Whole exome sequencing identifies risk variants associated with intracranial epidermoid cyst deterioration:A case report

BACKGROUND Intracranial epidermoid cyst(IEC)transformation to malignant squamous cell carcinoma(SCC)is extremely rare,and its etiology is yet unknown.Currently,SCC is treated by performing surgery,followed by a combination of radiotherapy and chemotherapy.It is crucial to identify efficient and trustworthy therapeutic targets for SCC to improve its diagnosis,prognosis,and treatment.CASE SUMMARY In this study,we report the case of a 47-year-old female patient with SCC,which progressed from IEC in the left internal capsule region.The patient was sought treatment at our hospital for severe diplopic vision,accompanied with speech disorder and memory loss.Based on the clinical and postoperative pathology,this patient was finally diagnosed with SCC.To identify disease-causing variants,whole exome sequencing(WES)was performed on the proband.WES revealed two pathogenic missense mutations on Gap junction protein beta 2(GJB2)(c.257C>T)and Toll-like receptor 2(TLR2)(c.1039A>G),respectively.CONCLUSION This study provided the first clinical evidence for demonstrating the role of GJB2 and TLR2 in IEC development and treatment.We further confirmed WES as a robust and reliable technique for underlying rare and complex disease-related genetic factor identification.

Two Cases of Epidermoid Cyst of the Buccal Floor Simulating: A Tumour of the Submandibular Gland

Dermoid cyst of the oral floor is rare benign tumour, who having three histological aspects: dermoid, teratoid and epidermoid. This one is characterized by the presence of a squamous stratified epithelium with cutaneous remnants. It may occur in any part of the body, however their frequency in the ENT sphere is relatively scarce. Seven per cent (7%) only of epidermoid cysts occur in the cervico-facial area, 1.6% of which locate at the floor level. When they are located submandibular, they can pose diagnostic difficulties and look like a tumour of the submaxillary gland. We report two cases of epidermoid cyst of the floor. Both patients suffered from swelling of the submandibular gland. Magnetic Resonance Imaging was not requested due to lack of resources. However, surgery allowed in both cases the excision of a cyst next to a normal submandibular gland. Patients did well post operatively.

Epidermoid Cyst of Cerebellopontine Angle

Synonyms: Epidermoid tumor,non-neoplastic inclusion cyst, congenital cholesteatoma of the cerebellopontine angle cistern.Definition: Congenital lesion arising from inclusion of ectodermal epithelial elements at time of neural tube closure during 3rd to 5th week of embryonic life, resulting in migration abnormalities of epiblastic cells.Classic imaging appearance:(1)Signal shows an insinuating cisternal lesion with low T1, high T2 close to that of cerebrospinal fluid (CSF).(2)FLAIR shows incomplete or absent attenuation.(3)Diffusion-weighted imaging shows epidermoid cyst has restricted diffusion(high-signal lesion).Other key facts:(1)3rd most common cerebellopontine angle-internal auditory canal (CPA-IAC) mass.(2)1% of all intracranial tumors.

Contrast-enhanced computed tomography findings of a huge perianal epidermoid cyst: A case report

BACKGROUND Epidermoid cysts can be found at any location in the human body.However,perianal epidermoid cysts are extremely rare and only a few cases have been reported.As far as we know,there is no special literature on the value of contrast-enhanced computed tomography(CT)for the diagnosis of perianal epidermoid cysts.CASE SUMMARY A 60-year-old male patient presented to the department of general surgery of PLA Strategic Support Force Characteristic Medical Center with the chief complaint of a mass in the perianal region gradually expanding for more than 30 years and perianal discomfort upon sitting for a preceding period of 2 mo.Physical examination revealed a painless mass in the left perianal region.Contrast-enhanced CT was used for preoperative diagnosis.The patient was treated by total mass excision under epidural anesthesia.Postoperative pathological examination revealed the presence of a perianal epidermoid cyst.The patient showed a satisfactory recovery during the 6-month follow-up period.CONCLUSION Contrast-enhanced CT may be a beneficial,useful,and convenient approach for assistance for preoperative diagnosis and surgical decision-making for patients with perianal epidermoid cysts.

Epidermoid Cyst of the Testis 5-Year Follow-Up Results in Adults

Background: In this study, we aimed to share our experiences in patients with epidermoid cyst of the testis. We report the demographic and clinical characteristics and the long term results in patients with epidermoid cysts. Materials and Methods: Thirteen patients with epidermoid cyst of the testis treated between June 2000 and January 2018 were retrospectively evaluated. Ten patients with available data were included in the study. Patients’ age, scrotal localization of symptoms, physical examination findings, serum tumor marker levels, pathology results and follow-up periods were recorded. Results: The current cohort consisted of 10 patients. The mean age at diagnosis was 29.7 years (range, 20 to 53 years). Eighty percent of the lesions were localized to the left hemiscrotum and 20% to the right hemiscrotum. One patient had a history of unilateral undescended testis. Serum tumor markers were normal in all patients. The mean scrotal mass lesion volume at diagnosis was 28 mm3 (range, 13 to 51 mm3). The mean follow-up period was 66.9 months (range, 12 to 216 months). Conclusions: Epidermoid cyst of the testis should be kept in mind, particularly in patients with lesions negative for tumor markers and radiological findings typical of epidermoid cysts. Annual follow-up is not required.

Retroperitoneal congenital epidermoid cyst misdiagnosed as a solid pseudopapillary tumor of the pancreas:A case report

BACKGROUND Retroperitoneal cysts are rare and usually asymptomatic abdominal lesions.Epidermoid cysts are frequent benign cutaneous tumors,but retroperitoneal localization of these cysts does not occur very often.CASE SUMMARY We report a case report of a 25-year-old woman with a giant mass in the abdominal cavity.Because imaging examination indicated that the mass probably originated from the pancreas,the mass was considered a solid pseudopapillary tumor of the pancreas(SPTP).However,surgery revealed a retroperitoneal epidermoid cyst located behind the pancreas neck and the root of the superior mesenteric artery(SMA).We performed complete resection of the tumor.Postoperative pathology showed an epidermoid cyst.The patient fared well after two months of follow-up.CONCLUSION Surgery is the gold standard for the diagnosis and treatment of retroperitoneal epidermoid cysts.Retroperitoneal epidermoid cysts around the pancreas are easily misdiagnosed as cystic SPTPs.Surgeons should pay particular attention to preoperative diagnosis to reduce severe surgical complications and improve the quality of life of patients.

GIANT HYPERDENSE INTRADIPLOIC EPIDERMOID CYST OF THE SKULL WITH EXTRA AND INTRACRANIAL EXTENSION: REPORT OF TWO CASES AND LITERATURES REVIEW

Intradiploic epidermoid cysts, fairly uncommon lesions in neurosurgical practice, are, as a rule, benign and slow-growing. Some may attain great size. Correct radiological assessment and complete removal of the tumor and its capsule are essential for adequate surgical treatment and good long-term prognosis. We report two cases of intradiploic epidermoid cysts of the skull, with giant and CT-hyperdense lesions with extra and intracranial extension, and analyze the clinicopathological and imaging features and treatment of these lesions in the light of the most important published data.

Sublingual epidermoid cyst—a case report

In this article we present the case of an epidermoid cyst of sublingual space along with submental extension in a 35 year old lady who presented with a mass in the oral cavity. On examination a mass was seen on the floor of the mouth displacing the tongue superiorly. Diffuse fullness was noted in the submental region. The lesion was excised under general anaesthesia with nasotracheal intubation. The entire mass was removed intra orally. The histological features were suggestive of epidermoid cyst. The patient did well postoperatively and no recurrence was seen during 8 months follow up.

A Case of Giant Epidermoid Cyst in the Floor of the Mouth That Caused Severe Obstructive Sleep Apnea Syndrome

We describe here, a case with a giant epidermoid cyst in the floor of the mouth that caused severe obstructive sleep apnea syndrome (OSAS). A 37-year-old man was referred to our clinic because of a swelling in the floor of his mouth and sleep apnea syndrome. The occurrence of breathing disorders and daytime drowsiness was monitored to evaluate his OSAS 1 day before and 7 days after surgery. Before surgery, the apnea-hyponea index (AHI) and Epworth Sleepiness Scale (ESS) were 45.7 and 22, respectively. The clinical diagnosis was a dermoid or an epidermoid cyst that caused severe OSAS. Under general anesthesia, the patient underwent intraoral surgical removal of the cyst, along with aspiration to reduce the mass. After surgery, his sleep apnea syndrome was significantly improved. The postoperative AHI and ESS were 5.5 and 7, respectively. As of 2 years after the operation, there was no evidence of recurrence.

Perirectal epidermoid cyst in a patient with sacrococcygeal scoliosis and anal sinus:A case report

BACKGROUND Perirectal epidermoid cysts are rare masses arising from the ectodermal germ cell layer of the hindgut and are predominantly found in middle-aged women.It is often difficult to make an accurate diagnosis of these cysts and it is equally challenging to distinguish it from other developmental cysts.CASE SUMMARY We report the case of an 18-year-old female patient with a perirectal mass who presented to the hospital with constipation.The patient experienced sacrococcygeal falls and burns on the left buttocks during growth.Three-dimensional computed tomography scans indicated abnormal sacral vertebrae with the sacral canal partially enlarged and opened.Pelvic magnetic resonance imaging showed a 55 mm × 40 mm × 35 mm unilocular cystic mass in the perirectal space and a solitary sinus in the left ischiorectal fossa.The cyst was completely resected posteriorly using the sacrococcygeal approach.The pathology was verified to be an epidermoid cyst.The patient remained recurrence-free after 6 mo of follow-up.CONCLUSION Successful treatment of perirectal epidermoid cysts depends on comprehensive evaluation.This is significant for the surgical approach and prognosis.

Epidermoid cyst of intrapancreatic accessory spleen:A case report and literature review

Epidermoid cyst of intrapancreatic accessory spleen is exceedingly rare; only 30 new cases have been reported in the English literature over the last 30 years.An accurate preoperative diagnosis was made in almost none of them because of the lack of reliable preoperative diagnostic methods. In this report, we present a case diagnosed with fluorine-18 fluorodeoxyglucose positron emission tomography(FDG-PET). A 41-year-old female who had breast cancer was routinely followed up by measuring the concentration of tumor makers.An increasing level of serum carbohydrate antigen 19-9was detected and a cystic lesion located at the tail of pancreas was found by ultrasonography. A whole body fluorine-18 FDG positron emission tomography was performed because of a high suspicion for either a malignancy of the pancreas or a recurrence of breast cancer.No increased uptake of FDG was noted and therefore the cystic lesion was considered as pancreatic benign disease. Because pancreatic malignancy could not be entirely ruled out, distal pancreatectomy and splenectomy were performed. The final pathological diagnosiswas epidermoid cyst of intrapancreatic accessory spleen(ECIAS). The FDG-PET findings matched the histopathology. A literature review reveals that the common clinical manifestations of ECIAS include asymptomatic findings on clinical examination, an occasional increase in tumor makers on laboratory results and occurrence only in the pancreatic tail. It is often misdiagnosed due to its extreme rarity and lack of a specific radiographic sign. There is no evidence of malignancy in ECIAS. Open or laparoscopic spleen preserving distal pancreatectomy is the minimally invasive procedure that would provide the best surgical management for epidermoid cyst of intrapancreatic accessory spleen.

Cerebellopontine Angle Epidermoid Cyst: Case Report

Epidermoid cysts are rare congenital tumors of the central nervous system (CNS), histologically benign and slow- growing lesions. Their frequency among primitive intracranial tumors is about 1% and they account for 40% of all intracranial epidermoid of the cerebellopontine angle (CPA);there they constitute the third most frequent neoplasm (5%), after acoustic neuromas and meningiomas. We report the case of a patient with a paucisymptomatic epidermoid cyst of the CPA.

Penile Epidermoid Cyst Consisted of Multiple Foci: A Case Report

Penile epidermoid cysts are uncommon, and a small number of cases have been reported worldwide. We present the first documented patient with a penile epidermoid cyst which consisted of multiple focuses. A 37-year-old man presented to our department with a chief complaint of an asymptomatic, soft mass in the ventral part of the penis. The mass was nontender, freely movable and measuring 3 cm within the dermis. MRI (magnetic resonance imaging) revealed a high signal intensity on both T1- and T2-weighted images. Excision of the cyst was performed under local anesthesia. Macroscopically, the cut surface of the mass appeared to be full of a cheese-like material and the cyst consisted of multiple focuses. The cyst did not contain skin appendages. The pathological diagnosis was an epidermoid cyst of the penis. No recurrence has been noted in the year since the operation.

Epidermoid Cyst of the Auricle: A Common Cyst at a Rare Site

Epidermoid cysts are benign, developmental, superficial cysts found commonly on the face, trunk and neck. Its presence on the ear lobe is very rare. We shall describe the occurrence of an epidermoid cyst on the auricle along with the presence of a dermoid cyst over the occipital scalp and elaborate on the patient presentation, diagnosis, management along with the post-operative follow up.

Cerebellar Liponeurocytoma Mimicking Cerebellopontine Angle Epidermoid Cyst:A Case Report

Cerebellar liponeurocytoma (CL) described under many different names, is a rare WHO grade I or II well differentiated neurocytic tumor of the cerebellum with focal lipomatous differentiation. Mainly reported in adulthood, it is fought to be a posterior fossa benign tumor. In this paper, we talk about a 64-year-old woman, following up for Parkinson’s disease presented in our department for 7 months’ history of headache and gait disturbance. MRI showed a right cerebellopontine angle (CPA) heterogeneous unlimited tumor mimicking an epidermoid cyst. She underwent a lateral suboccipital craniectomy procedure that permitted obtaining the whole gross total resection of this tumor. The histopathological diagnosis was a cerebellar liponeurocytoma. She was discharged from hospital the 8th day after surgery and was free of symptoms since 5 years.

皮肤支气管源性囊肿误诊为表皮样囊肿

患儿女,7岁。颈部囊肿6年。皮肤科检查:颈部右侧类圆形淡红色囊肿。皮损组织病理检查:真皮可见多个散在分布的囊肿结构,囊肿内衬可见纤毛,周围复层柱状上皮细胞,少量淋巴细胞浸润,可见散在杯状细胞。诊断:皮肤支气管源性囊肿。

大脑前纵裂池表皮样囊肿1例并文献复习

报告1例生长于颅内罕见部位的表皮样囊肿病例并复习相关文献。该表皮样囊肿位于大脑前纵裂池,通过术前评估,经前纵裂入路,囊内容物完全切除,囊壁次全切除,无新发症状。对位于颅内罕见部位的表皮样囊肿存在术前诊断困难的问题,手术方案需根据不同部位采取不同入路,术后并发症的发生与常见部位的颅内表皮样囊肿并无明显区别。

颊部前臂游离皮瓣发生表皮样囊肿1例报告

发生于颊部的表皮样囊肿比较少见,由于采用前臂游离皮瓣修复颊部缺损所引起的表皮样囊肿则更为罕见。本文报告1例罕见的前臂皮瓣修复颊癌术后缺损10年而在皮瓣修复区域继发形成的表皮样囊肿。

汗腺肿瘤的超声表现及误诊原因分析

目的探讨汗腺肿瘤的超声影像特点,并分析超声诊断误诊原因及影响因素,以提高超声诊断准确性和对该类疾病的认识,从而减少误诊。方法回顾性分析2009年1月至2024年7月在本院行手术切除的汗腺肿瘤87例患者的临床资料、超声检查及病理结果。结果87例病灶均位于皮下,皆为单发,平均直径约为19.7 mm(7~49 mm),54个(62%)病灶内部呈囊实性混合回声。术前高频超声仅对4例汗腺肿瘤作出正确诊断(误诊率高达88%),27例误诊为表皮样囊肿,其余被误诊为皮脂腺囊肿14例,真皮纤维瘤13例,脂肪瘤2例,基底细胞癌6例,纤维瘤4例,转移性淋巴结7例,血管瘤6例,神经鞘瘤3例,乳腺癌1例。结论汗腺瘤具有相对特异性的声像图表现,术前超声检查有助于诊断。其他类型汗腺肿瘤超声表现缺乏特异性,极易误诊,因此需要熟练掌握汗腺肿瘤的多种超声声像图表现,重视病史采集及临床表现,综合分析病灶特点及性质,掌握该类疾病鉴别诊断要点,从而减少误诊,但确诊仍需病理诊断。

右下颌骨表皮样囊肿1例报道及文献回顾

目的探讨颌骨表皮样囊肿的病因、发病机制、临床特点、诊断及治疗,为临床诊疗提供参考。方法分析1例发生于右下颌骨且伴有乳牙滞留、继承恒牙埋伏阻生的表皮样囊肿病例,并结合相关文献回顾分析。结果患者主诉拍片发现右下颌骨肿物1个月;查体发现83乳牙滞留,43未萌出,83、44、45牙舌侧牙槽骨膨隆,无明显压痛,无波动感,未扪及乒乓球样感;影像学检查:83、44、45、46牙根尖部1.9 cm×2.6 cm×1.6 cm低密度影,包绕43牙冠;初步诊断为:①右下颌骨肿物,考虑含牙囊肿;②43牙埋伏阻生;③83牙乳牙滞留;静吸复合麻醉下行右下颌骨肿物摘除术、43及83牙拔除术;术中见肿物囊壁薄,内含豆渣样物质;组织病理学诊断为“右下颌骨肿物”表皮样囊肿;术后随访1周患者无不适,术区愈合良好。文献复习结果表明,表皮样囊肿是由异位外胚层组织发育而来的良性囊肿,可发生于全身,发生于口腔者较少,而位于颌骨者更是罕见;颌骨表皮样囊肿临床表现不具有特异性,易与含牙囊肿等牙源性囊肿及肿瘤混淆,牙髓活力测验等技术可为临床医生提供参考,确诊需借助组织病理学检查;手术摘除是常用治疗方法,预后良好,复发率低。结论颌骨表皮样囊肿与颌骨囊肿具有相似的治疗原则,手术完整摘除囊肿预后良好。