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.

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.

Adhesion and invasion of Streptococcus pneumoniae to primary and secondary respiratory epithelial cells.

The interaction between Streptococcus pneumoniae (S. pneumoniae) and the mucosal epithelial cells of its host is a prerequisite for pneumococcal disease development, yet the specificity of this interaction between different respiratory cells is not fully understood. In the present study, three areas were examined: i) The capability of the encapsulated S. pneumoniae serotype 3 strain (WU2) to adhere to and invade primary nasal­derived epithelial cells in comparison to primary oral­derived epithelial cells, A549 adenocarcinoma cells and BEAS­2B viral transformed bronchial cells; ii) the capability of the unencapsulated 3.8DW strain (a WU2 derivative) to adhere to and invade the same cells over time; and iii) the ability of various genetically­unrelated encapsulated and unencapsulated S. pneumoniae strains to adhere to and invade A549 lung epithelial cells. The results of the present study demonstrated that the encapsulated WU2 strain adhesion to and invasion of primary nasal epithelial cells was greatest, followed by BEAS­2B, A549 and primary oral epithelial cells. By contrast, the unencapsulated 3.8­DW strain invaded oral epithelial cells significantly more efficiently when compared to the nasal epithelial cells. In addition, unencapsulated S. pneumoniae strains adhered to and invaded the A459 cells significantly more efficiently than the encapsulated strains; this is consistent with previously published data. In conclusion, the findings presented in the current study indicated that the adhesion and invasion of the WU2 strain to primary nasal epithelial cells was more efficient compared with the other cultured respiratory epithelial cells tested, which corresponds to the natural course of S. pneumoniae infection and disease development. The target cell preference of unencapsulated strains was different from that of the encapsulated strains, which may be due to the exposure of cell wall proteins.

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.

Oral squamous cell carcinoma in patients twenty years of age or younger--review and analysis of 186 reported cases.

To review the literature on reported cases of squamous cell carcinoma (SCC) of the oral cavity in patients twenty-years-of-age or younger. All well-documented cases of oral SCC in patients twenty-years-of-age or less, published between 1936 and 2012, were collected and the clinicopathologic features were evaluated. Primary cases of oral SCC were selected. Age, gender, intra-oral subsite were recorded. A total of 88 articles describing 186 cases were included. The group of otherwise healthy patients had a mean age of 14.08years (range newborn-20years), the m:f ratio was 1.36; the oral subsites were the tongue, gingiva, and lower lip. A second group of patients who have disorders that predispose to cancer development, such as xeroderma pigmentosum, Fanconi's anemia, and a history of bone marrow transplant, had a mean age of 13.17years (range 5-20years); the m:f ratio was 1.23; the oral subsite was mainly the tongue. There was a slight difference between otherwise healthy patients and patients with predisposing systemic factors, but this difference was not statistically significant. It contrast to adults, there is only a weak predilection for males (m:f ratio of 1.23-1.36). In the young population SCC occurs most frequently in the tongue, followed by gingiva and lips. Unlike in adults, SCC is very uncommon in the floor of mouth. Oral SCC may, indeed, occur in patients younger than 20years and clinicians should take cognizance of this. Periodical examination of the oral cavity of young patients is recommended in cases of systemic diseases that predispose to cancer development such as xeroderma pigmentosum, Fanconi's anemia, and a history of bone marrow transplant.

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.

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.

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.

Pathological fracture of the mandible in a paediatric patient with congenital insensitivity to pain with anhidrosis (CIPA).

Congenital insensitivity to pain with anhidrosis (CIPA) is a rare hereditary sensory and autonomic neuropathy (HSAN) characterized by pain, self-mutilating behaviour, anhidrosis and recurrent hyperthermia. CIPA has a multisystem involvement, including fractures of the extremities with slow healing, immunologic abnormalities, and a chronic inflammatory state. The mandible is reported to have a higher incidence of osteomyelitis, though mandibular fracture among CIPA patients, is very rare, with to our knowledge no reports in children. A case of pathological fracture of the mandible in a 6-year-old child with CIPA treated by ORIF is reported. In contrast to the slow healing reported in long bones, the mandible healed very quickly, possibly indicating that the osteoporotic mandible in this group of patients is different from that seen in the elderly. Furthermore, the standard ORIF technique can be safely used in this rare group.

Chromosomal aberrations in adenomatoid hyperplasia of palatal minor salivary gland.

Adenomatoid hyperplasia of minor salivary glands is rare, idiopathic, and benign, and typically presents as a tumour-like mass in the hard or soft palate. Its exact nature is not clear and histological examination usually shows an excess of normal-appearing minor salivary glands. To our knowledge, cytogenetic analysis of it in a minor salivary gland of the palate has not previously been reported. We present the cytogenetic analysis of adenomatoid hyperplasia in the hard palate of a 52-year-old woman.

[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.

Ameloblastic fibroodontoma of the mandible with normal karyotype in a pediatric patient.

Background. Ameloblastic fibroodontoma (AFO) is a rare mixed odontogenic tumor with epithelial and mesenchymal components. AFO presents as a painless swelling in the mandible or maxilla. Radiographs show a well-defined radiolucent area containing various amounts of radiopaque material of irregular size and form. The common treatment is enucleation. It is not an aggressive tumor but recurrence and malignant transformation are possible. Methods. An AFO of the mandible of a 3-year-old female is reported. Panoramic radiograph and CT scan revealed a unilocular lesion with radiopaque center and radiolucent margins. Enucleation was performed with a good outcome. Results. Histopathology was a classic AFO. The karyotype was normal. No recurrence was noted at 12 months. Conclusions. As it is a benign tumor with low recurrence rate, conservative surgery is the treatment of choice. As malignant transformation to ameloblastic fibrosarcoma or ameloblastic odontosarcoma is possible despite the normal karyotype, long-term followup is recommended.

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.

Cytogenetic findings in benign and malignant oral tumors - the role of autologous human plasma.

The present study examined the possible use of autologous human plasma (AHP) to improve the in vitro culture for cytogenetics of benign and malignant oral tumor cells. The effect of AHP on the growth of a variety of benign and malignant head and neck tumor cells was studied by inverted microscope and cytogenetic analysis. Minced tumor biopsies of cases of hemangioma (HM), lipoma (LP), central giant cell granuloma (GC), pleomorphic adenoma (PA), schwannoma (SW), oral squamous cell carcinoma (SCC), Ewing sarcoma (ES), Merkel cell carcinoma (MCC) and adenoid cystic carcinoma (ACC), were cultured in medium supplemented with either AHP, allogeneic pooled human plasma (PHP), or fetal calf serum (FCS). More fibroblasts were seen in the FCS supplemented cultures, while in HP or PHP culture medium, more epithelial-like tumor cells were noted. The karyotypes of HM, LP, GC and PA were normal in all 3 different mediums. Cytogenetic analysis of SW and SCC revealed random numerical changes in all cultures. However, in AHP cultures a clone bearing translocation was found in SW t(2;13). In the SCC cultures one tumor had t(12;14) and the other t(3;21) translocations. Complex karyotype was found in all kinds of cultures in ES, MCC and ACC. AHP by itself does not cause chromosomal aberrations but may improve the ability to find chromosomal aberrations in some tumors over medium containing FCS. The spectrum of oral tumors where AHP can improve the cytogenetic analyses should be further studied on a greater number of tumors.

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.

Cytogenetics of primary embryonal rhabdomyosarcoma of the cheek.

Rhabdomyosarcoma (RMS) is the most common malignant soft tissue tumour of childhood and has two main subtypes: embryonal and alveolar. The embryonal subtype accounts for most cases in the genitourinary tract and head and neck. Oral presentations are rare, and mainly in the tongue, palate, or cheek. Cytogenetically, alveolar RMS is characterised by the translocation t(2;13)(q35;q14), which plays an important part in diagnosis, but no consistent and unique genetic alterations have been identified in embryonal RMS. It is currently not known whether oral embryonal RMS is similar to those that arise from other sites, as only one cytogenetic report has been published to date. We present the case of a 9-year-old boy with embryonal RMS of the cheek, and discuss the cytogenetic alterations in his case.