Benign Congenital Lesions Research Articles

Radiographic imaging of human papillomavirus related carcinomas of the oropharynx.

Imaging, especially contrast-enhanced computed tomography (CECT) for anatomy and positron emission tomography (PET) with labeled (18)F fluorodeoxyglucose for physiologic detail, is critical for staging carcinomas of the oropharynx. As the incidence of human papillomavirus (HPV) infection and related carcinomas of the tonsil and base of tongue (BOT) increases, experience with CECT and PET for staging HPV+ tumors is growing. No imaging modality, however, can determine whether the tumor is HPV+. There are some unique challenges posed by HPV+ oropharyngeal squamous cell carcinoma (SCC). In most locations of the head and neck, a malignancy enhances more than surrounding normal structures, which facilitates tumor mapping. Unfortunately, normal lymphoid tissue of the oropharynx, in the BOT and palatine tonsillar fossa, enhances on CECT and gadolinium enhanced magnetic resonance imaging in a manner similar to SCC. The primary tumor may be small or even occult at presentation, and easily over-looked on CECT. PET coupled with CECT has made a true "unknown primary" very rare, as the metabolically active tumor is almost always detectable on PET. The nodal metastases, so common with HPV+ SCC, can be truly cystic; and as such, can be misdiagnosed as a second branchial cleft cyst, a congenital benign lesion. These pitfalls, coupled with the complex anatomy of the upper aerodigestive tract, make staging these tumors difficult. In this monograph we describe the anatomy of the oropharynx and review the imaging modalities available for staging. Figures highlight the points raised in the text.

Management of pediatric colloid cysts of anterior third ventricle: A review of five cases

Object:Colloid cysts are congenital benign lesions, associated with more aggressive clinical and radiological picture in children than in adults. We present our experience in management of five pediatric patients with colloid cyst of the anterior third ventricle. They have an excellent chance of surgical cure, or they can be devastating and even fatal, if not recognized on time and treated.Materials and Methods:Five pediatric patients (aged 16 years or less) who were surgically treated for a colloid cyst, between 1987 and 2011 were analyzed. The clinical features included raised intracranial pressure in all five cases, of which one patient was brought unconscious with decerebrate posturing. Computed Tomography (CT) scan of the brain was done in all patients. The density of the lesion, enhancement with contrast and the presence of hydrocephalus were analyzed. Four patients underwent a detailed postoperative neurological assessment.Results:Three patients underwent the transcallosal-transforaminal approach and total excision of the lesion. One patient underwent revision of the pre-existing ventriculoperitoneal shunt. One patient who was brought in an unconscious state, an external ventricular drain was inserted and she was ventilated. She died 4 hours after the admission. On follow-up, none of the three patients who underwent the transcallosal-transforaminal approach had disconnection syndromes or behavioral disturbances.Conclusion:Colloid cysts in children are rarer and more aggressive than their adult counterparts. It is surgically curable. Early detection and total excision of the lesion is a permanent cure with minimum morbidity, when compared with the natural history of the disease. The limited anterior callosotomy does not result in disconnection syndromes or behavioral disturbance.

A case of monostotic fibrous dysplasia detected in the rib after a sports injury

A forty-six-year-old man with right lateral chest pain was admitted to our clinic. He had a history of a sports injury in the same region that had occurred while wrestling three months previously. Computed tomography of the chest showed a cystic rib lesion of 6 cm in diameter with calcific inclusion. The lesion was removed with excisional biopsy. The result of the pathological examination was reported as fibrous dysplasia. The patient was uneventfully discharged on the third postoperative day. At the 12-month follow-up, patient was fully recovered and no recurrence was detected. Fibrous dysplasia is a common benign congenital lesion that can involve one or more bones. In this article we present a case of monostotic fibrous dysplasia of the rib which developed after a sports injury. This is the first case of its kind reported in the literature.

Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3mutation

BackgroundEpidermal nevi (EN) represent benign congenital skin lesions following the lines of Blaschko. They result from genetic mosaicism, and activating FGFR3 and PIK3CA mutations have been implicated.Case presentationWe report a female patient with a systemic keratinocytic nevus also involving the oral mucosa. Molecular genetic analysis revealed a mosaicism of the FGFR3 hotspot mutation R248C in the EN lesions of the skin and of the oral mucosa. The detection of the R248C mutation in a proportion of blood leukocytes and a slight scoliosis suggest an EN syndrome.ConclusionsOur results show that activating FGFR3 mutations can also affect the oral mucosa and that extracutaneous manifestations of EN syndrome can be subtle. We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded.

Giant and recurrent enterogenous cyst of the frontal lobe: case report

Enterogenous cysts of the central nervous system, also known as endodermic or neuroepithelial cysts are benign congenital lesions. The 2007 AFIP Atlas of Tumor Pathology defines them as “cysts lined by columnar epithelium of presumed endodermal derivation” [7]. They arise from misplaced epithelium of the nasopharynx, respiratory tree or intestinal tract and are characterized by their simple columnar, ciliated or goblet cell epithelium. Enterogenous cysts are extremely rare, as they represent only 0.01% of all tumors of the central nervous system [21]. Only about 100 cases have been described in the literature worldwide [28]. The exact incidence is not known. These lesions have been found in all age groups, from birth to the eighth decade of life [6], although they are most commonly diagnosed in children and young adults after years of slow growth [26]. These cysts are mainly located in the spinal cord. They are particularly common in the lower cervical and upper thoracic segments, and they tend to occupy a location anterior to the spinal cord [22]. The intracranial location is very rare. Intracranial enterogenous cysts are mainly found along the midline of the posterior cranial fossa, anterior to the brainstem, or in the fourth ventricle [5]. Supratentorial cysts are extraordinarily rare, with only 20 cases described so far [10, 14, 23]. A comprehensive review of the literature has yielded only three cases of enterogenous cysts located in the frontal lobe [3, 12, 14]. We present the case of a giant enterogenous cyst of the frontal lobe that reappeared 11 years after its first resection and which, 4 years after a second resection, remains asymptomatic and without radiological signs of the lesion.

Prenatal ultrasound and histological diagnosis of fetal nasal glioma (heterotopic central nervous system tissue): report of a new case and review of the literature

Nasal glioma is a rare, benign congenital midline facial lesion. Prenatal ultrasound diagnosis performed at 2nd trimester of pregnancy revealed a right-sided mass at the level of the fetal face extending from the right internal canthus to the nasal bridge. Differential diagnosis of facial mass in the fetus represents a critical issue because is essential in guiding the prenatal counselling of the couple and in guiding the prenatal and/or postnatal management. Alternative diagnoses such as dacryocystocele, dermoid cyst, retinoblastoma or teratoma, hemangioma, and encephalocele that can not completely be excluded prenatally are discussed. Embryology, pathology, prenatal ultrasound diagnostic clusters of the lesion as well as MR imaging findings are discussed together with review of the literature.

Giant Intradiploic Epidermoid Cyst of Occipital Bone

Intradiploic epidermoid cysts are congenital benign lesions. They commonly occur intracranially. Intradiploic epidermoid cyst of the calvarium is very rare and few cases have been reported to date. We describe a giant intradiploic epidermoid cyst of the occipital bone with CT and MRI characteristics including DW imaging and ADC values.

Cystic dysplasia of the rete testis: Case report

Cystic dysplasia of the rete testis is a rare cause of paediatric scrotal mass often associated with other genitourinary tract anomalies. This benign congenital lesion is the result of a developmental disorder of the union of the Wolffian duct and the seminiferous tubules, and represents a diagnostically challenging condition. Cystic dysplasia of the rete testis should be considered in the differential diagnosis of paediatric scrotal masses. Treatment should be individualized for each case.

Invited commentary

In this article, the authors describe the successful management of 16 patients with relatively sudden enlargement of a venous malformation (VM) due to acute hemorrhage. This represents a small subset of patients with VMs since the majority of VMs do not develop intra-lesion hemorrhage. The authors report good results using a combination of ethanol and bleomycin as the sclerosing agent. While the use of the powerful sclerosing agent absolute ethanol is quite well accepted for treating more aggressive arteriovenous malformations, its use in VM is more limited. This is because of serious potential complications reported with its use, including acute complications of nerve palsy or even cardiopulmonary arrest.1Lee B.B. Kim D.I. Huh S. Kim H.H. Choo I.W. Byun H.S. et al.New experiences with absolute ethanol sclerotherapy in the management of a complex form of congenital venous malformation.J Vasc Surg. 2001; 33: 764-772Abstract Full Text Full Text PDF PubMed Scopus (158) Google Scholar, 2Lee B.B. Do Y.S. Byun H.S. Choo I.W. Kim D.I. Huh S.H. Advanced management of venous malformation with ethanol sclerotherapy: mid-term results.J Vasc Surg. 2003; 37: 533-538Abstract Full Text Full Text PDF PubMed Scopus (234) Google Scholar Therefore, many have begun to consider the use of less dangerous sclerosing agents, such as detergent-based foam, especially for less aggressive VMs, including those with transdermal extension in which there is a higher risk for complications from ethanol injection. Although foam sclerotherapy is likely less effective than ethanol, the complication rate is lower, and if VMs recur, or are only partially treated initially, they can be re-treated with foam sclerotherapy with fewer overall complications. The authors attempted to reduce the risk involved with ethanol injection of the VM by mixing it with bleomycin. However, it is difficult to judge the contribution of bleomycin to the overall treatment outcome since the ethanol was given first to block the draining veins; regardless of its amount, there is substantial risk of the vascular spasm induced by the ethanol before bleomycin begins to work, reducing its effective contact with the endothelial cells. Bleomycin was used extensively to various lymphatic malformations (LMs) with excellent result for the macrocystic lesions in particular.3Mathur N.N. Rana I. Bothra R. Dhawan R. Kathuria G. Pradhan T. Bleomycin sclerotherapy in congenital lymphatic and vascular malformations of head and neck.Int J Pediatr Otorhinolaryngol. 2005; 69: 75-80Abstract Full Text Full Text PDF PubMed Scopus (119) Google Scholar, 4Orford J. Barker A. Thonell S. King P. Murphy J. Bleomycin therapy for cystic hygroma.J Pediatr Surg. 1995; 30: 1282-1287Abstract Full Text PDF PubMed Scopus (149) Google Scholar It still remains a major option when OK-432 (Chugai Pharmaceutical, Tokyo, Japan), also known as picibanil, which is made with attenuated streptococcal exotoxin, is not available for the LM.5Ogita S. Tsuto T. Deguchi E. Tokiwa K. Nagahima M. Iwai N. OK-432 therapy for unresectable lymphangiomas in children.J Ped Surg. 1991; 26: 263-270Abstract Full Text PDF PubMed Scopus (141) Google Scholar, 6Lee B.B. Kim Y.W. Seo J.M. Hwang J.H. Do Y.S. Kim D.I. et al.Current concepts in lymphatic malformation (LM).J Vasc Endovasc Surg. 2005; 39: 67-81Crossref Scopus (90) Google Scholar However, we have found bleomycin is generally less effective when the LM is mixed with the VM. Furthermore, the potential concern for pulmonary fibrosis as a long-term complication of bleomycin remains to be answered especially when it is injected to the VM/venous system. This potential long-term concern has led us not to use bleomycin for VM treatment. In summary, while the authors have reported good results without acute side effects using a combination of ethanol and bleomycin for treating acute hemorrhage within VMs, I believe that foam sclerotherapy should be the sclerosing agent used in these cases, in order to reduce potential complications, accepting a higher recurrence rate with the knowledge that the VM can be retreated.7Lee B.B. Bergan J. Foam sclerotherapy: a textbook.in: Bergan J. Cheng V.L. Chapter 12. Transition from alcohol to foam sclerotherapy for localized venous malformation with high risk. The Royal Society of Medicine Press Ltd, London, UK2008: 9129-9139Google Scholar, 8Yamaki T. Nozaki M. Fujiwara O. Yoshida E. Duplex-guided foam sclerotherapy for the treatment of the symptomatic venous malformations of the face.Dermatol Surg. 2002; 28: 619-622Crossref PubMed Scopus (55) Google Scholar Patients with intralesional hemorrhage in venous malformations: Diagnosis and embolosclerotherapyJournal of Vascular SurgeryVol. 49Issue 2PreviewVenous malformations (VMs) are common congenital benign lesions characterized by slow progression. However, intralesional hemorrhage can result in sudden enlargement of the lesions, which, though uncommon clinically, brings difficulties in diagnosis and treatment. The purpose of this study is to explore the clinical features and diagnosis modality of intralesional hemorrhage in VMs and present our experience with embolosclerotherapy. Full-Text PDF Open Archive

Patients with intralesional hemorrhage in venous malformations: Diagnosis and embolosclerotherapy

Venous malformations (VMs) are common congenital benign lesions characterized by slow progression. However, intralesional hemorrhage can result in sudden enlargement of the lesions, which, though uncommon clinically, brings difficulties in diagnosis and treatment. The purpose of this study is to explore the clinical features and diagnosis modality of intralesional hemorrhage in VMs and present our experience with embolosclerotherapy. A series of 16 patients were recruited from May 2003 to February 2007, of which fifteen were males and one was female, aged from five months to 40 years (mean, 11.4 years). The anatomic sites affected included cheek (n = 6), upper lid (n = 3), neck (n = 3), parotid region (n = 2), temple (n = 1), and upper limb (n = 1). The period of enlargement varied from one day to 25 days (mean, 8.4 days). Diagnostic needle aspiration was performed to analyze the internal contents of the masses by macroscopic observation. Magnetic resonance imaging (MRI) was applied to determine the size, location, and extent of the lesions. Two patients received percutaneous venography. Routine blood testing was carried out in all cases. A combination of absolute alcohol and Bleomycin A5 embolosclerotherapy was administered to the patients. The procedure was repeated after 6 to 8 weeks. Outcomes were assessed by MRI measurement and pre and post treatment color photos. All the patients were diagnosed with hemorrhage in VMs. The volume of the localized lesions varied from 3 cm x 2 cm x 1 cm to 8 cm x 5 cm x 3 cm. Fourteen patients received embolosclerotherapy in one (n = 10) or two (n = 4) sessions. Two cases were not treated and the lesions regressed spontaneously with detectable residual lesions. After a mean follow-up of 25 months (range, 3 to 40 months), treatment was considered effective in 12 patients. The complications were minimal including temporary swelling in 14 treated patients and mild fever in two patients. Intralesional hemorrhage in VMs should be distinguished from other lesions in the head and neck region. Diagnostic puncture and MRI are essential for accurate diagnosis. Percutaneous embolosclerotherapy using a combination of absolute ethanol and Bleomycin A5 is a safe and effective treatment of choice.

Acne Arising in an Epidermal Nevus

Epidermal nevi are benign congenital lesions that follow Blaschko lines. Epidermal nevi can demonstrate a variety of histologic patterns and contain hamartomatous hyperplasia of any epidermal or adnexal structure. We present the first reported instance of acne arising strictly within a preexisting keratinocytic epidermal nevus during puberty, which is a demonstration of genetic mosaicism in pilosebaceous units.

Coexisting intracranial meningeal melanocytoma, dermoid tumor, and Dandy–Walker cyst in a patient with neurocutaneous melanosis

Neurocutaneous melanosis (NCM) associated with Dandy-Walker malformation is a very rare congenital neurodysplasia with the same origin. Primary intracranial melanocytic and dermoid tumors are also benign congenital lesions that usually arise from the leptomeninges and are formed by the inclusion of cutaneous ectoderm at the time of neural tube closure. The authors describe a patient with coexisting intracranial meningeal melanocytoma, NCM with Dandy-Walker malformation, and intraventricular dermoid tumor.

Ciliated Median Raphe Cyst of Perineum Presenting as Perianal Polyp: A Case Report with Immunohistochemical Study, Review of Literature, and Pathogenesis

Median raphe cyst is a very rare, benign congenital lesion occurring mainly on the ventral aspect of the penis, but can develop anywhere in the midline between the external urethral meatus and anus. We report a case of median raphe cyst in the perineum presenting as a perianal polyp in a 65-year-old, English white male with exceptionally rare ciliated epithelium. According to our knowledge, this is the third such case of ciliated median raphe cyst in the English literature. This case, also the first case of ciliated median raphe cyst in the perineum location, focuses on pathogenesis of median raphe cyst.

Kystes biliaires

Biliary cysts are frequent hepatic manifestations. They are benign, single or multiple congenital lesions, with a female predominance. In more than half the cases, they remain asymptomatic; fortuitously detected during abdominal investigations, they are observable either by imaging (ultrasonography, CT scanning, MRI), either by surgery (laparoscopy or laparotomy). However, they may evolve and induce various complications: congestive attacks, intracystic hemorrhage, ruptures, infection, compression of the surrounding intra- or extrahepatic tissues. Treatment is indicated only in case of complication or pain. Although laparoscopic resection of the dome is the most frequently used treatment for about twelve years, the recurrence rate remains high. Besides, other therapeutic means exist, such as surgery (cystectomy, hepatic resection, hepatic transplantation) or non-surgical treatments (percutaneous radiological drainage, intracystic injection of sclerotic substances). All these methods have to be carefully discussed before selection, owing to various associated advantages, disadvantages and results.

Lymphatic malformation of the parapharyngeal space

Lymphatic malformations are rare benign congenital lesions. A 28-month-old girl presented with a parapharyngeal lymphatic malformation. A cystic lesion had been diagnosed at 18 weeks’ gestation by ultrasonography and she had been followed up conservatively until her referral to our department. We used a transcervical approach to excise the parapharyngeal lesion and 1 year later, there was no sign of recurrence.

An extradural dermoid tumour in the posterior fossa with atypical imaging findings

Intracranial dermoid tumours (DTs) consisting of 0.5% of all intracranial tumours are rare benign congenital lesions, which contain dermal elements and sebaceous material within their capsules. Posterior fossa dermoids are more rare, and their imaging characteristic varies according to amount of tissue content. Their unusual location and imaging features may cause difficulties for difference from other posterior fossa lesions. We reported a 3-year-old boy case with posterior fossa dermoid, having atypical magnetic resonance imaging and computed tomography (CT) features and contrast enhancement similar to glial tumours.

Cystic dysplasia of the testis associated with ipsilateral renal agenesis and contralateral crossed ectopia

Cystic dysplasia is a benign congenital lesion of the rete testis often associated with ipsilateral wolffian duct and ureteral abnormalities. We present a case of cystic dysplasia and associated anomalies in a 12-year-old boy. The workup revealed right testicular cystic dysplasia, ipsilateral renal agenesis, contralateral crossed renal ectopia, and vesicoureteral reflux. We performed right testicular-preserving cyst enucleation and ureteroneocystostomy. No testicular atrophy or new cyst formation was evident at 1 year of follow-up. This is the first reported case of cystic dysplasia associated with ipsilateral renal agenesis and contralateral crossed renal ectopia.

Superficial siderosis of the central nervous system secondary to a thalamic hamartoma

A patient with radiologically evident superficial siderosis of the central nervous system secondary to a thalamic hamartoma is reported. Cerebral hamartomas are rare, benign congenital lesions which when vascular can cause repeated subarachnoid haemorrhages, which results in deposition of iron (haemosiderin) in the leptomeninges and in the subpial layers of the brain and spinal cord. Progressive sensorineural deafness and cerebellar ataxia, which are typical clinical manifestations of superficial siderosis, may then appear. The importance of prompt diagnosis and treatment is highlighted.

CT and MR Findings of Presacral Epidermoid Cyst: A Case Report

Epidermoid cyst of the presacral space is a rare benign congenital lesion which is lined with keratinized squamous epithelium. We describe the computed tomography(CT) and magnetic resonance (MR) imaging findings in a case of presacral epidermoid cyst in a 35-year-old woman. The lesion appeared on CT as a well defined cystic mass with a thin wall. MR imaging showed heterogeneously low signal intensity on T1-weighted images and heterogeneously high signal intensity on T2-weighted images.

Cystic Dysplasia of the Rete Testis: A Benign Congenital Lesion Associated With Ipsilateral Urological Anomalies

Purpose Cystic dysplasia of the rete testis is a benign congenital lesion that can mimic testicular cancer. We report 6 cases, review the literature, discuss the embryological etiology and make management recommendations. Materials and Methods The records and pathology reports of 6 boys presenting with cystic dysplasia of the rete testis at 5 institutions were reviewed, as was the relevant literature. Results Of the 6 cases 5 presented as scrotal masses in previously healthy boys and 1 as an abdominal mass in a newborn with multiple congenital anomalies. One patient had been followed from birth for a multicystic dysplastic kidney and 4 were found to have an ipsilateral absent kidney during evaluation. Development of the contralateral side was normal in most cases. Conclusions Cystic dysplasia of the rete testis is an unusual, benign congenital lesion that can mimic testicular cancer in presentation. The presence of ipsilateral renal anomalies, particularly renal agenesis, can suggest cystic dysplasia of the rete testis in the differential diagnosis preoperatively. Even if cystic dysplasia of the rete testis is suspected, we recommend inguinal exploration and early control of the spermatic cord in the event that neoplasia is identified. If possible, the goal of preserving as much normal testicular parenchyma as possible is desirable. Long-term followup for possible recurrence is recommended, particularly after local excision.