Anesthetic Management of Patients with Congenital Insensitivity to Pain with Anhidrosis: A Retrospective Analysis of 358 Procedures Performed Under General Anesthesia.

BACKGROUND: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder characterized by recurrent episodic fevers, anhidrosis, absent reaction to noxious stimuli, self-mutilating behavior, and mental retardation. The anesthetic management of patients with CIPA is challenging. Autonomic nervous system abnormalities are common, and patients are at increased risk for perioperative complications. METHODS: In this study, we describe our experience with 35 patients with CIPA who underwent 358 procedures requiring general anesthesia between 1990 and 2013. RESULTS: During surgery, 3 patients developed hyperthermia intraoperatively (>37.5°C) without prior fever. There were no cases of intraoperative hyperpyrexia (>40°C). Aspiration was suspected in 2 patients, and in another patient aspiration was prevented by the use of endotracheal tube, early detection of regurgitation, and aggressive suctioning. One patient had cardiac arrest requiring cardiopulmonary resuscitation. Intraoperative bradycardia was observed in 10 cases, and postoperative bradycardia was observed in 11 cases. CONCLUSIONS: Regurgitation, hyperthermia, and aspiration were uncommon, but the incidence of bradycardia was higher than has been reported in previous studies. CIPA remains a challenge for anesthesiologists. Because of the rare nature of this disorder, the risk of various complications is difficult to predict.

Oral Mucoceles in Children--Analysis of 56 New Cases.

BACKGROUND: Mucoceles are common cystic lesions of the oral mucosa. Extravasation mucoceles (EMs) are mainly found in the lower lip of young patients, whereas retention mucoceles (RMs) are usually located in the cheek or palate of older patients. This study was undertaken to more fully characterize the clinicopathologic features of mucoceles in pediatric patients. METHODS: The records of 56 pediatric patients with mucoceles were included in the study. Age, sex, history of trauma, intraoral site, size, and method of treatment were evaluated. Histopathologically the lesions were classified as being EMs or RMs. RESULTS: The age range was 1.5 to 16 years (mean age 11.2 yrs). Of the 56 patients, 24 (43%) were males and 32 (57%) were females, with a male:female ratio of 1:1.33. A history of trauma was recorded in 32 (57%) patients of the lower lip. The intraoral sites were the lower lip (38 [68%]), tongue (10 [18%]), and floor of the mouth (8 [14%]). Of the 56 patients, 44 (79%) were EM and 12 (21%) were ranulas. No RMs were found. Mucoceles ranged from 0.3 to 3.8 cm in diameter (mean 0.9 cm). The treatment of EMs was surgical excision. Cryosurgey, electrosurgery, and carbon dioxide laser were also used. CONCLUSION: In contrast to adults, where EM and RM types can be found, among children all cases are of the EM type. The disparate site and age incidences of EMs and RMs of the oral mucosa suggest that these two types are not related and possibly have a different etiopathogenesis.

Pleomorphic adenoma occurring outside the submandibular gland: a case report of an accessory submandibular gland.

The accessory submandibular gland is a rare anatomic variant and the incidence of pathology reported within an accessory submandibular gland is even rarer. This report describes the case of a 22-year-old woman who presented with a slowly enlarging mass in the submandibular triangle, which on ultrasound examination suggested that it was close to, but not arising from, the submandibular gland. Fine-needle aspiration cytology was consistent with a pleomorphic adenoma. At surgery, the tumor was found to be entirely separate from the submandibular gland. This case presents an extremely rare occurrence of an accessory submandibular gland and, to the authors' knowledge, is the first report of a pleomorphic adenoma occurring within an accessory submandibular gland.

Cytogenetics of central giant cell granuloma of the mandible.

PURPOSE: Central giant cell granuloma is a benign entity that commonly occurs in the mandible and maxilla. It is usually treated by surgical excision, varying from curettage to en bloc resection. Because the entity is more common in diseases such as neurofibromatosis, a genetic element may be involved in its pathogenesis. Cytogenetic studies of central giant cell granuloma affecting bone are rare, and to the authors' knowledge, there are none reported in the literature for central giant cell granuloma of the mandible. MATERIALS AND METHODS: The authors investigated the cytogenetic profile of a case occurring in the mandible. Fresh biopsy tissue was minced and cultured in RPMI-1640 medium. Cells were fixed and stained, and cytogenetic analysis was performed according to standard procedures. RESULTS: A clone with t(1;17;18) and other random numerical chromosomal changes was found. CONCLUSIONS: The significance of these findings in diagnosis and prognosis is currently unclear and further karyotyping studies are needed to more fully understand this tumor.

Metachronous pleomorphic adenomas occurring in the parotid and a minor salivary gland with genetic changes detected by comparative genomic hybridization.

A 32-year-old female underwent an extracapsular dissection for a pleomorphic adenoma (PA) of the parotid gland. Six months later, she presented with an increasing lump on the upper lip that, following excision, was confirmed to be a second PA. Formalin-fixed paraffin embedded tissues were analyzed for chromosomal aberrations. Comparative genomic hybridization analysis showed multiple chromosomal aberrations in the parotid PA. In comparison, no chromosomal aberrations were found in the lip PA. To our knowledge, metachronous benign pleomorphic adenomas occurring in both a major and minor salivary gland is unreported, and furthermore, there are no comparative genomic hybridization reports of this rare occurrence. We discuss the clinicopathological implications.

Trisomy 7 as sole aberration in peripheral ameloblastoma of the mandible.

Peripheral ameloblastoma (PA) is a rare, extraosseous odontogenic tumor with histologic features similar to those of the more common intraosseous ameloblastoma. The exact nature and tumorigenesis of PA are unclear. Although there are some reports on the cytogenetics of intraosseous ameloblastoma, to the authors' knowledge, there are no studies on the cytogenetic analysis of PA. The cytogenetic analysis of a PA occurring in the gingiva of a 56-year-old man is presented. Trisomy 7 was the only cytogenetic aberration.

[Introsseous schwannoma of the mandible]. / Intraosser schwannoma a mandibulában.

Schwannoma is a benign neoplasm originating from the neural sheath and occuring most often in the soft tissues of the head and neck. Intraosseous schwannoma (IS) is extremely rare, most commonly occurring in the mandible. This paper documents a case of IS and the histopathology, karyotyping, CT, and MRI in the diagnostic work-up. Histologically it was a classic schwannoma. The karyotype was normal. CT demonstrated destruction of the mandibular canal while MRI detected encasement of the inferior alveolar nerve by the tumor, and consequently the need to resect the nerve together with the tumor. Using CT and MRI, the morbidity associated with the anticipated surgery can precisely be determined preoperatively.

Cystic lesions of the jaws - a clinicopathological study of 322 cases and review of the literature.

Three hundred and twenty-two patients (192 male and 130 female) with cystic lesions of the jaw were successfully diagnosed and treated. One hundred and fifty-five (48%) were radicular cysts, 80 (25%) were dentigerous cysts, 23 (7%) were odontogenic keratocyst (=keratocystic odontogenic tumor), 19 (6%) were eruption cysts, 16 (5%) were traumatic bone cysts, and 29 (9%) were non-odontogenic cysts. There were 95 in the pediatric age group (1 month to 16 years) and 227 in the adult age group (17 years and older). Male to female ratio was 1 in the pediatric age group and 1.7 in the adult age group. The treatment modalities were: marsupialization, enucleation, enucleation with bone grafting, or resection. The distribution and characteristics of jaw cysts in children are different from those in adults. In children there is a relatively high rate of developmental cysts, whereas in adults the inflammatory cysts are more common. Following enucleation of a cystic jaw lesion, the entire surgical specimen and not only a biopsy specimen, should be examined histopathologically to prevent any possibility of an intramural squamous cell carcinoma that may be overlooked. The differences in prevalence of each type of jaw cyst during a lifetime may point toward a multifactorial polygenic pattern rather than a monogenic pattern.

Chromosomal aberrations in minor salivary gland pleomorphic adenoma.

PURPOSE: Cytogenetic analysis of a pleomorphic adenoma (PA) arising in the major salivary glands, in particular the parotid, is well documented, with chromosome 8 being the most commonly involved aberration, mainly in t(3;8). However, cytogenetic studies of PA in the minor salivary glands (MSGs) are rare and, to the authors' knowledge, only 3 reports have been published. The authors investigated the cytogenetic abnormalities of a series of 6 PAs arising from MSGs and compared these with published findings from the parotid gland to determine whether the karyotype was the same in the 2 sites. MATERIALS AND METHODS: Six fresh samples of MSG PA were examined by classic cytogenetic analysis. The tissue was minced and cultured in RPMI-1640 medium. The cells were fixed after 2 to 8 days of culture and analyzed according to standard procedures. More than 25 metaphases were analyzed on G-banded slides, and the karyotype was described according to International System for Human Cytogenetic Numenclature guidelines. RESULTS: The spectrum of chromosomal aberrations found in the MSG PAs was similar to those reported in the major salivary glands in all 6 cases. CONCLUSIONS: Cytogenetically, there would seem to be no clear differences in PAs arising from the major salivary glands versus the MSGs. It is unknown whether the underlying tumorigenesis and chromosomal aberrations of PAs from major salivary glands and MSGs are similar, although the proportion of malignant tumors arising from the MSGs is much larger compared with the parotid. Further studies are needed in this area.

Cutaneous sinus tract of dental origin in children-a report of 28 new cases.

Little is known about the characteristics of cutaneous sinus tract (CST) of dental origin in children. 28 cases of CST of dental origin in children were evaluated. Age, sex, site of skin lesion, duration until diagnosis, teeth involved, etiology, treatment, and outcome were recorded. The last dental care visit was also recorded. The mean age was 10.25 years (range 4-16). The male to female ratio was 1:1.74. The mandibular-submandibular area was the most common site of skin lesions. The mandibular first molar was the most involved tooth, followed by the mandibular incisor. Caries was the most common etiology. The mean duration of lesions until correct diagnosis was 6.5 months (range 0.3-12 mos). The treatment was root canal therapy or extraction. After appropriate dental treatment, CSTs resolve rapidly. Surgical revision of the scars were indicated in eight (29%) patients, to provide better cosmetic results. In these patients, the duration of lesions were longer. Preventive dental care, as indicated by last dental care visit, was poor. CST in children is different from that in adults in terms of sites of skin lesions, duration of lesions, and involved tooth and similar to that in adults in terms of etiology and treatment modality. Early treatment of the dental infection may cause healing of the cutaneous lesion spontaneously, without a scar.

Metastatic neuroblastoma of the mandible: a cytogenetic and molecular genetic study.

Neuroblastoma (NB) jaw metastases are rare. Here, we report on cytogenetic and genetic studies on metastatic NB to the mandible. A 7-year-old boy, with an abdominal neuroblastoma, presented with a mass of the left body of the mandible. Cytogenetic analysis of the original tumor and the mandibular lesion biopsies revealed similar heterogenous subclones with 42 ~ 47,XY,+der(1)(q11 → qter),-2,del(7)(q21.1 → qter),-8,-9,-10,-11,del(11)(q13.3 → qter),-13,-14,-15,-17, + 18-18,der(18)(?),+21,+m1,+m2,+m3,+m4,+m5,+m6,+m7[cp25]. The different markers were identified by SKY analysis. Most of the cells carried 3-6 of these translocations: der(1;21), der(2;9;17), der(2;15;18), der(2;15;Y), der(8;10), der(10;17). Molecular examination using Neuroblastoma MLPA kit (MRC-Holland) revealed gain of 1q25, 1q42, 2q33, 2p23, 2p24 (N-myc), and 21q22, and loss of 11q22, 11q23, 17p13, and 17q11. FISH analysis using N-myc probe showed high amplification levels of N-myc. The cytogenetic and molecular genetic work-ups revealed that the mandibular lesion is a metastasis of the original abdominal tumor and not a second primary caused by the aggressive treatment. Clinical parameters such as : patient's age, site of primary tumor and the mandibular metastasis, together with poor prognosis genetic markers explain the patient's short-term survival.

Primary intraosseous squamous cell carcinoma arising in an odontogenic cyst: a clinicopathologic analysis of 116 reported cases.

PURPOSE: To review the literature on primary intraosseous squamous cell carcinoma (PIOSCC) associated with odontogenic cyst. METHODS: All well-documented cases of PIOSCC published between 1938 and 2010 were collected. Only cases of PIOSCC arising from the lining of an odontogenic cyst, including the keratocystic odontogenic tumor, were selected. Age, sex, signs and symptoms, affected jaw, cyst type, treatment, histopathology, and outcome were recorded. RESULTS: The mean age was 60.2 years (range 1.3-90). There were 80 (69%) men and 36 (31%) women. Mass and pain were the most common presenting symptoms. The mandible was affected in 92 (79%) patients and the maxilla in 24 (21%). It was a residual/radicular cyst in 70 (60%) patients and a dentigerous cyst or a keratocystic odontogenic tumor in the remaining 40%. The histopathology was well-differentiated SCC in 53 (46%) patients and moderately differentiated SCC in 47 (40%) patients. Fifty-three (46%) patients were treated with surgery alone and 44 (38%) with surgery and radiotherapy. Fifty-eight (62%) patients survived 2 years and 36 (38%) survived 5 years. CONCLUSION: PIOSCC has a predilection for men (M/F ratio of 2.22:1), affects mainly adults in their 6-8th decades, occurs most frequently (79%) in the mandible, and is associated mainly with a residual/radicular cyst. Histologically, the well-to-moderately differentiated SCC was the most common. Surgery alone or combined therapy of surgery and radiation was the most common approach. The prognosis is 62% surviving 2 years and 38% 5 years.

Oral lipoma: analysis of 58 new cases and review of the literature.

Lipomas are common soft-tissue tumors but occur infrequently in the oral region. Here, we present 58 new cases of oral lipoma (OL), their clinical features, diagnostic workup, and management. The records of 58 patients with OL were reviewed. Demographic data, presenting symptoms, primary tumor site, histopathology, and clinical management were analyzed. Extraoral and intraosseous lesions were excluded. The patients were 29 men and 29 women with mean age of 59.7 years, range, 11 to 98 years. Tumor sites included the buccal mucosa (n = 31), tongue (n = 10), lip (n = 6), floor of the mouth (n = 6), and vestibule (n = 5). The mean tumor size was 2.1 cm (range, 0.3-5.0 cm). The mean tumor duration before excision was 2.6 years (31.2 months), ranging from 2 months to 12 years. Most common presenting symptom was an asymptomatic, circumscribed mass. Histologically, the tumors were classified as classic lipoma (n = 28), fibrolipoma (n = 19), intramuscular lipoma (n = 4), minor salivary gland lipoma (n = 2), angiolipoma (n = 2), and spindle cell lipoma (n = 3). A case of spindle cell lipoma affecting the lower lip that has not been described previously is presented. The provided treatment was surgical excision. Although uncommon, OL are most common in adults and very uncommon in children. No sex predilection was found. The buccal mucosa region is the most common site followed by the tongue. Classic lipomas are most common in the oral region and comprise 48% of the tumors. A case of spindle cell lipoma of the lower lip is reported. Its clinical, histologic, and cytogenetic workup is the first well-documented case. Further cytogenetic studies should be undertaken to learn more about the pathogenesis and tumorigenesis of OL.

Translocation (12;14) and other chromosome abnormalities in squamous cell carcinoma of the tongue.

Tongue squamous cell carcinoma (SCC) has an increasing incidence, a high morbidity rate, and a 50% 5-year survival rate. The prognosis of tongue SCC is poor compared to SCC originating at other sites in the oral cavity, because they represent different biological subentities. Cytogenetic studies of head and neck SCC showed more losses than gains of various chromosomes or chromosomal segments. Among the frequent alterations there are losses of -4, -10, -13, -14, -18, -19, -21, -22, gains of +7, +8, +9, +16, +18, +20, and isochromosomes i(1q), i(3q), i(5p), i(8q). We are unaware of cytogenetic reports describing t(12;14) in tongue SCC. This is a cytogenetic study of SCC of the tongue. Tongue biopsy tissue was minced and cultured in RPMI-1640 medium. Cells were fixed and stained, and cytogenetic analysis performed according to standard procedures. A clone with t(12;14) along with other random numerical chromosomal changes was found in a case of tongue SCC. The significance of t(12;14) in diagnosis or prognosis is not clear and should be further examined. Karyotyping of more tongue SCC cases will expand the knowledge regarding chromosomal aberrations in SCC and thus might shed light on the significance of t(12;14) shown in this study.

Melkersson-Rosenthal Syndrome: the possible role of comorbidities in the etiopathogenesis.

BACKGROUND: Melkersson-Rosenthal Syndrome (MRS) is a rare syndrome. Recently, possible association between MRS and psoriasis was reported. Our objective is to evaluate the presence of comorbidities in MRS with a focus on psoriasis-related morbidities. METHODS: We conducted a case-control study consisting of a series of 12 patients with MRS and two groups of age- and gender-matched controls: 30 patients with psoriasis vulgaris and 28 patients with acute contact dermatitis. A comparative analysis for the prevalence of comorbidities, with a focus on psoriasis-related morbidities, was done. RESULTS: Psoriasis-related morbidities including smoking, obesity, dyslipidemia, hypertension, and diabetes mellitus were recorded in 5 (42%) patients with MRS, compared to 15 (50%) patients with psoriasis and 2 (7%) patients with acute contact dermatitis. The prevalence of psoriasis-related morbidities did not differ significantly between the group of patients with MRS and the group of patients with psoriasis. On the other hand, the difference between the group of patients with MRS and the group of patients with contact dermatitis was statistically significant (P=0.01). CONCLUSIONS: The similar prevalence of psoriasis-related morbidities in MRS and in psoriasis may further support an association between MRS and psoriasis.

Office-based ambulatory sedation--the use of the airway protector system during oral surgery: a prospective audit of the first 100 patients.

PURPOSE: To evaluate the efficacy of the "Airway Protector System" (APS), a simple homemade device used for airway control during office-based dental sedation. PATIENTS AND METHODS: A prospective audit was performed in 100 severely dental phobic patients submitted to dental treatment in a dentist office under propofol sedation. RESULTS: Sixty-eight females and 32 males were enrolled in this study. The mean age was 45 +/- 7 years (range, 18 to 67 years). A clear airway was obtained in 94 patients. Partial airway obstruction was observed in 4 patients but manual lifting of the jaw was enough to free the partial obstruction and dental treatment was uneventfully conducted. In 2 patients, the APS had to be converted to formal nasotracheal intubation because jaw-lifting maneuvers did not adequately relieve a partial airway obstruction. Sore throat was reported in 56 patients. In 27 cases, the patients rated the complaint as severe. No patient required a chest x-ray after sedation, as there was no clinical evidence of any pulmonary complication including dyspnea, cough, or fever. CONCLUSION: We suggest that the concomitant use of a homemade cuffed nasopharyngeal airway with continuous suction facilitates airway control during deep levels of office-based sedation for dental treatment in severely dental phobic patients.

Solitary angiokeratoma of the tongue.

Angiokeratoma is a rare cutaneous lesion. It can be either a generalized systemic form, presenting as multiple asymptomatic papules on the skin, associated with metabolic diseases or a solitary cutaneous form. Oral cavity involvement is more common in the systemic form, as a part of a more generalized cutaneous disease, but very rare in the localized form of angiokeratoma. A 45-year-old female presented with a painless lesion on the tongue of one months duration, which bled occasionally. On clinical examination, a lesion of approximately 5 mm in diameter was observed on the left surface of the tongue. The lesion was purple in color with a granulomatous appearance. There were no other changes in the oral mucosa. On dermatologic examination, no angiokeratomas were found, anywhere on the skin. The lesion was excised under local anesthesia. The histologic diagnosis was angiokeratoma. A case of a solitary angiokeratoma of the tongue is reported. We report here the third intra-oral case and the second case in the tongue with solitary angiokeratoma.

Intramuscular (Infiltrating) Lipoma of the Floor of the Mouth.

Lipoma is a very common soft tissue neoplasm, but only infrequently found in the oral region. Intramuscular lipoma (IML) is a relatively common variant of lipoma. The most common site for IML is the large muscles of the extremities, and it is quite rare in the oral cavity. A case of IML affecting the floor of the mouth/tongue of a 42-year-old female is described. The patient presented with a 4 cm diameter yellow mass in the right side of the sublingual area. Axial and coronal magnetic resonance imaging demonstrated its infiltrating nature that can be distinguished from the ordinary well-encapsulated lesion. The lesion was excised with adequate surgical margins. Histopathologically, the lesion was composed of mature adipose tissue that infiltrated the muscle in a diffuse manner. No lipoblasts, atypical cells, or high mitotic index were found. There was no evidence of recurrence two years postoperatively. Review of the literature yielded that IML occurring in the sublingual region is extremely rare.

Chromosomal aberrations in oral solitary fibrous tumor.

The results of cytogenetic analysis of a solitary fibrous tumor (SFT) of the oral cavity in a 43-year-old man is reported. The abnormal cells carried a complex translocation with the karyotype 46,XY [15 cells]/46,XYt(1;17;18)(p13;q11.2;q21)[5 cells]. This is the first case reporting chromosomal aberrations in an oral SFT.