THE "-OMAS" and "-OPIAS": Targeted and Philosophical Considerations Regarding Hamartomas, Choristomas, Teratomas, Ectopias, and Heterotopias in Pediatric Otorhinolaryngologic Pathology.

The spectrum of "developmental" lesions that occur in the head and neck predominantly congenital in origin and arising at birth and/or discovered in childhood is broad and fascinating. These have been grouped into categories such as "ectopias", "heterotopias", "hamartomas", and "choristomas". On a philosophical and consequently systematic level, these lesions, mostly benign tumors seem to lack a true understanding of the pathogenetic foundation on which to base a more unified taxonomic designation. In this review, we will consider some of these select tumors as they represent syndromic associations (nasal chondromesenchymal hamartoma and DICER1 syndrome), the lingual choristoma from the perspective of its nomenclature and classification, lesions with ectopic meningothelial elements, and teratomas and the enigmatic "hairy polyp" in reference to a broader discussion of pathogenesis and pluripotent cells in the head and neck. A consistent thread will be how these lesions are designated with some final thoughts on future directions regarding the investigation of their pathogenesis and taxonomic nomenclature.

Congenital cervical choristoma of the neck mimicking cystic lymphangioma.

INTRODUCTION: Choristoma is a mass presenting normal histology, but in an abnormal location. Cystic choristoma is rarely reported in the head and neck region. Neonatal cystic masses in the neck suggest usually correspond to a diagnosis of cystic lymphangioma. CASE REPORT: We report a case of a congenital cystic choristoma of the neck clinically and radiologically mimicking cystic lymphangioma. DISCUSSION: Congenital cystic choristoma is an extremely rare lesion, essentially described in neonates, composed of various types of tissues. The diagnosis of congenital cystic choristoma may be suggested on imaging and must be confirmed by histopathological examination. Treatment consists of complete surgical resection.

Ectopic immature renal tissue presenting as a pedunculated sacral mass in a neonate.

Ectopic immature renal tissue (EIRT) has been reported in a variety of tissues of mesodermal origin, including the dermis of the skin. We report a case of a newborn with a congenital lumbosacral mass with pathologic findings consistent with EIRT. This report highlights the clinical and pathologic considerations of EIRT, including associations with spinal dysraphism, teratoma, and Wilm's tumor.

Liver heterotopia associated with congenital diaphragmatic hernia: Two case reports and a review of the literature.

RATIONALE: Liver heterotopia associated with congenital diaphragmatic hernia (CDH) is a rare condition; to the best of our knowledge, only 17 cases have been reported to date. The histogenesis and clinicopathological features are largely unknown. We herein report 2 cases of liver heterotopia associated with CDH along with 17 cases described in the literature to shed light on their clinicopathological characteristics. PATIENT CONCERNS: Case 1 was a vaginally delivered male newborn who presented with respiratory distress immediately after birth. Case 2 was a female fetus who was found to have left-sided CDH during gestation. DIAGNOSIS: In case 1, a chest X-ray revealed left-sided CDH. In case 2, magnetic resonance imaging performed at 33 weeks of gestation revealed left-sided CDH. INTERVENTIONS: Case 1 underwent diaphragmatic patch repair surgery 3 days after birth. Histopathological examination following surgery in case 1 revealed the presence of ectopic liver tissue in the hernia sac. Case 2 was delivered by Cesarean section, and diaphragmatic patch surgery was performed 3 days after birth. During surgery, an isolated nodule was identified on the peritoneal side of the border of the defective foramen of the diaphragm. Histopathological examination following surgery in case 2 confirmed the presence of an epidermal cyst in the hernia sac. In addition, the isolated nodule was histopathologically found to be ectopic liver tissue. OUTCOMES: In Case 1, CDH recurred at 6 months after surgery, and a second patch repair surgery was performed. The surgically removed hernia sac was found to contain microscopic ectopic liver tissue on histopathology. Case 1 recovered well after surgery, and there was no critical change during the 10-month postoperative period. Case 2 recovered well after surgery, and there was no critical change during the 20-month postoperative period. LESSONS: There were no secondary pathological conditions associated with the presence of ectopic liver in CDH, such as torsion, infarction, rupture, intra-abdominal bleeding, or tumorization. Our observations suggest that liver heterotopia is a rare but asymptomatic condition in patients with CDH.

Phakomatous Choristoma of the Orbit With Involvement of the Inferior Oblique Muscle.

The authors report a case of phakomatous choristoma presenting as an orbital tumor with involvement of the inferior oblique muscle. This is the only known case of this rare tumor directly invading and incorporating the inferior oblique. This tumor should be included in the differential of eyelid tumors and orbital tumors in infants. Finally, the authors review the histopathological and embryological characteristics of this lenticular tumor.

Splenogonadal fusion - a rare cause of scrotal swelling: a case report.

BACKGROUND: Splenogonadal fusion is a rare and benign condition. Diagnosis is challenging for clinicians. Despite its indolence, diagnosis is often confirmed after orchidectomy. Surgery is mandatory, particularly to rule out the extremely rare association with malignancy. CASE PRESENTATION: We report a case of splenogonadal fusion in a 38-year-old North African man presenting a palpable scrotal mass. We describe clinical aspects, pathogenic hypothesis, radiological features, as well as surgical management principles. CONCLUSIONS: Splenogonadal fusion is rarely suspected and diagnosed preoperatively. A diagnosis is made once an ectopic testicular mass is associated with cryptorchidism and suggestive radiological signs. A better knowledge of the clinical and radiological features of splenogonadal fusion provides an opportunity for conservative surgery.

Cervical Chondrocutaneous Branchial Remnants.

Cervical chondrocutaneous branchial remnants are rare congenital choristomas. These lesions contain a cartilage core surrounded by skin with adnexal structures and subcutaneous fat. Correspondingly, on ultrasound there is a tubular hypoechoic core surrounded by hyperechoic, while on CT there is central intermediate attenuation surrounded by fat attenuation tissues. These features are exemplified in this sine qua non radiology-pathology correlation article. Management includes complete surgical resection and evaluating for potential associated anomalies, such as other branchial apparatus anomalies, as well as cardiac anomalies.

Unusual Case of Combined Gliomeningeal Heterotopia on the Nose of an Infant.

Nasal glial heterotopia ("nasal glioma") and cutaneous heterotopic meningeal nodules ("primary cutaneous meningioma") are rare congenital lesions characterized by the presence of heterotopic mature cerebral tissues. Nasal glial heterotopia occurs predominantly in the nasal area and typically does not contain meningothelial elements, whereas heterotopic meningeal nodules occur predominantly on the scalp and do not contain glial elements. In this article, we report an unusual case of cutaneous heterotopia on the nose of an infant composed of both glial and meningothelial elements. The glial component was characterized by irregular islands of predominantly astrocytic cells, on a fibrillary background. The meningothelial component was characterized by bland ovoid cells with focal intranuclear inclusions forming whorled arrangements, with associated psammomatous calcification. To our knowledge, this is the first time such a lesion has been documented. It has also provided us with an opportunity to review the literature regarding heterotopic deposits of both glial and meningothelial tissues.

Nasal glial heterotopia or congenital hemangioma? A case report.

Nasal glial heterotopia (NGH) is a rare benign tumor of the median line. We describe the case of a child presenting a lateral nasal mass. The characteristics of the prenatal ultrasound and the postnatal clinical examination argued in favor of a congenital hemangioma (CH). The MRI performed at 6 weeks of life suggested glial heterotopia. This diagnosis was confirmed by the pathological analysis. Congenital hemangiomas and nasal glial heterotopies have similar clinical presentations. Prenatal ultrasound diagnosis between NGH and CH is difficult. Fetal MRI is not yet highly specific for these two lesions, but it can eliminate an intracerebral connection in cases of NGH. Postnatal exams are more specific. Flow on the Doppler exam is rapid for CH and slow for NGH. On MRI, these two lesions appear as a hypersignal on T2-weighted sequences, but less intense for NGH than for CH. Distinguishing between NGH and CH can be difficult. This does not have a direct incidence on treatment because it is surgical in both cases.

The Utility of Magnetic Resonance Imaging in the Evaluation of Accessory Scrotum in the Newborn.

Accessory scrotum, a rare form of congenital scrotal anomaly that is often associated with other genitourinary and anorectal anomalies, is characterized by ectopic scrotal tissue in the presence of a normal, orthotopic scrotum. Here, we present a case of accessory scrotum in a newborn male. We describe our experience with the utilization of preoperative pelvic magnetic resonance imaging to characterize the complex relationship between the accessory scrotum and ano-sphincteric complex, as well as identify associated genitourinary abnormalities. We also provide a brief literature review.

Benign Malformative Lesion of the Skull: Hamartoma with Ectopic Elements or Choristoma?

Hamartoma and choristoma are terms that describe non-neoplastic, mass-forming malformative lesions. Although each lesion has a different composition, they have been used interchangeably in many reports, especially for malformative lesions containing ectopic or heterologous elements. We report a three month-old girl who was brought to the clinic with a mass lesion at the posterior fontanel, composed of predominantly osteo-cartilaginous tissue admixed with skeletal muscle, peripheral nerve tissue, and ganglion. The mass was resected completely. The composition of this benign lesion with ectopic elements was consistent with an osteo-cartilaginous hamartoma. We discuss the biological and clinical aspects such malformative lesions within the skull to highlight the inconsistencies of the nomenclature used in the literature.

The ectopic accessory parotid system with congenital cheek fistula: An overview and current update.

OBJECTIVE: This review attempts to provide a comprehensive, updated overview of the ectopic accessory parotid system (EAPS) from clinical and developmental perspectives and investigates its eligibility to be included in the oculo-auriculo-vertebral spectrum (OAVS). REVIEW METHODS: Results of the keyword-based search in the PubMed/MEDLINE, Google Scholar, LILACS, and Cochrane Library were subjected to the given inclusion and exclusion criteria that corroborated with the definition of EAPS. Eleven records were shortlisted, their full texts studied and references cross-checked. Finally, 10 articles collectively describing 16 patients were considered for review. RESULTS: The average age of presentation was 8.33 years, with 44% of the patients aged below 5 years. Boys were affected 1.67 times more. The cheek fistula was always unilateral, with marginal left predilection. About 94% of the patients were of East Asian descent, chiefly from China and India. Thirteen children had preauricular appendages, mostly ipsilateral, with occasional ipsilateral mandibular hypoplasia (25%). The ectopic parotid was anterolateral to the masseter, lateral to buccinator, and inferior to the Stensen duct. Complete surgical removal of the EAPS (intraoral approach) or transposing the fistula into the oral cavity formed the mainstay of treatment. CONCLUSION: The EAPS is a rare craniofacial anomaly presenting with a saliva-draining cheek fistula, associated with ipsilateral preauricular appendages (microtia) and occasional mandibular hypoplasia. Speculative developmental theories suggest dysmorphogenesis of the first two pharyngeal arches, clinically and embryologically relating it with OAVS. This review summarizes the clinical aspects, and establishes isolated EAPS as a mild but discrete phenotype of OAVS irrespective of the presence of other congenital stigmata. Laryngoscope, 127:1351-1360, 2017.

Glial heterotopia of the orbit: a rare cause of proptosis.

BACKGROUND: Glial heterotopia is defined as presence of normal glial tissue in an unusual location without connection with the brain. It is a very rare clinical entity occuring mostly in the head and neck region which is generally present at birth. Orbital location is very rare. CASE REPORT: We report a case of a 4-month-old girl presenting congenital proptosis with progressive increase. CT scan revealed an intraorbital mass without bony defect. The patient was operated, and resection was subtotal. Histologically, the tumor was composed of glial tissue with plexus choroid and pathologist concluded glial heterotopia. The child is under constant medical supervision because recurrences can be observed after incomplete resection; she had no new clinical signs at 18 months follow-up.

Space occupying lesions in the presence of congenital diaphragmatic hernia.

INTRODUCTION: Previous reports describe lung malformations and other chest lesions in association with congenital diaphragmatic hernia (CDH), yet little is known how these lesions affect outcomes. We sought to evaluate the incidence and outcomes of patients diagnosed with chest lesions in association with CDH. METHODS: The charts of all infants treated for CDH in a single tertiary center from January 2004 to January 2015 were reviewed. The outcomes of those with space occupying lesions (SOLs) in association with CDH were compared to those with isolated CDH. Statistical analysis was performed using Student's t-test and Mann-Whitney U test for continuous variables and Fisher's exact for categorical variables. RESULTS: Of the 214 infants treated, 20 had an associated SOL (4 had>1 lesion). SOLs were confirmed by pathological examination and included: bronchopulmonary sequestration (n=10; 4.7%), ectopic liver (n=9; 4.2%), foregut duplication cyst (n=2; 1%), and other lesions (n=3; 1.4%). No statistical difference was noted in the long-term outcomes of patients with SOL in comparison to those with isolated CDH. CONCLUSION: SOLs are not uncommon in neonates with CDH. Despite theoretical concerns, there is no evidence that SOLs are associated with worse outcomes, a finding which is helpful during prenatal counseling of families.

Congenital nasal neuroglial heterotopia and encephaloceles: An update on current evaluation and management.

OBJECTIVES/HYPOTHESIS: To describe our experience and current management approach for congenital nasal neuroglial heterotopia (NGH) and encephaloceles. STUDY DESIGN: Retrospective chart review at a tertiary pediatric hospital from 1970 to 2013. METHODS: Thirty patients met inclusion criteria: 21 NGH and nine encephaloceles. Data including demographics, pathology, imaging modality, surgical approach, resection extent, outcomes, and complications were analyzed. RESULTS: Fourteen NGH patients (67%) presented with an internal nasal mass and nasal obstruction. Three patients (14%) presented with an external nasal mass and four (19%) had a mixed lesion. Median age at surgery was 0.51 years (interquartile range 1.32 years). Thirteen (62%) had an intranasal endoscopic approach. Median operative time was 1.6 hours (interquartile range 1.2 hours), and there were no major complications. Nine patients with encephalocele were identified: six (67%) presented with transethmoidal encephaloceles, two (22%) presented with nasoethmoidal encephaloceles, and one (11%) presented with a nasofrontal lesion. The median age at surgery was 1.25 years (interquartile range 1.4 years). All patients required a craniotomy for intracranial extension. Median operative time was 5 hours (interquartile range 1.9 hours), and eight patients (88%) had a total resection. Length of stay ranged from 3 to 14 days. CONCLUSION: Nasal neuroglial heterotopia and encephaloceles are very rare lesions that require multidisciplinary evaluation and management. At our institution, there has been a shift to magnetic resonance imaging alone for the evaluation of NGH to avoid radiation exposure. Endoscopic extracranial resection is feasible for most intranasal and mixed NGH without an increase in operative time, residual disease, or complications. LEVEL OF EVIDENCE: 4. Laryngoscope, 126:2161-2167, 2016.

A congenital foregut malformation with a laryngeal bronchus.

We present the case of a 2-month-old boy who required intubation at birth for stridor, at which point a supraglottic cyst was noted. With recurrence of the cyst, a subsequent computed tomographic scan and magnetic resonance imaging demonstrated a mass encroaching on the larynx, descending into the mediastinum, and encasing the major vessels. A median sternotomy and transcervical incision enabled excision of a well-defined mass with a laryngeal attachment. This attachment was consistent with a bronchus on histopathologic investigation. To our knowledge, this is the first reported case of ectopic lung tissue arising from the larynx and descending into the mediastinum.

Phakomatous choristoma in a 10-week-old boy: a case report and review of the literature.

Phakomatous choristoma (PC) is a rare benign congenital lesion of lenticular anlage. It presents in young patients as a firm subcutaneous mass in the medial eyelid or orbit and may raise clinical concern for neoplasms such as rhabdomyosarcoma, but its histopathology is distinct, consisting of dense collagenous stroma and eosinophilic cuboidal epithelial cells forming nests, tubules, cords, or pseudoglands. We present a case of PC in a 10-week-old boy to illustrate the unique clinical, histopathologic, and immunophenotypic features of this condition and to reaffirm that familiarity with this rare entity aids accurate diagnosis.

Cheek fistula from the ectopic salivary gland: a variant of the oculo-auriculo-vertebral spectrum.

OBJECTIVES/HYPOTHESIS: This study aimed to investigate the diagnosis and management of a distinct developmental deformity syndrome characterized by congenital cheek fistula, ectopic accessory parotid gland, and preauricular appendage. STUDY DESIGN: Retrospective study. METHODS: We analyzed the medical records, radiologic and histopathologic findings, and follow-up data for seven patients (four males) with a congenital cheek salivary fistula. Computed tomography, fistulography, and sialography had been performed for diagnosis. Surgical treatment effect was evaluated. RESULTS: The mean age of the patients was 8.1 years (range, 2-16 years). The distinctive clinical feature was a congenital skin orifice lateral to the commissure with saliva discharge during eating. The cheek fistulae were accompanied by ipsilateral preauricular appendages in all seven patients. The skin orifice connected to an ectopic gland anterior to the masseter and inferior to Stensen's duct. Parotid sialography demonstrated an intact Stensen's duct in all cases. Hypoplasia of the ipsilateral mandible could be observed in five cases. Excision of the ectopic gland, skin orifice, and fistula was performed in five cases resulting in optimal treatment outcomes with no recurrent or adverse events. CONCLUSIONS: A congenital saliva-discharging fistula with an ectopic accessory parotid gland, ipsilateral preauricular appendage, and mandibular hypoplasia constitutes a rare developmental syndrome. Surgical excision can effectively treat congenital cheek salivary fistula. LEVEL OF EVIDENCE: 4.