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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Review on 209 Congenital Cysts of the Floor of the Mouth

目的:比较1980～2005年在武汉大学口腔医院治疗的89位中国病人和在约旦医院治疗的120位病人三型口底囊肿的临床特点.方法:回顾性分析皮样囊肿、表皮样囊肿和畸胎样囊肿患者的年龄、性别、种族,以及比较两组患者的囊肿位置、大小、就诊时间、手术治疗方法和复发率等方面的差别.结果:209例口底囊肿中,93例(44.5%)男性,116例(55.5%)女性.皮样囊肿66例(31.6%)、表皮样囊肿115例(55%)、畸胎样囊肿28例(13.4%).皮样囊肿、表皮样囊肿多见于头3个10岁年龄组,20～29岁高发,而畸胎样囊肿高好发于10岁以前.约90%的患者无自觉症状.发病后6个月以内就诊者,第1组(43.8%)明显少于第2组(80%).这些先天性囊肿常发生在口底中部.就诊时第1组中囊肿直径大于3 cm 者达48.3%,而第2组中囊肿直径大于3 cm 者仅11.7%.第1组中经口外进路切除病变占58.4%,而第2组为41.7%.141例随访病例的术后复发25例,复发率是17.7%.结论:两组口底囊肿有类似的临床特点,其中表皮样囊肿较常见,畸胎样囊肿的发病年龄较小.手术切除不彻底可导致病变复发.

Intra osseous dermoid cyst of mandible—A rare case report

The present article report a rare case of intraosseous dermoid cyst in mandible which clinically and radio-graphicaly presented as mandibular cyst. The diagnosis of dermoid cyst was confirmed histologically. A 20 year old patient was admitted to our Department with the complaint of swelling in left lower jaw with occasional pain. Radiographic examination revealed a radiolucent lesion extending from left 2nd molar to right premolar region. On surgical exploration the lesion was cystic in nature full of hair and keratinized tissues. The tissue was sent for the histopathological examination and macroscopic feature reveal numerous bits of soft tissue. The tissues were creamish brown in color, firm in consistency, with largest tissue measuring 2.5 × 1.5 × 0.5 cm in dimension. Few hair follicles were also evident within it. The histopathology reveal cyst lined by stratified squamous hyperor- thokeratinized epithelium supported by a fibrous connective tissue wall. The cystic epithelium is showing melanin pigmentation in the basal cell layer. Ab-undant onion skin keratin is seen within the cyst lumen. The epithelial lining as well as cyst wall shows numerous skin appendages such as lobules of seba-ceous glands. The underlying connective tissue shows mild chronic inflammatory infiltrate mainly composed of lymphocytes.

Basal Cell Carcinoma Arising from a Follicular Hybrid Cyst

Malignant tumors arising from follicular cysts are rare. Herein, we report of a 62-year-old Japanese woman with a slowly growing tumor, 22 × 20 mm in size, located on her nose for 2 years. Histopathological examination of the surgically excised tumor showed that the tumor cells were basaloid and formed peripheral palisading patterns. The tumor contained a cystic structure in its center, and the cyst wall was lined with stratified epithelium with or without keratohyalin granules. Based on these findings, a diagnosis of basal cell carcinoma arising from a follicular hybrid cyst was made. To our knowledge, this is the first case of basal cell carcinoma originating from a follicular hybrid cyst. A review of previous reports of basal cell carcinoma from a follicular cyst indicated that the majority of previous cysts were located on the face, and that the lesions had been present for a relatively long time. The present case showed typical clinical findings and followed a regular course. Malignant transformation may be a rare event, but it can occur in a follicular cyst, so cysts and suspected cysts, especially those found on the face and those persisting for relatively long time, should always be subjected to histological examination.

An Unusal Case of Epidermal Cyst in Submandibular Space

Epidermal cysts are very common skin lesions and 1.6% are seen in oral cavity. But epidermal cyst in submandibular region is extremely rare with only 3 such reported cases in last 25 years. Here we present a rare case of epidermal cyst in left submandibular space in a 53-year-old female.

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。