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Lhermitte-Duclos Disease is a rare clinical entity involving a dysplastic lesion of the cerebellum. The dysplastic cerebellar ganglioblastoma is often seen in association with Cowden Syndrome, an autosomal dominant disorder consisting of a mutation in the phosphatase and homologous tensin (PTEN) gene. Characteristic findings on neuroimaging allow for a pre-operative diagnosis to be made, which guides further management of the condition. This report describes the diagnosis and management of Lhermitte-Duclos Disease in a 51-year-old lady, spanning a period of almost seven years. The characteristic radiological and histological findings are presented, along with the clinical features associated with Cowden Syndrome. This patient ultimately underwent surgical intervention for symptomatic relief, which is described here.

Background: Acute acquired comitant esotropia caused by prolonged near work, such as the use of digital devices, has been frequently reported in recent years. However, intracranial examination is necessary even for patients with nonparalytic comitant esotropia. Lhermitte-Duclos disease is a rare tumor that grows in layers in the cerebellum. Among those with this disease, cases of esotropia have been reported due to abduction limitation of the eye, but there have been no reports of comitant esotropia. Here, we report the case of a young woman with acute acquired comitant esotropia who was found to have Lhermitte-Duclos disease., Case Presentation: A 16-year-old Japanese female patient, whose ethnicity was Asian, was referred to our hospital for acute acquired comitant esotropia. Fundus examination revealed papilledema in both eyes, and magnetic resonance imaging of the head revealed a cerebellar tumor in the right cerebellum with obstructive hydrocephalus. She underwent partial tumor resection, and a histopathological diagnosis of Lhermitte-Duclos disease was obtained. However, comitant esotropia status remained unchanged, and she underwent strabismus surgery. Finally, diplopia disappeared completely., Conclusion: Neurological and intracranial imaging examinations are essential when acute acquired comitant esotropia is observed. Acute acquired comitant esotropia by Lhermitte-Duclos disease did not improve with partial tumor resection and required strabismus surgery, but good surgical results were obtained., (© 2024. The Author(s).)

Rationale: Lhermitte-Duclos disease (LDD), or dysplastic cerebellar gangliocytoma (DCG), is a rare tumor originating from the cerebellar cortex. LDD is a benign neuroglial tumor with uncertain prognosis. Over 200 cases have been reported in the literature mostly in the form of case reports. Thus, we present a spectacular case of LDD with excessive calcification in a female septuagenarian., Patient Concerns: A 72-year-old female presented with progressive dizziness for 8 months and suffered a head and sacrococcygeal region injury 20 days prior to her admission in our neurosurgery department., Diagnosis: Computed tomography scan showed a right nonspecific cerebellar mass with striated calcification. Magnetic resonance imaging revealed a right "tiger-striped" alteration of the cerebellar cortex. H&E staining revealed a low grade glial neural tumor which was consistent with the diagnosis of LDD or DCG., Intervention: The lesion was total resected., Outcomes: The patient recovered well and the cerebellar dysfunctional symptoms subsided 3 months after the operation and 2 years follow-up revealed no recurrence of the lesion and no neurological deficits., Lesion: We postulate that the calcification of LDD is age-related and the pathogenesis of disease often observed in young adulthood., Competing Interests: The authors have no funding and conflicts of interest to disclose., (Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.)

Anesthetic considerations for adults with Bannayan-Riley-Ruvalcaba syndrome, part of the PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome, are not well described. As patients may require surgical intervention for associated musculoskeletal, intestinal, oncologic, or soft tissue masses, knowledge of implications of anesthesia is necessary. Airway management may be challenging given macrocephaly and accumulation of lymphangiomatous tissue in the oro/hypopharynx. This report describes a patient with typical features, nonreassuring external airway anatomy, and developmental delay, which precluded an awake airway management technique. The airway was secured with the use of high-flow nasal oxygen and videolaryngoscopy., Competing Interests: Conflicts of Interest: See Disclosures at the end of the article., (Copyright © 2023 International Anesthesia Research Society.)

Although the posterior fossa is a common location for paediatric brain tumours [1], diffuse glioma isolated to the cerebellum is an extremely rare imaging entity. Only two cases of isolated diffuse paediatric cerebellar glioma have been reported in the English language to the best of our knowledge [2, 3], and only one of these cases had a similar imaging phenotype to our cases [3]. Although somewhat similar to Lhermitte-Duclos (dysplastic gangliocytoma of the cerebellum), the appearances are distinct from other neoplastic entities of the paediatric posterior fossa. Clinical presentation and neurological examination findings are vital however to help differentiate other diffuse pathologies involving the cerebellum such as rhombencephalitis. Presented here are two diffuse cerebellar gliomas in children under the age of 3 with near identical imaging phenotypes demonstrating differing histological and molecular genetic profiles., (© 2023. Crown.)

PTEN hamartoma tumor syndrome (PHTS) is a rare genetic cancer and tumor predisposition syndrome. Due to the wide spectrum of clinical manifestations and variable age at onset, the pathways leading to a PHTS diagnosis are difficult and highly variable. Many patients were found to have PHTS after a cancer diagnosis, missing the opportunity of prevention or enhanced cancer screening. This retrospective study evaluated a PHTS cohort followed in a high-risk surveillance clinic in a comprehensive cancer institution. A significant portion of the patients (60.9%, 14/23) had at least one cancer diagnosis (average age 34.6 years at diagnosis). A significant portion (78.3%, 18/23) were affected with clinically significant goiters (age 27.9 years), and many (60.9%, 14/23) had partial or total thyroidectomy (age 27.1 years). The average age at goiter diagnosis or thyroidectomy is younger than a cancer diagnosis. In 12 individuals who were affected with clinically significant goiter and cancer, all cancers were diagnosed after the thyroid disease (6.3 years). As clinically significant thyroid nodules in childhood or early young adulthood are common in PHTS, but uncommon for general population, these early onset thyroid nodules may alert the clinician to initiate PHTS-targeted evaluation and genetic testing., (© 2022 Wiley Periodicals LLC.)

Cowden syndrome is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues, including the skin, mucous membranes, and gastrointestinal tract. Germline mutations of the PTEN tumor suppressor gene are responsible for Cowden syndrome. Cowden syndrome is associated with an increased risk of breast, thyroid, renal and uterine cancers; however, ovarian cancer rarely develops in women with Cowden syndrome, although somatic PTEN mutation often occurs in some types of ovarian carcinomas. Herein we report the first case of ovarian carcinosarcoma that developed in a woman with Cowden syndrome. A 55-year-old woman with a history of breast cancer, thyroid goiter, and palatal papillomatosis presented with pelvic distention. CT scan revealed a pelvic tumor suggesting ovarian cancer. She underwent a total abdominal hysterectomy, a bilateral salpingo-oophorectomy, and an omentectomy, but the surgical cytoreduction was suboptima( l >2 cm residual disease). Pathological examination showed a mixed tumor composed of high-grade carcinoma and heterologous sarcoma. Immunohistochemically, tumor cells were positive for p53. She was diagnosed with stage ⅢC ovarian carcinosarcoma. Genetic testing detected a PTEN variant, confirming the diagnosis of Cowden syndrome. She received paclitaxel/ carboplatin chemotherapy. However, no response was observed and she died of disease 2 months postoperatively.

Cowden Syndrome (CS) is an autosomal dominant disorder characterized by hamartomatous growth in several organs and by an increased risk of malignancies, which makes its recognition essential to undertake risk reduction measures. Although the involvement of gastrointestinal tract is extremely common, awareness of this entity among gastroenterologists appears limited. We report on two unrelated patients: a 46-year-old male and a 38-year-old woman, who were referred to the Genetic Clinic because of the endoscopic finding of multiple colorectal polyps. Despite both displayed striking clinical (and, in the first case, familial) manifestations of Cowden Syndrome (PTEN Hamartoma Tumor Syndrome-PHTS), they had not been recognized before. Diagnosis of PHTS was confirmed by the detection of causative PTEN variants. Pathological examination of the polyps showed multiple histology types: hyperplastic, juvenile, serrated and lymphoid. Hyperplastic polyps analyzed from both patients failed to show BRAF V600E and KRAS codon 12/13 mutations, which provides evidence against their potential to evolve to colorectal cancer through the serrated pathway. We then reviewed the literature on gastrointestinal polyps detected in patients with Cowden Syndrome, in order to provide a comprehensive scenario of presentations: among a total of 568 patients reported in the literature, 91.7 % presented with colon polyps, with 63.0 % having two or more different histological types of polyps; besides, 58.5 % had extra-colonic polyps (located either in stomach and/or in small intestine). Finding multiple polyps with mixed and/or unusual histology should alert gastroenterologists and pathologists about the possible diagnosis of Cowden Syndrome and prompt the search for other manifestations of this condition in the patient., (Copyright © 2021 Elsevier GmbH. All rights reserved.)

Background: Dysplastic gangliocytoma is a sporadic cerebellar benign tumor with the characteristics of hamartoma and true tumor, also known as Lhermitte-Duclos disease (LDD). Bone fibrous dysplasia (FD) is a slowly progressive self-limited benign bone tissue disease. Cowden syndrome, an autosomal dominant genetic disorder caused by germline mutations in the PTEN gene, is considered to be closely related to dysplastic gangliocytoma. McCune-Albright syndrome is a disease characterized by café-au-lait skin macules, polyostotic FD, and precocious puberty. The etiologic mechanism of both conditions is not yet clear. We report a rare case of bilateral dysplastic gangliocytoma with concurrent polyostotic FD., Case Description: We describe a 16-year-old boy with both LDD and FD. He presented for medical examination with headache and poor eyesight. Magnetic resonance imaging revealed proliferation of the skull and abnormal signals in the cerebellum, and supratentorial hydrocephalus. Subtotal resection of the cerebellar tumor was performed, and the diagnosis of LDD and FD was confirmed by histopathology. No other abnormal changes were found in systemic medical examination and no PTEN gene mutation was found in the genetic analysis; therefore, the diagnoses of Cowden syndrome and McCune-Albright syndrome were excluded., Conclusions: LDD and FD are 2 rare diseases, and the simultaneous occurrence of the 2 conditions has not been reported before, to our knowledge. Our report challenges the etiology of the 2 diseases and the relationship between them, hoping to provide a reference for the study of the 2 diseases., (Copyright © 2020 Elsevier Inc. All rights reserved.)

Background: Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found. The relevance of the case is due to the fact that, through a certain phenotype, the patient's genotype can be inferred and thus followed up closely., Case Representation: The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, and cognitive impairment. She was diagnosed with papillary thyroid carcinoma at 22 years of age and proposed total thyroidectomy. At age 27, a pregnancy was diagnosed with a Breast Imaging-Reporting and Data System 2-rated breast lump. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. A genetic evaluation confirmed alteration in the phosphatase and tension homolog gene, confirming Cowden's syndrome. The patient died at age 29 due to neoplastic pathology., Conclusion: This report aims to alert to the clinical signs of this entity and the clinical supervision and follow-up of these patients. In order to prevent premature deaths and to improve patient's quality of life, genetic diseases with cancer impact should be diagnosed as early as possible.

Background: Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. Patients can present with symptoms of increased intracranial pressure. Magnetic resonance imaging (MRI) will reveal a characteristic laminar/tigroid appearance. Surgical management has been superior to conservative measures for symptomatic lesions. The outcomes for bilateral craniotomy have not yet been described., Case Description: A 50-year-old patient with Cowden syndrome had initially presented with vertigo and imbalance. T2-weighted MRI showed a striated pattern of hypointensity and hyperintensity in bilateral cerebellar hemispheres consistent with Lhermitte-Duclos disease. He underwent right posterior fossa craniotomy with near total surgical resection and achieved symptom resolution. However, 3 years later, asymptomatic recurrence of the right-sided LDD and progression of left-sided LDD were noted. These were managed with a 1-year course of temozolomide. Both lesions remained stable until 4 years after completion of temozolomide. MRI demonstrated progression in the left hemisphere requiring a second surgical resection. PTEN analysis of the resected lesion was negative for mutation., Conclusions: To the best of our knowledge, the present case is the first reported case of bilateral cerebellar hemisphere LDD ultimately managed by temporally dissociated bilateral surgical resections. Our patient was unique in that he had undergone surgery for resection of LDD, followed by a second surgery for contralateral progression 8 years later. The therapeutic options to prevent recurrence are limited, although temozolomide did seem to impede progression. Symptomatic patients will typically benefit most from surgical intervention. Given the strong association between adult LDD and Cowden syndrome, maintaining close follow-up care and possible surveillance imaging will be essential., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Introduction: Hamartomatous polyposis syndromes (HPS) are rare autosomal-dominant inherited disorders associated with gastrointestinal (GI) tract and other cancers. HPS include Peutz-Jeghers syndrome (PJS), juvenile polyposis syndrome (JPS), and phosphatase and tensin homolog hamartomatous tumor syndromes (PHTS). Diagnosis, management, and outcome prediction of HPS pose a clinical challenge. To characterize genotype, phenotype, histology and outcomes of individuals with HPS., Methods: A retrospective cohort study (2004-2017) of consecutive patients that were clinically diagnosed with HPS that visited a specialized GI oncology clinic. Demographic, clinicopathological, and genetic data were obtained from medical records., Results: Fifty-two individuals from 34 families were included. Common clinical manifestations were GI bleeding (40% JPS, 23% PJS, and 25% PHTS) and bowel obstruction (46.15% PJS and 11.4% JPS). Twenty patients (38.4%) underwent surgery, 5 of whom required multiple procedures. Higher polyp burden was associated with the need for surgery (P = 0.007). Polyp histology varied widely with 69.2% of patients exhibiting histology different from the syndrome hallmark. GI cancer history was positive in 65%, 40%, and 50% of JPS, PJS, and PHTS families, respectively. Five (9.6%) patients developed cancers (one patient each had small bowel-1, colon-1, and thyroid-1, one patient had both small bowel adenocarcinoma and breast cancer, and one had both breast cancer and liposarcoma). Twenty (38.4%) patients tested positive for STK11, PTEN, SMAD4, BMPR1A, or AKT1 mutations: Sanger sequencing and multi-gene next generation sequencing panels detected mutations in 40.9% and 100% of tested cases, respectively., Discussion: HPS patients present versatile phenotypes with overlapping clinical and histological characteristics. Polyp burden is associated with the need for surgery. Next-generation sequencing increases mutation detection.

Background: Dysplastic gangliocytoma of the cerebellum, also called Lhermitte-Duclos disease (LDD), is known as a rare, benign brain tumor. Around 200 cases have been reported., Case Description: Here we introduced a newly diagnosed adult case with intratumoral hemorrhage. Then we reviewed 18 cases diagnosed in our institute, including 12 adults and 6 children., Conclusions: Preoperative diagnosis based on magnetic resonance imaging is 50% in adults and 16.7% in pediatrics. Diagnostic tiger stripes are not always seen in pediatric cases. The prognosis of the disease is good if total resection can be achieved. Further examinations for PTEN mutation and other comorbidities are recommended., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Cowden syndrome (CS) is an autosomal dominant mendelian disease related to germline pathogenic variants affecting the PTEN -gene. CS is characterized by macrocephaly, mucocutaneous lesions, and an increased risk of breast and thyroid cancers. Rare ovarian cancer cases (mostly embryonic tumors) associated with PTEN have been described in the literature, but no current CS guidelines are available for ovarian cancer risk management. We report on a woman diagnosed with ovarian clear cell carcinoma (OCCC) at 28 years of age. The patient displayed macrocephaly, trichilemmomas, oral papillomatosis, and acral keratosis. A family history of multiple cancer cases within the PTEN -related tumor spectrum was identified. In addition, PET scan and fine-needle biopsy results led to a diagnosis of thyroid follicular neoplasia. PTEN sequencing revealed that she carried a germline inherited pathogenic variant in exon 5 c.388C>T, p.(Arg130*) (NM_000314). Somatic mismatch repair immunohistochemistry analysis showed normal expression, and germline BRCA1/2 sequencing did not reveal pathogenic or likely pathogenic variants. An ovarian cell immunohistochemistry analysis reported total loss of PTEN expression, which strongly suggested the role of PTEN in the oncogenesis of this cancer. Hence, a total thyroid resection was performed instead of thyroid lobectomy and a risk-reducing bilateral mastectomy was discussed. Co-occurrence of this pathogenic germline mutation in PTEN in this patient, early development of OCCC at age 28 years, and total loss of PTEN expression in the tumor might support the involvement of PTEN in the carcinogenesis of her ovarian cancer. We describe a new ovarian cancer case with an atypical histologic type-clear cell carcinoma-in CS. This observation might be the first indication of the need to expand the PTEN -related tumor spectrum to incorporate OCCC. The CS diagnosis significantly changed the therapeutic outcome of this patient., (Copyright © 2019 by the National Comprehensive Cancer Network.)

Background: Lhermitte-Duclos disease (LDD) is a rare neurologic disease that causes a hamartomatous lesion in the cerebellum. LDD is usually associated with mass lesion effects, but with appropriate surgical treatment, the clinical course is usually benign. We report a rare case of a patient with LDD with contrast enhancement on magnetic resonance imaging (MRI) who died as a result of intratumoral hemorrhage., Case Description: LDD was diagnosed in a 59-year-old woman after a routine MRI. She did not present with any symptoms initially or after follow-up MRI suggested minor hemorrhage in the tumor. Eleven months after her first visit to our department, she suddenly lost consciousness, and computed tomography revealed massive intratumoral hemorrhage. Surgical decompression was done, but she died 17 days after surgery. Histopathologic findings were consistent with LDD., Conclusions: Hemorrhagic events can occur with LDD, even though the growth of the lesion is slow. Long-term close follow-up of patients with LDD is needed, especially patients in whom MRI shows atypical enhancement. To avoid possible hemorrhagic events, surgical treatment should be considered even if only subtle changes are seen on neuroimaging., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors. However, only a few reports have investigated the relationship between Cowden disease and vascular malformations. We present a case of Cowden disease along with a review of the literature., Case Presentation: The patient was a 48-year-old man who visited our hospital complaining of fresh blood in his stools and shortness of breath. Hematological tests showed the patient had severe anemia. On physical examination, white papules-several millimeters in size-were observed between the patient's eyebrows. White papules were also observed on the left corner of his mouth and buccal mucosa. An upper gastrointestinal endoscopy showed densely-packed, white, flat protrusions in the esophagus. While lower gastrointestinal endoscopy revealed a mass accompanied by arterial pulsation in the sigmoid colon. A diagnosis of Cowden disease was confirmed and a laparoscopic sigmoidectomy was performed to address the arteriovenous malformations in the sigmoid colon. Post-surgery, the patient had an unremarkable recovery and was discharged 7 days later., Conclusions: We present a very rare case of Cowden disease with arteriovenous malformations occurring in the colon. Surgical resection is believed to be the first choice for treating congenital arteriovenous malformations of the intestines. However, the arteriovenous malformations in the colon in our patient were treated under laparoscopic guidance, making ours the first report describing laparoscopic treatment of colonic arteriovenous malformations occurring in the inferior mesenteric artery. Thus we demonstrate that laparoscopic treatment of arteriovenous malformations in the intestines is a minimally invasive and can be successfully applied in such cases.

Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness, bone pain, and pathological fractures. Recent studies suggest that fibronectin-fibroblast growth factor receptor 1 (FN1-FGFR1) translocations may be a driver of tumorigenesis. We present a patient with TIO who also exhibited clinical findings suggestive of Cowden syndrome (CS), a rare autosomal dominant disorder characterized by numerous benign hamartomas, as well as an increased risk for multiple malignancies, such as thyroid cancer. While CS is a clinical diagnosis, most, but not all, harbor a mutation in the tumor suppressor gene PTEN. Genetic testing revealed a somatic FN1-FGFR1 translocation in the FGF23-producing tumor causing TIO; however, a germline PTEN mutation was not identified. To our knowledge, this is the first reported case of concurrent TIO and CS.

Objective: LDD is a rare lesion, controversy about diagnosis and treatment of LDD and CS still exists. We aimed to clarify clinical and radiological characteristics, the optimal treatment timing and strategies of LDD with long-term follow-up., Patients and Methods: From January 2004 to May 2017, 12 LDD patients were enrolled in our study. The clinical and radiological features, treatment strategies and long-term follow-up data were retrospectively analyzed., Results: The mean follow-up was 89.1±36.9 months (range, 31-161months). Twelve patients (7 males and 5 females, mean age 28.0±14.8 years, range 3-55 years) were included in this study. The most frequent symptoms were those related to increased intracranial pressure. Mean duration of symptoms was 15.6±9.5 months. Average tumor size was 62±9.3mm in its maximal diameter (range, 50-84mm). Tonsillar herniation and preoperative hydrocephalus were observed in 9/12 and 12/12 patients. Four of them confirmed the diagnosis of CS. Gross total resection were achieved in 3 patients, partial in 6 patients and subtotal in 3 patients. All patients experienced improvement of symptoms. Recurrence and progression were identified in only 1/12 patient., Conclusions: LDD has pathognomonic appearance on T2-weighted MRI. We recommend surgery decision should be based on symptoms appearance or progress in imaging. Total resection is difficult due to the indistinct tumor margin, favorable outcome and rare recurrence were also observed despite of partial or subtotal resection in our series. A long-term screening for Cowden's disease and tumor recurrence is essential for every patient., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Lhermitte-Duclos disease (LDD) is a neurological disease caused by a hamartomatous lesion in the cerebellum. Clinically, LDD is commonly associated with progressive space-occupying lesion effects in the posterior fossa, increasing intracranial pressure, occlusive hydrocephalus, and focal neurological deficits of adjacent structures. The authors report the case of a 10-year-old boy with LDD who had been suffering from vomiting attacks (VAs). These VAs had been brief in duration but extremely frequent, and they had been resistant to antiemetic drugs since the early postnatal period. Magnetic resonance imaging at 8 months of age revealed a right cerebellar lesion with very little space-occupying lesion effect, but the causal relationship with VAs was not evident at that point, because no clinical symptoms or signs other than vomiting were suggestive of increased intracranial pressure. The VAs were initially diagnosed as autonomic ataxia and had been treated with antiemetic drugs for approximately 10 years, but the patient's symptoms were not improved at all in frequency or duration. He developed convulsive seizures at 9 years of age and was referred to the authors' epilepsy center. The VAs were initially speculated to represent an aspect of seizures, but antiepileptic agents proved ineffective against this symptom despite remission of convulsive seizures. Video-electroencephalography monitoring did not show any evolving ictal patterns associated with the vomiting. Careful reevaluation of MRI studies revealed that the cerebellar lesion was fused with the cerebellum, middle and inferior cerebellar peduncles, and dorsolateral medulla oblongata with some distortion. FDG-PET identified hypermetabolism in the cerebellar lesion. After establishing the diagnosis of LDD, the authors performed subtotal resection of the lesion based on the likelihood of a causal relationship between the cerebellar lesion and the vomiting center of the medulla oblongata. Postoperatively and for 2 years, VAs have remained completely suppressed. The authors hypothesize that the pathophysiology of VAs in LDD includes a tumor-like space-occupying effect on the vomiting center of the medulla oblongata, and even partial resection of the lesion may prove effective.

Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and tensin homologue gene, a tumour suppressor gene, located on 10q23 chromosome. The expressivity of this genodermatosis is highly variable, therefore many of the cases remain undiagnosed. Skin and mucous findings are very common in Cowden syndrome and may represent the initial clinical manifestation leading to the diagnosis. The authors describe a case of a 58-year-old man with multiple cutaneous sclerotic fibromas associated with a previously unrecognised Cowden syndrome., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Ectopic meningothelial proliferations are rare and can occur in a multitude of extracranial/spinal anatomic locations. Perineurioma is another uncommon entity that shares similar histological characteristics to those found in meningothelial proliferations. These include bland spindle cells with thin, bipolar nuclei; eosinophilic cytoplasm; and indistinct cell borders, arranged in short fascicles with whorl formation. Given their uncommon occurrence and shared histological and immunohistochemical features, their distinction can present a diagnostic challenge. Immunohistochemical studies can provide guidance when attempting to distinguish between these 2 lesions. Here, we present an unusual case of a patient with Cowden syndrome who was discovered to have a meningothelial proliferation within an axillary lymph node. To the best of our knowledge, this is the first case in which a meningothelial proliferation has been identified in a lymph node. Furthermore, the occurrence in a patient with Cowden syndrome is intriguing and raises the possibility of a pathogenetic link., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Background: Adult-onset Lhermitte-Duclos disease (LDD) and Cowden syndrome (CS) are considered a single phakomatosis that belongs to PTEN hamartoma tumor syndrome (PHTS) now. There is still controversy regarding the diagnosis and treatment. The authors describe the clinical features of LDD and CS with long-term follow up., Methods: From January 2001 to January 2017, 18 patients were admitted to the neurosurgery department of Beijing Tiantan Hospital. The authors analyzed the medical records of each patient and followed every case., Results: Seventeen of 18 patients underwent surgery to remove the tumor. The results of pathologic analysis revealed LDD. There was obvious enhancement on magnetic resonance imaging (MRI) in 2 patients who received gamma knife and radiotherapy before surgery. During surgery, it is difficult to determine the exact margin. Tumors were removed gross totally in 9 patients, partially in 6 patients, and only subtotally in 2 patients. CS was diagnosed in 11 patients. Two patients received DNA analysis, revealing heterozygous mutation of exon 5 in an 11-year-old girl. There was no recurrence of the tumor during follow-up., Conclusions: LDD has the unique appearance on T2-weighted MRI. The most difficult aspect of surgery is determining the actual margins of the tumor. Total resection is difficult in some patients. There was no tumor recurrence after long-term follow-up in our case series. For pediatric LDD patients, DNA analysis should be performed to rule out CS., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Basal cell carcinoma is the most frequent cutaneous neoplasm, with slowly progressive nature and locally invasive behavior. Despite the low metastatic potential, local tissue destruction and disfigurement caused by the tumor can be large if not eradicated in time by early diagnosis and treatment. Both genetic predisposition and exposure to environmental risks are involved in the pathogenesis of the malignant transformation in BCC. The total number of nonmelanocytic skin cancers is a risk factor for recurrence of previous tumor, on the one hand, as well as for the formation of new ones, on the other. It is still unclear what environmental and genetic factors contribute to the development of multiple nonsyndromic BCCs. We present a man with multiple sporadic, nonsyndromic BCCs, with a history of even more lesions, removed earlier, as we discuss the potential triggering risk factors and pathogenic mechanisms of malignant transformation and the further appropriate therapeutic options. The early detection and eradication of these tumors are of importance for treatment effectiveness and quality of life because although rarely metastatic, BCCs could have an aggressive course and behavior which can lead to severe disfiguration and destruction.

We report a rare case of arteriovenous malformation(AVM)of the parotid gland associated with Cowden disease successfully treated with preoperative embolization followed by surgical removal. A 39-year-old man with a history of Cowden disease presented with a pulsating and growing mass on his left lower jaw. Contrast-enhanced computed tomography(CT)and angiography revealed a high-flow AVM in the deep lobe of the left parotid gland. After intravascular embolization of the feeding arteries, surgery was performed using the NIM-response ® 3.0, facial nerve monitoring system. The AVM was almost completely removed and the facial nerves were morphologically preserved. Interestingly, the intraoperative findings revealed that the enlarged vasa nervorum of the facial nerve also fed the AVM. Although left facial nerve palsy appeared after the surgery, the nerve function gradually improved over one year. No recurrence of the AVM has been observed for one year.

Background: Preoperative delineation of normal tissue displacement patterns in Lhermitte-Duclos disease has not been feasible with conventional imaging means. Surgical resection of this type of lesion remains challenging, because the boundaries of the lesion are indistinguishable during surgery., Case Description: The clinical presentation, preoperative and postoperative magnetic resonance imaging (MRI) findings, high-definition fiber tractography (HDFT) and histopathological studies, are presented in a 46-year-old male subject with symptomatic Lhermitte-Duclos disease. HDFT was performed using a quantitative anisotropy-based generalized deterministic tracking algorithm to define fiber tracts. Displacement of the cerebellar and brainstem tracts on the affected side was performed using the unaffected contralateral side as a comparison. The displacement of the normal tissues was not apparent on preoperative MRI but was immediately evident on the preoperative HDFT. Of note, there was a relative paucity of fiber tracts within the lesion. By tailoring our operative boundaries based on the HDFT findings, we were able to spare the displaced fiber tracts when debulking the tumor. Restoration of normal fiber tract anatomy on postoperative HDFT imaging was correlated with clinical resolution of preoperative symptoms., Conclusions: This case report suggests that HDFT may be a powerful surgical planning tool in cases of Lhermitte-Duclos disease, in which the pattern of normal tissue displacement is not evident with conventional imaging, allowing maximal lesion resection without damage to the unaffected tracts. Therefore, this report contributes to solving the greatest challenge when operating on this type of lesion, which has not been resolved in any previous report in our review of the English literature., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Cowden syndrome is a phosphatase and tensin homologue on chromosome ten (PTEN) hamartoma tumour syndrome. The loss of function of the PTEN protein is associated with the risk of development and progression of several types of tumours, such as pulmonary neuroendocrine tumours and carcinoids. We present a 65-year old male non-smoker, who was diagnosed with Cowden syndrome and had a pulmonary tumour. He underwent wedge resection via video-assisted thoracoscopic surgery and was histopathologically diagnosed with an atypical carcinoid. To our knowledge, this is the first report on a pulmonary atypical carcinoid in a patient with Cowden syndrome. The present findings suggest a potential link between phosphoinositide-3 kinase/protein kinase B signalling in Cowden syndrome and the development of pulmonary neuroendocrine tumours, such as carcinoids., (© The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

A 16-year-old African American male, the youngest patient to date, presented with a well-circumscribed upper eyelid lesion. On excision, the dermal nodule was contiguous with the epidermis, displayed trichohyalin-like bodies in an expanded outer root sheath, and was composed chiefly of small cellular clusters separated by a prominent network of periodic acid Schiff -positive hyaline bands of basement membrane material. The tumor cells were positive for high molecular weight cytokeratins (CK) 5/6, CK14, and CK34βE12 and were negative for CK7, carcinoembryonic antigen and epithelial membrane antigen. Negative S100, glial fibrillary acidic protein, and smooth muscle actin immunoreactions ruled out a myoepithelial lesion. The Ki-67 proliferation index was <10%. The diagnosis was a hyalinized trichilemmoma, contrasting with the more common lobular type. As an isolated lesion, trichilemmoma does not portend Cowden syndrome.

We describe a patient with a severe juvenile polyposis phenotype, due to a de novo deletion of chromosome 10q22.3-q24.1. He was initially diagnosed with Juvenile polyposis syndrome (JPS) at age four after presenting with hematochezia due to multiple colonic juvenile polyps. He then re-presented at 23 years with recurrent hematochezia from juvenile polyps in his ileoanal pouch. He is one of the earliest reported cases of JPS associated with a large deletion of chromosome 10. Since his initial diagnosis of JPS further studies have confirmed an association between JPS and mutations in BMPR1A in chromosome band 10q23.2, which is in close proximity to PTEN. Mutations in PTEN cause Cowden syndrome (CS) and other PTEN hamartoma tumor syndromes. Due to the chromosome 10 deletion involving contiguous portions of BMPR1A and PTEN in our patient, he may be at risk for CS associated cancers and features, in addition to the polyps associated with JPS. This case presents new challenges in developing appropriate surveillance algorithms to account for the risks associated with each syndrome and highlights the importance of longitudinal follow-up and transitional care between pediatric and adult gastroenterology for patients with hereditary polyposis syndromes., (© 2015 Wiley Periodicals, Inc.)

Although previous reports purpored that the unique magnetic resonance imaging (MRI) features of Lhermitte-Duclos disease (LDD) obviates the need for biopsy, we have made a misdiagnosis of LDD which has an indistinguishable imaging appearance. We present a patient who suffered from a normal cerebellum with arachnoid vascular malformation that had imaging characteristics which were indistinguishable from LDD before operation. This atypical imaging appearance, which could potentially be confused with LDD, may lead to misdiagnosis and inappropriate treatment in the absence of tissue sampling. Thus, this finding suggests that in those patients where images are highly suggestive of LDD but lack other manifestations of Cowden syndrome, biopsy is required and advanced imaging with magnetic resonance spectroscopy (MRS) should be strongly considered.

A 6-year-old boy with Bannayan-Riley-Ruvalcaba syndrome (BRRS) presented to the emergency department with periumbilical abdominal pain for 12 h. A contrast-enhanced abdominal and pelvis CT examination revealed significant interval change in the size and appearance of a previously seen hypoattenuating right mesocolic fatty mass suggestive for lipoma, first observed 5 months prior. This lesion demonstrated new enhancing internal septations, a thickened capsule, interval development of adjacent mesenteric fat stranding and engorgement of the mesenteric vessels. Given the short follow-up interval and acute clinical presentation, imaging findings were suggestive for torsion. We present this case for the unusual imaging findings as well as to highlight the differential diagnosis for abdominal fat containing lesions by imaging in patients with BRRS and other hamartomatous syndromes.

A 75-year-old man with Lhermitte-Duclos Disease (LDD) manifesting as progressive headache is presented. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance". A mild mass effect was evident at the medulla oblongata, accompanied by inferior displacement of the right cerebellar tonsil. Thus, tonsillar herniation was considered the cause of his headache and he underwent partial resection of the tumor to solve tonsillar herniation. His headache gradually improved. LDD in the elderly is quite rare. Several differences in the nature of the lesion are seen in the elderly, with tendencies toward a male predominance, hypervascularity, and low rates of association with Cowden disease. Moreover, partial resection to reduce mass effect can improve clinical symptoms without recurrence. In symptomatic LDD in the elderly, to avoid surgical complication, we recommend partial resection to reduce mass effect.

Introduction: Lhermitte--Duclos disease is a rare autosomal dominant inherited disorder characterized by the loss of the normal cerebellar cortex architecture and hamartoma formation in the cerebellar hemispheres. Most commonly, this disease manifests in the third and fourth decades of life. Approximately 220 cases of Lhermitte--Duclos disease have been reported in medical literature to date., Material and Methods: The authors describe successful two-stage surgical treatment of a young female patient with Lhermitte--Ducos disease., Conclusion: This case report familiarizes practitioners with the clinical manifestations and neuroimaging features of Lhermitte--Duclos disease that facilitates timely diagnosis and proper treatment of the condition.

Lhermitte-Duclos disease (LDD) or cerebellar gangliocytoma is a rare pathological entity, the etiology of which remains controversial. Numerous developmental anomalies are known to be associated with LDD, but the association between LDD and split cord malformation (SCM) has not been reported to our knowledge. We report LDD in a 3-year-old girl in whom repetitive urinary tract infections led to the diagnosis of a neurogenic bladder. Thorough screening revealed a SCM at the thoracic level which was surgically repaired. The pathogenesis of this entity and management strategies are discussed in this paper., (Copyright © 2014 Elsevier Ltd. All rights reserved.)

Basal cell nevus syndrome is an autosomal dominant disorder characterized by the developmental malformations and its carcinogenic nature. This syndrome shows various symptoms of multiple cutaneous basal cell carcinoma, ketatocystic odontogenic tumors, and inborn abnormalities in the bone and skin. Although basal cell nevus syndrome itself is a rare disorder, we experienced a very rare case in which squamous cell carcinoma of the oral cavity developed, and not cutaneous basal cell carcinoma. Only 4 similar cases have been reported in the English literature. The patient was a 33-year-old woman. She was diagnosed as having squamous cell carcinoma of the hard palate, and basal cell nevus syndrome in our hospital. The patient underwent surgery for squamous cell carcinoma of the hard palate, with postoperative chemoradiothetrapy. Since patients with this syndrome tend to form basal cell carcinoma when exposed to X-ray radiation, we perform radiotherapy with care.

Background: Cowden syndrome is an autosomal-dominant hereditary cancer syndrome with high variability and susceptibility. It is characterized by multiple hamartomas and neoplasms of ectodermal, endodermal and mesodermal origin affecting many organs and also by the increased risk of development of internal malignancies., Case Report: A 62-year-old woman was referred to our Maxillofacial Unit with a hamartomatous mass of the left lateral tongue which had slowly grown and was obstructing normal speech and restricting oral intake. The patient had a known history of Cowden syndrome and underwent excision of the lesion under general anaesthetic., Discussion: Orofacial mucocutaneous features are very common in multiple hamartoma and neoplasia syndrome with almost up to 90% of the patients being affected. These cutaneous and mucosal lesions, which are predominantly benign, often manifest prior to the development of the internal malignant tumours associated with the syndrome., Conclusions: The prompt identification of Cowden syndrome's plethoric signs and symptoms can lead to appropriate surveillance and multidisciplinary management. Oral manifestations are frequent, prominent and usually precede the establishment of malignant tumours of visceral organs; hence, the maxillofacial surgeon or general dentist may have a significant role in the recognition of the disease. Overall prognosis is dependent on prevention or early treatment of internal malignancies; consequently, early diagnosis together with frequent follow-up forms the cornerstone of management.