Cystic Hamartoma Research Articles

Does a retrorectal tumour remain a challenge for surgeons?

Background: Retrorectal tumours are lesions with a wide range of histological differentiation that are often diagnostic and clinical challenges due to their rare occurrence. Many cases of this pathology are treated in regional hospitals, which results in serious complications because physicians fail to recognize this pathology. We present our experience in treating these tumours.Methods: A retrospective analysis of a prospectively maintained database was performed using the Vilnius University Hospital Santaros Clinics patient database. Thirty-five cases were identified.Results: Occurrence of retrorectal tumours was higher in women than in men and accounted for 82.86% and 17.14%, respectively. Computer tomography and magnetic resonance imaging were the main methods used to confirm diagnosis and plan surgical treatment. We have used a laparotomy, perineal or combined approach for tumour extirpation. The laparotomy approach was the most used, followed by perineal extirpation. The most common histological type was cystic hamartoma, accounting for 20% of cases. In 80% of cases, the histological findings greatly varied. Hospital stays varied from 3 to 21 days with a mean of 11.6 ± 5.83 days. The postoperative complication rate was 17.14% and was present in six cases. Overall survival was 85.17%, with an average follow-up period of 71.83 months. There were no recurrent tumours diagnosed during follow-up.Conclusion: Retrorectal tumours are a very rare pathology with high histological heterogeneity and problematic diagnostics. Patients should be referred to a tertiary centre that has experience and diagnostic capabilities for the best diagnostic and treatment options.

Polycystic Kidney-like Disease in a Red-ear Slider Turtle (Trachemys scripta elegans)

A 14-year-old red-ear slider turtle (Trachemys scripta elegans) with no history of pre-existing clinical disease died and was referred for necropsy examination. Grossly, oesophageal prolapse, bilateral renal cysts and a paraduodenal cystic mass were detected. Tissues were processed routinely for histology and immunohistochemistry (IHC) with primary antibodies specific for Wilm's tumour suppressor gene-1 (WT-1), insulin, glucagon and pancytokeratins. Microscopically, renal medullary cysts and medullary atrophy resembled the changes associated with polycystic kidney disease (PKD). The cysts of the paraduodenal mass were lined by ciliated epithelial cells resembling embryonal cells and were intensely positive for glucagon and insulin by IHC. There was no cytokeratin expression in either lesion. WT-1 expression in the paraduodenal mass was cytoplasmic and appeared non-specific. Lesions were consistent with renal PKD-like disease and a pancreatic cystic hamartoma.

Ethylene vinyl alcohol copolymer for occlusion of specific portal branches during preoperative portal vein embolisation with n-butyl-cyanoacrylate.

To evaluate the safety and efficacy of ethylene vinyl alcohol copolymer (EVOH) injection for selective occlusion of portal branches considered at risk for non-target embolisation during preoperative portal vein embolisation (PVE). Twenty-nine patients (mean age, 57 ± 17 years) submitted to PVE with n-butyl-cyanoacrylate (NBCA) and additional EVOH for selected portal branches were retrospectively analysed. Indications for the use of EVOH and the selected portal branches were evaluated. Degree of hypertrophy of the future liver remnant (FLR) and kinetic growth were assessed by CT volumetry performed before and 3-6 weeks after PVE. Clinical outcome and histopathological analysis of portal veins occluded with EVOH were reviewed. EVOH was indicated intraoperatively for embolisation of selected portal branches that the operator reported at risk to provoke non-target embolisation with NBCA. Indications for the use of EVOH were embolisation of segment IV (n = 21), embolisation of segmental portal branches with early bifurcation (n = 7) and PVE in a 1-year-old girl with cystic hamartomas. All targeted portal branches were successfully embolised. There were no cases with non-target embolisation by EVOH. The degree of hypertrophy of the FLR was 14.3 ± 8.1% and the kinetic growth rate was 2.7 ± 1.8% per week. EVOH is safe and effective for embolisation of selected portal vein branches considered at risk for non-target embolisation. • EVOH is another effective liquid embolic agent for preoperative PVE. • EVOH is relatively simple to handle with a minimal risk of non-target embolisation. • During PVE, some portal branches considered complicated to occlude with NBCA may be efficiently embolised with EVOH.

A case of folliculosebaceous cystic hamartoma: a rare and clinically indistinct lesion

We report a case of a slowly growing papule on the nasal bridge of an elderly woman. Histopathological findings revealed a very unusual type of folliculosebaceous cystic hamartoma with a retiform and primitive epithelial proliferation associated with the stromal component. Folliculosebaceous cystic hamartoma is an uncommon lesion that involves a cystically dilated follicle embedded in a stroma of distinct mesenchymal tissue. Because folliculosebaceous cystic hamartoma is a rare and clinically indistinct lesion, clinical photographs of the lesion are not widely available. A recent search on PubMed revealed less than 50 published articles on folliculosebaceous cystic hamartoma; among these manuscripts there was a scarcity of clinical images of the lesion. This disparity is to be expected as the lesion typically has a very indistinct presentation. We thus describe an inconspicuously appearing case of folliculosebaceous cystic hamartoma to bring attention to the indistinct clinical morphology of the lesion and to report a histopathologically uncommon variant.

Case Series – Retrorectal Cystic Hamartomas

The retrorectal presacral space is a not very common site for neoplastic tumors Retrorectal cystic hamartomas RCHs or tailgut cysts TGCs are rare congenital lesions typically presented as presacral masses Due to its potential of infection fistulas and malignancy early diagnosis and surgical treatment are mandatory In this article it is described the clinical radiological and pathological features of five cases

Diagnosis of Tailgut Cyst in Gynecologic Patients: Systematic Review of the Literature

Tailgut cysts, also called retrorectal cystic hamartomas, are rare findings that usually occur in the retrorectal space. The incidence is estimated to be about 1 in 40,000.The aim of our review is to evaluate the potential pitfalls in the diagnosis of this rare pathologic condition, according to diagnostic procedures for this rare but misleading and subtle entity.We conducted a Medline literature review of the English literature discussing tailgut cysts in female patients. We concentrated on imaging technology used for diagnosis in gynecologic patients. For our search, we used the key words “tailgut cyst”, “retrorectal cystic hamartoma”, “gynecology”, focusing on clinical presentation, imaging technology used for diagnosis, presence of malignancy, and misdiagnosis with more common gynecologic pathology.Our search revealed 143 articles during the years 1975–2016 and, of these, 30 articles describing 91 female patients were considered.We concluded that tailgut cyst should be included in the differential diagnosis of pelvic lesions in gynecologic patients.

Colonic Submucosal Cyst

AbstractTailgut cyst (cystic hamartoma) is a congenital malformation that is typically found in the presacral (retrorectal) space, a remnant of the postnatal hindgut. The lining may be columnar, squamous, or transitional. The rectal wall is rarely involved. We present a case of a submucosal lesion i

Unusual presentation for a tailgut cyst

A 67-year-old man with a slow-growing, asymptomatic perianal lesion was presented to the colorectal clinic. Physical examination and radiological investigation were suggestive of an externally prolapsing colonic polyp. However, intraoperative...

Chronological changes in trichofolliculoma: Folliculosebaceous cystic hamartoma is not a very-late-stage trichofolliculoma.

Some authors have reported that the secondary hair follicles in trichofolliculomas (TF) undergo regressive changes and are subsequently replaced by the developed sebaceous elements, and that folliculosebaceous cystic hamartoma (FSCH) is a TF at a very late stage. In the present study, we revaluated the histopathological features of 40 TF lesions, focusing on their chronological changes. The results of the present study indicate that while the secondary follicles in the TF exhibited the hair cycle, the normal hair cycle was out of control, and tertiary hair follicles randomly developed from the involuting secondary follicles. The repeated development of hair follicles in this disordered hair cycle caused the development of chains of several continuous hair follicles in late-stage TF. In the TF lesions, no features indicating the replacement of the regressing secondary hair follicles by any sebaceous elements were observed, thereby suggesting that FSCH is not a very-late-stage TF.

Mesenchymal cystic hamartoma of the lung associated with diffuse alveolar damage

Introduction: Mesenchymal cystic hamartoma (MCH) of the lung is a clinicopathological and a rare entity with typical pathological features. Mesenchymal cystic hamartoma is characterized by cystic pulmonary lesions that tend to increase in size slowly. The pulmonary hamartomas usually are asymptomatic more especially when they are small in size. The treatment is conservative in asymptomatic patients. The ultimate treatment is surgical for the large and symptomatic lung mesenchymal hamartomas. Case Report: A six-month-old male neonate was referred from a regional hospital with a history of progressive shortness of breath and fever. The chest X-ray was performed and it showed a thin walled left lung cystic mass with mediastinal deviation to the right side. Computed tomography scan followed the chest X-ray and it confirmed large and smaller cysts with thin walls. Biopsy was performed and it confirmed the diagnosis of mesenchymal cystic hamartoma of the lung. Thoracotomy and the excision of the left lung cysts were done and later the neonate was discharged from the hospital without complications. Conclusion: It is of utmost importance to consider a cystic mesenchymal lung hamartoma in our differential diagnosis when dealing with cystic lung masses in children.

Spectrum of hepatobiliary cystic lesions: A 7-year experience at a tertiary care referral center in North India and review of literature.

Cysts arising from the hepatobiliary tree are a group of heterogeneous lesions with regard to pathogenesis, clinical presentation, and radiological finding. They can be intrahepatic or extrahepatic, developmental, secondary to infective/inflammatory etiologies, as well as neoplastic. This study was conducted to determine the spectrum of hepatobiliary cysts in surgically intervened cases, with regard to their prevalence, histological spectrum, and clinicoradiological correlation, wherever possible. In this retrospective observational study, hematoxylin and eosin stained slides of all cases of hepatobiliary cystic lesions, operated between 2009 and 2016 were reviewed. Special stains as reticulin, Masson's trichrome, and periodic acid Schiff were done wherever necessary. Overall prevalence, age-sex distribution, clinical presentation and histopathological patterns were studied. Relevant imaging findings were correlated wherever possible. A total of 312 cases of hepatobiliary cysts were identified, the majority in females. Choledochal cysts (CCs) were the most common type (n = 198,63.5%), followed by hydatid cysts (n = 73,23.3%), simple hepatic cysts (n = 10,3.2%), congenital hepatic fibrosis (n = 10,3.2%), biliary cystadenomas (n = 4,1.2%) hepatic mesenchymal hamartomas (n = 7,2.2%), and cavernous hemangiomas (n = 3,0.9%). Fibropolycystic liver disease (n = 2,0.6%), Caroli's disease (n = 1, 0.3%), liver abscess (n = 2, 0.6%), infantile hemangioendothelioma (n = 1,0.3%), and biliary cystadenocarcinomas (n = 1,0.3%) were rare. Lesions noted mostly in 1st decade of life were: CCs, fibrocystic liver disease, Caroli's syndrome, cystic mesenchymal hamartoma, and infantile hemangioendotheliomas. In our cohort of surgically intervened cases of hepatobiliary cystic lesions from a tertiary care hospital in North India, the CCs, followed by hydatid cyst were the most common lesions. Histology can play vital role in characterization, as often clinical findings and radiology can overlap.

Retrorectal cystic hamartoma: A case report

Introduction: Retrorectal hamartomas are congenital lesions that typically present themselves as pre-sacred tumor masses. Clinical manifestations are light and highly variable at presentation time, often leading to diagnostic difficulties and surgical failure. Case Report: A case of 46-year-old female who is referred to neurosurgery by her medical assistant with a few months history of paresthesia and decreased left lower limb muscle strength and more recently symptoms of gastrointestinal disorders (constipation, tenesmus and feeling of false wills). Imaging studies revealed a pre-sacral tumor with suspicion of nerve dependence on S4 and cystic nature. She underwent partial resection of the capsule of the lesion and aspiration of its contents by multidisciplinary team abdominal approach (general surgery/neurosurgery). The anatomopathological examination revealed a retrorectal cystic hamartoma. During follow-up the patient again developed tenesmus, false desires and the paresthesias of the left leg reappeared. The imaging tests confirmed a recurrence of the retrorectal hamartoma. The patient was again operated for block excision, this time by posterior approach. Conclusion: This case highlights the importance of retrorectal hamartomas as a differential diagnosis of presacral masses and it shows the difficulty in obtaining its diagnosis and treatment.

Folliculosebaceous cystic hamartoma

Folliculosebaceous cystic hamartoma

MRI of paediatric liver tumours: How we review and report.

Liver tumours are fortunately rare in children. Benign tumours such as haemangiomas and cystic mesenchymal hamartomas are typically seen in infancy, often before 6 months of age. After that age, malignant hepatic tumours increase in frequency. The differentiation of a malignant from benign lesion on imaging can often negate the need for biopsy. Ultrasound is currently the main screening tool for suspected liver pathology, and is ideally suited for evaluation of hepatic lesions in children due to their generally small size. With increasing research, public awareness and parental anxiety regarding radiation dosage from CT imaging, MRI is now unquestionably the modality of choice for further characterisation of hepatic mass lesions.Nevertheless the cost, length of imaging time and perceived complexity of a paediatric liver MR study can be intimidating to the general radiologist and referring clinician. This article outlines standard MR sequences utilised, reasons for their utilisation, types of mixed hepatocyte specific/extracellular contrast agents employed and imaging features that aid the interpretation of paediatric liver lesions. The two commonest paediatric liver malignancies, namely hepatoblastoma and hepatocellular carcinoma are described. Differentiation of primary hepatic malignancies with metastatic disease and mimickers of malignancy such as focal nodular hyperplasia (FNH) and hepatic adenomas are also featured in this review..Imaging should aim to clarify the presence of a lesion, the likelihood of malignancy and potential for complete surgical resection. Reviewing and reporting the studies should address these issues in a systematic fashion whilst also commenting upon background liver parenchymal appearances. Clinical information and adequate patient preparation prior to MR imaging studies help enhance the diagnostic yield.

Prolonged Air Leakage Caused by Mesenchymal Cystic Hamartoma of the Lung

A 16-year-old girl was transferred to the department of thoracic and cardiovascular surgery because of a spontaneous pneumothorax with prolonged air leakage. Chest computed tomography demonstrated a cystic lesion measuring 2×3 cm and involving the left upper lobe. Left upper lobectomy was performed via video-assisted thoracoscopic surgery. A pathologic examination of the specimen revealed a mesenchymal cystic hamartoma. Despite the rarity of pulmonary mesenchymal cystic hamartoma, it should be considered a potential cause of pneumothorax for patients with a large pulmonary cyst. Further, surgical resection must be considered because serious complications such as hemothorax, hemoptysis, and malignant transformation have been reported.

Unusual Case of Voiding Symptoms and Constipation: Retrorectal Cystic Hamartoma

Retrorectal cystic hamartoma (tailgut cyst) is a rare congenital lesion. This study is one of the few reports of this rare clinical entity causing irritative voiding symptoms and constipation in a male patient. Although most cases are asymptomatic, patients may present with symptoms resulting from local mass effect or complication.

Folliculosebaceous cystic hamartoma with neurofibroma: A rare association

Folliculosebaceous cystic hamartoma (FSCH) is a rare cutaneous hamartoma composed of follicular, sebaceous, and mesenchymal elements. Especially interesting is its differential with another benign tumor sebaceous trichofolliculoma with which it shares several histologic features. This case report highlights the association of FSCH with neurofibroma and discusses its possible common pathogenesis.

A Case of Late Stage Sebaceous Trichofolliculoma Showing Overlapping Features with Folliculosebaceous Cystic Hamartoma.

A Case of Late Stage Sebaceous Trichofolliculoma Showing Overlapping Features with Folliculosebaceous Cystic Hamartoma.

Tailgut cyst presenting as subcutaneous swelling along with true tail: A rare identity and review of literature

Tailgut cyst (retrorectal cystic hamartoma) is a rare known entity that has been described in the surgical and pathological literature. There may be delay in diagnosis and treatment owing to rarity and absence of definite features. We experienced an unusual case of retrorectal cystic hamartoma presenting as subcutaneous swelling and infected sinus along with true tail in sacrococcygeal region.

Classification of cysts with follicular germinative differentiation

Cysts are very common in the routine of dermatopathology but follicular germinative (trichoblastic) differentiation in cysts is seen rarely. The presence of follicular germinative differentiation in a cyst alerts to consider the possibility of a basal cell carcinoma (BCC) arising in a cyst. Five cystic lesions with zones of follicular germinative differentiation were collected. Hematoxylin and eosin sections were reassessed for architecture, types of follicular differentiation and stromal characteristics; immunohistochemical studies with Ber-EP4 were analyzed. Articles about follicular germinative differentiation in cystic lesions were reviewed. Cystic lesions with follicular germinative differentiation have been described in the literature under various names including trichoblastic infundibular cyst, cystic trichoblastoma, cystic panfolliculoma (CPF), dermoid cyst with basaloid proliferations, folliculosebaceous cystic hamartoma and BCC occurring in infundibular cysts. The lesions presented by us could be classified as three cystic trichoblastomas, one CPF and one cystic hamartoma with follicular germinative differentiation. Histopathologically, cystic trichoblastomas can be separated from CPFs. Some lesions defy classification and may be regarded as cystic follicular hamartomas. The presence of follicular papillae and bulb-like structures, advanced follicular differentiation like that of inner and outer root sheath exclude the differential diagnosis of BCC arising in a cyst.