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.

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.

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.

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.

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.

Does nasal neuroglial heterotopia represent a risk for the newborn during delivery?

Neuroglial heterotopia is a rare developmental abnormality. Most frequently the diagnosis is established at birth or in early childhood by a typical clinical presentation. Neuroglial heterotopia can be intracranial or extracranial. A typical example of extracranial heterotopia is nasal glioma, which can be isolated or can communicate directly with the intracranium. The most sensitive investigation for the confirmation of its site is magnetic resonance imaging. Histological investigation is crucial in establishing the diagnosis. The authors present the case of postnatally assessed nasal glioma. They emphasize the importance of detailed prenatal investigation as most important in preventing birth trauma and consequent complications.

Teeth erupted from the buccal mucosa: simple odontogenic choristoma or accessory teeth?

The eruption of developed teeth from the buccal mucosa is a rare phenomenon in the head and neck region. Such phenomena are possibly choristomas, tumorlike masses of histologically normal tissue occurring in an abnormal position. However, the accurate classification of this abnormality remains debatable. This report describes a case of a congenital, maldevelopmental, and noncystic lesion in a 4-year-old girl without other anomalies. To the authors' knowledge, this is the first case of multiple supernumerary teeth forming in the buccal and zygomatic regions.

Congenital drainage at the base of the neck.

Heterotopic salivary gland tissue consists of otherwise normal salivary tissue, but occurs at a site in which it is normally not present (outside of the major, minor, and accessory salivary glands), with absence of clinical and histological features of branchial cleft anomalies. We herein present a 7-year-old boy with drainage from a small, congenital cystic lesion located at the base of the neck, which was histologically confirmed as salivary gland tissue.

Crossed fused renal ectopia presenting as recurrent lower abdominal pain and urinary tract infection.

BACKGROUND: Crossed fused renal ectopia is a relatively rare condition which may remain undiagnosed for a long time. Renal function is usually preserved. It usually involves the left kidney. It is usually associated with mal-rotation, and may be a cause of urinary tract infection, hydronephrosis and renal calculi. MATERIAL AND METHOD: We report a case of a 15-year old boy who was referred to our clinic with complaints of abdominal pain, and an ultrasound report of "absent right kidney". RESULTS: Urine examination indicated a partially treated infection, but the tests of kidney functions were normal. Intravenous urography confirmed crossed fused renal ectopia, and a flush aortogram showed two anomalous right renal arteries arising from the left side of aorta. CONCLUSION: An "absent" kidney in its normal location should prompt further investigations. Recurrent chronic lower abdominal pain and urinary tract infection in a young person may be due to congenital renal abnormality. Evaluation of persistent urinary abnormalities in a child should include screening for congenital abnormalities.

Complex choristoma of the lacrimal caruncle: a case report of an unusual congenital tumor with clinical and histopathological classification.

Rare congenital tumors can be localized in the peribulbar area. Here we report an unusual case presented in a 3-year-old child with a history of a congenital tumor in the lacrimal caruncle of the right eye, associated with epiphora and constant discomfort. A surgical resection was performed, and the final histopathological diagnosis was lacrimal caruncle complex choristoma. Choristomas are growths of apparently normal tissue in an abnormal location, which can be situated anywhere in the body, including ocular and peribulbar structures. These almost unknown congenital tumors constitute the most common conjunctival tumors in children and can be interpreted clinically as different lesions, which are only differentiated through precise histopathological analysis.

[Tongue cyst in children: foregut duplication, a possible diagnosis]. / Kyste lingual de l'enfant : savoir évoquer la duplication digestive.

INTRODUCTION: Foregut duplication is a heterotopy of the digestive mucosa. The tongue localization is relatively uncommon, it presents as a cystic lesion. We report a series of five patients presenting with cysts of the tongue. PATIENTS AND METHODS: This retrospective study was made on cases of foregut duplication of the lingual area, diagnosed between 1977 and 2008. We documented the patient's age, gender, symptoms, lesion localization, clinical radiological and pathological features, treatment, and outcome. RESULTS: Four boys and one girl were included. Two cysts were diagnosed during antenatal screening, two during early infancy, and one at the age of 12 (after infectious complication). In every case, the diagnosis could be confirmed only after surgical removal. DISCUSSION: Foregut duplication of the tongue is rare and its incidence is probably underestimated. This diagnosis should be suggested in case of congenital intraoral cysts. Treatment is surgical excision, and pathological examination confirms the diagnosis.

The histopathological spectrum of cutaneous meningeal heterotopias: clues and pitfalls.

AIMS: To describe the histopathological features of heterotopic cutaneous meningeal tissue. METHODS AND RESULTS: Nineteen cases were collected between 1993 and 2010. Immunohistochemistry for epithelial membrane antigen (EMA), neuron specific enolase (NSE), S100, glial fibrillary acid protein (GFAP), progesterone receptor (PR), CD31, glucose transporter-1 (Glut-1), podoplanin and NKI-C3 was performed. Lesions were congenital (100%) and presented as aplasia cutis with alopecia (63%) or lumps (37%), on the scalp (18 of 19) and sacral region. Resonance magnetic imaging revealed four underlying anomalies of the neuraxis. Histopathological analysis showed meningeal tissue arranged in four variably associated architectural patterns: fibrous (100%), pseudovascular (100%), cellular (68%) and pseudomyxoid (32%). Other features included collagen bodies (58%), calcifications (26%) and dermal melanocytes (32%). Heterotopic brain tissue or heterotopic ependymal cyst was associated in two cases. Arachnoidal cells expressed EMA and NSE, but not S100 protein, CD31 or GFAP. They expressed podoplanin (93%), especially in pseudovascular areas, NKI-C3 (79%), and less frequently Glut-1 (46%) and PR (30%). CONCLUSIONS: Histopathological features of cutaneous meningeal heterotopias are various and sometimes misleading. Fibrous lesions should not be misdiagnosed as aplasia cutis. Podoplanin-positive pseudovascular spaces represent the main pitfall and should not be diagnosed as lymphangioma. Correct diagnosis is confirmed by EMA and NSE coexpression within the lesion.

Ectopic endometrial tissue in mesonephric duct remnants in bitches.

Common congenital embryonic remnants of the canine female genital tract are Gartner cysts originating from mesonephric duct remnants. They can increase in size and lead to adverse effects in fertility and health. In the present study, three cases of mesonephric remnants in bitches were analysed. The mesonephric remnants featured an inner lining endometrium comprising surface epithelium, glands and stroma. This ectopic endometrium was further characterized by immunohistochemistry (oestrogen and progesterone receptors, proliferation activity, cytokeratin, alpha smooth muscle actin, and vimentin) and lectin histochemistry compared with normal uterine endometrium. Furthermore, hypertrophic cells at the serosal site of the uteri were detected and analysed in the same way compared with normal serosa. The ectopic endometrium of case no. 2 mesonephric remnant was comparable with normal endometrium whereas in nos 1 and 3 uteri the ectopic endometrium was reduced in thickness. In all mesonephric remnants, surface and glandular epithelial cells of the ectopic endometrium gave positive immunoreactions for cytokeratin, oestrogen and progesterone receptors and showed lectin-binding patterns comparable with normal endometrium. Some of the stromal cells of the ectopic endometria were smooth muscle actin and vimentin positive. Mitotic activity of the ectopic endometria was comparable with normal endometria. Hypertrophic epithelial cells of the serosal side showed positive reactions to anti-oestrogen receptor and anti-cytokeratin immunohistochemistry as well as lectin binding patterns and mitotic activity comparable with the normal canine serosa. The present study is the first considerable immunohistochemical characterization of canine mesonephric remnants and discusses the appearance of ectopic endometrium in mesonephric remnants.

Gastric duplication cysts as a rare cause of haematemesis: diagnostic challenges in two children.

Gastric duplication cysts are rare congenital alimentary tract anomalies. We describe the importance of imaging in two children with haematemesis due to gastric duplication cysts. We emphasize the necessity for a high clinical index of suspicion for early diagnosis.

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.

Retroperitoneal pulmonary choristoma in a newborn calf.

A newborn male Romagnola calf, who had died a few hours after birth, was submitted for postmortem examination. Necropsy revealed a 23 cm × 22 cm × 5 cm, pale pink, lobulated, elastic, partially fluctuant mass that protruded from the dorsal retroperitoneal space into the abdominal cavity, extending from the diaphragm to the left kidney. The mass consisted of mature pulmonary tissue and was consistent with a pulmonary choristoma. The gross and microscopic appearance of this rare tumor-like congenital lesion and the possible pathogenesis are discussed.

Macroscopic pancreatic heterotopia on a congenital biliary dilatation.

Pancreatic heterotopia is generally asymptomatic and occurs in gut-related sites. An antenatally detected subhepatic cyst was finally diagnosed to be a congenital biliary cystic dilatation (without a caudal duodenal communication) with macroscopic Heinrich Type 2 pancreatic heterotopia. The embryogenesis and pathology of the malformation are discussed.

A foregut cyst presenting as an umbilical mass in a newborn.

We described for the first time a foregut cyst presenting as an umbilical mass in a female infant. The diagnosis was made microscopically. This case illustrates, based on varied histologic findings, the complexity in classifying such cysts, in view of existing terminology.

[Diagnostic and surgical approach to an hourglass-shaped nasopalatine glioma in an infant]. / Approche diagnostique et chirurgicale d'un gliome naso-palatin "en sablier" chez un nourrisson.

The authors report a case of glioma nasopalatine Multifoil in wallet, location-intra nasal and palatal left. The nasal glioma is a rare congenital malformation presenting as a nasal mass composed of neuroglial tissue heteropias resulting from an abnormality in embryonic development. It is a benign tumor that fits into the nosology of the masses of the midline. This abnormality arises primarily a diagnostic problem because often mistaken for a meningo-encephalocele or a nasal dermoid cyst. Localization nose and palate, an hourglass, is extremely rare if not exceptional; The computed tomography (CT) has enabled the accurate assessment of injury and has guided the choice of surgical technique. The resection was done successfully without recurrence. Histology examination of the surgical specimen confirmed the nature of astrocytic neuroglial tumor. The location of the tumor pedide palate to that of the left nostril is special and especially histological diagnosis of this congenital malformation.