, duodenal, and colonic mucosa and pancreatic tissue in two patients with the clinical presentation of umbilical discharge. There were no associated congenital anomalies in these patients. The presence of multiple ectopic gastrointestinal mucosa and pancreas in the umbilical mass is unusual. Herein, we report these cases because of its rarity, multiple ectopic tissues, and reviewing the literature of the reported cases of multiple ectopic tissues.

Cystic dystrophy in heterotopic pancreas.

Cystic dystrophy in heterotopic pancreas, or paraduodenal pancreatitis, is a rare and complicated presentation involving heterotopic pancreatic tissue in the duodenal wall. This condition is present in 5% of the general population but disease mainly affects middle-aged alcoholic-smoking men with chronic pancreatitis (CP). It may be purely duodenal or segmental (pancreatico-duodenopathy). Its pathophysiology arises from alcohol toxicity with obstruction of small ducts of heterotopic pancreatic tissue present in the duodenal wall and the pancreatic-duodenal sulcus, leading to repeated episodes of pancreatitis. The symptomatology includes episodes of acute pancreatitis, weight loss, and vomiting due to duodenal obstruction. Imaging shows thickening of the wall of the second portion of the duodenum with multiple small cysts. A stepwise therapeutic approach is preferred. Conservative medical treatment is favored in first intention (analgesics, continuous enteral feeding, somatostatin analogues), which allows complete symptomatic regression in 57% of cases associated with a 5% rate of complications (arterial thrombosis and diabetes). Endoscopic treatment may also be associated with conservative measures. Surgery achieves a complete regression of symptoms in 79% of cases but with a 20% rate of complications. Surgery is indicated in case of therapeutic failure or in case of doubt about a malignant tumor. Pancreaticoduodenectomy and duodenal resection with pancreatic preservation (PPDR) seem to be the most effective treatments. PPDR has also been proposed as a first-line treatment for purely duodenal location of paraduodenal pancreatitis, thereby preventing progression to an extended segmental form.

PET imaging characteristics of neuromuscular choristoma and associated desmoid-type fibromatosis.

BACKGROUND: Neuromuscular choristoma (NMC) is a rare peripheral nerve lesion characterized by abnormal presence of muscle within nerve. Associated desmoid-type fibromatosis (NMC-DTF) often develops. We report 18F-fluorodeoxyglucose positron emission tomography (FDG PET) characteristics of NMC and NMC-DTF and propose that increased FDG activity within NMCs may be associated with subclinical NMC-DTF or NMC-DTF "precursor" tissue. METHODS: Our institutional database was searched for all NMC cases. Inclusion criteria were 1) confirmed diagnosis of NMC with or without biopsy, and 2) available PET and MRI studies. PET data included SUVmax and SUVmean of NMCs, contralateral limb normal skeletal muscle and unaffected nerves, and SUVmax of NMC-DTF if present. SUV values were compared using paired t-test. A p value of < 0.05 was considered statistically significant. RESULTS: Our cohort consisted of 9 patients with NMC, 8 cases involving sciatic nerve and 1 of brachial plexus. On PET imaging, all NMC-affected nerve segments showed significantly higher FDG uptake (SUVmax/mean) compared to both contralateral normal nerve and normal skeletal muscle (all P < 0.05). Similar to sporadic DTF, NMC-DTF was highly FDG-avid (average SUVmax of 4.2). SUVmax in NMC with or without concurrent NMC-DTF did not differ (p = 0.76). Within NMC-affected nerve segment, FDG activity was relatively higher in areas with low T1/T2 MR signal. CONCLUSION: All NMCs were more FDG avid compared to both normal skeletal muscle and contralateral unaffected nerve, arguing against the presence of heterotopic muscle in NMC as the source of FDG avidity. FDG avidity within NMC may reflect subclinical NMC-DTF or a precursor lesion, as NMC-DTF are highly FDG-avid, and the highest regions of FDG avidity in NMC occurred in regions with MR characteristics associated with NMC-DTF (i.e., lower T1/T2 signal). We believe that the integration of FDG PET with serial MR imaging in patient follow up will clarify its utility in both detection and surveillance of NMC-DTF.

Tongue Base Ectopic Thyroid Tissue-Is It a Rare Encounter?

Failure in the embryological development of the thyroid in adults is rarely seen. We present the case of a 79-year-old female patient who complained of dysphagia and progressive upper respiratory obstruction, which started 12 months prior to her admission. An ENT clinical exam revealed a tongue base, spherical, well-defined tumour covered by normal mucosa. Further assessments established the diagnosis of the tongue base ectopic thyroid tissue. Due to the patient's symptoms, a transhyoid tongue base tumour removal was performed. The selected patient gave consent for participation and inclusion in this paper, in compliance with the 1964 Helsinki declaration.