Oral leiomyomatous hamartoma: presentation of 3 cases and review of the literature.

Oral leiomyomatous hamartoma (OLH) is a rare lesion, with only 40 cases reported in the literature. It typically presents early in life as a nodule on the anterior maxillary alveolar tissues or the tongue. Its growth potential is limited, with few cases reaching dimensions >2.0 cm, and its microscopic composition includes an intact surface mucosa with an underlying fibrovascular stroma possessing an unencapsulated proliferation of smooth muscle fascicles. Excision is considered the definitive treatment. Here we describe the clinical, microscopic, histochemical, and immunohistochemical features and management of 3 cases of OLH and review the literature. The findings we present here can assist in performing differential diagnosis, particularly in discriminating between OLH and similar yet non-hamartomatous processes and in selecting appropriate management.

Oral Manifestations of Syphilis: a Review of the Clinical and Histopathologic Characteristics of a Reemerging Entity with Report of 19 New Cases.

BACKGROUND: Syphilis is a sexually-transmitted infectious disease caused by Treponema pallidum. Cases of primary and secondary syphilis are on the rise in the United States, with a 14.4% increase in new cases noted from 2017 to 2018 and an escalation of 71% between the years 2014 and 2018. Fulfilling its nickname of "the great imitator," oral manifestations of syphilis may mimic a variety of infectious, neoplastic, or immune-mediated processes, both clinically and histopathologically. This large spectrum of appearances can create a diagnostic challenge to the clinician and/or pathologist, leading to delay in diagnosis or misdiagnosis. METHODS: A database of oral syphilis cases was created from archives at the University of Kentucky, University of Pittsburgh, LIJMC, Columbia University MC, and University of Tennessee. The age, sex, race, location, duration, and clinical description were recorded. Cases without positive reaction upon immunohistochemistry or serologic tests were excluded. RESULTS: We identified 19 new cases of oral syphilis (17 males, one female, and one case unknown sex) and described the clinical and histopathological features of this re-emerging and potentially fatal disease. All cases demonstrated dense lymphoplasmacytic inflammation, often with inflammatory exocytosis or ulceration at the surface, and perivascular inflammation. CONCLUSIONS: Early recognition of the histopathologic and clinical manifestations of oral syphilis is imperative for prompt diagnosis, improved patient outcomes, and disease prevention.

USP6 Gene Rearrangement by FISH Analysis in Cranial Fasciitis: A Report of Three Cases.

Cranial fasciitis (CF) is an uncommon benign myofibroblastic proliferation involving the soft and hard tissues of the cranium. It typically occurs in the pediatric population with a male predilection (male-to-female ratio 1.5:1). The clinical presentation is usually a rapidly expanding, painless nodule. Bone erosion may be appreciated radiographically. Histopathologic sections of CF show plump, fibroblast-like cells with pale, oval shaped nuclei and prominent nucleoli in a fibrous or myxoid background. Growth is self-limited and surgical excision is considered curative. Due to these features, CF is thought to be a variant of nodular fasciitis (NF). As with NF, CF may mimic a sarcomatous process and pose a diagnostic challenge to clinicians and pathologists alike. Erickson-Johnson et al. identified rearrangements of the ubiquitin-specific protease 6 (USP6) gene in 44 of 48 cases of NF. MYH9 was the fusion partner in 12 of these cases. To date, the molecular profile of CF has not been studied. Here we present the molecular findings in three cases of CF identified at our institution. Each case was subjected to fluorescence in-situ hybridization with appropriate negative controls. Two of three cases were positive for the USP6 gene rearrangement. The third case failed to hybridize, likely related to nucleic acid damage secondary to decalcification. Negative controls did not demonstrate the genetic rearrangement. These findings warrant further investigation of the USP6 gene rearrangement in CF, as it may prove helpful as a diagnostic adjunct in challenging cases.

Congenital granular cell lesion of the tongue: a report of two cases and review of the literature.

The congenital granular cell lesion most commonly occurs on the maxillary or mandibular alveolus of neonates. Extra-alveolar congenital granular cell lesion is exceptionally rare, with only 10 cases reported. Two additional cases occurring on the tongue are presented with a description of the clinical, histopathologic, and immunohistochemical features. The differential diagnosis is discussed, and the literature reviewed.

The Role of Antiangiogenic Therapy in the Development of Osteonecrosis of the Jaw.

There is an increasing use of established and newer medications that have antiangiogenic properties. Inhibition of angiogenesis likely has either a primary or secondary role in the development of osteonecrosis of the jaw (ONJ). These medications are being used in the treatment of various cancers and in the treatment of several non-oncologic conditions. Antiangiogenic medications when used in combination with antiresorptive medications, such as nitrogen-containing bisphosphonates or denosumab, seem to increase the likelihood of osteonecrosis of the jaw. This review highlights the role of inhibitors of angiogenesis and their role in the development of osteonecrosis of the jaws.

Giant Cell Tumor of the Larynx Treated by Surgery and Adjuvant Denosumab: Case Report and Review of the Literature.

Giant cell tumor of the larynx (GCTL) is a rare entity; only 34 cases have been reported in the literature. We report a case of GCTL in a 46 year-old male presenting clinical, radiographic, histological and therapeutic features. Previously reported cases are also reviewed.

EWSR1 and ATF1 rearrangements in clear cell odontogenic carcinoma: presentation of a case.

Clear cell odontogenic carcinoma (CCOC) is a rare odontogenic tumor of the jaws that is more common in the mandible than maxilla and has a female preponderance with a peak incidence in the sixth decade. It is characterized by locally aggressive behavior and has the potential to metastasize. This tumor was recently reported to have a rearrangement of the Ewing sarcoma breakpoint region 1 gene (EWS RNA-binding protein 1, EWSR1) in 5 of 8 cases tested and of the activating transcription factor 1 gene (ATF1) in 1 case tested. We report a case of CCOC in the premolar area of the mandible in a 59-year-old woman. This case demonstrated the presence of both EWSR1 and ATF1 gene rearrangements by fluorescence in situ hybridization.

Laryngeal myxoma: a case report and review of the literature.

Myxomas are a rare benign neoplasm of uncertain mesenchymal cell origin, typically involving the heart. Laryngeal myxomas are uncommon, and are usually misdiagnosed as laryngeal polyp. To the best of our knowledge, there are only nine reported cases in the English literature. We report a case of a laryngeal myxoma presenting clinically as a left vocal cord polyp in a 77 year old male, and review the literature related to this rare entity.

Calcifying aponeurotic fibroma with bone islands exhibiting hematopoiesis: a case report and review of the literature.

Aponeurotic fibroma (AF) was originally described by Keasbey in 1953 as juvenile aponeurotic fibroma, most commonly occurring in the distal extremities. Initially described in children and adolescents, AF is now recognized to occur over a wide age range and at various anatomic sites. A variant of this lesion, termed calcifying aponeurotic fibroma (CAF) has been described. CAF is a slow-growing, solitary, and painless nodule often adherent to tendon, fascia, or periosteum. We report a patient who presented with a firm lobulated mass, portions of which were fixed to the left ascending mandibular ramus. The lesion represented a CAF arising juxtacortical to the mandible, with the calcified component composed of mature bone exhibiting focal areas of hematopoiesis. Additional reports of CAF occurring in the head and neck region are reviewed.

Labial salivary gland involvement in neonatal hemochromatosis: a report of 2 cases and review of literature.

Neonatal hemochromatosis (NH) is a severe disease of fetal or perinatal onset, in which iron deposition occurs within hepatic and extrahepatic sites without involving the reticuloendothelial system. Labial minor salivary gland biopsy has been suggested as a diagnostic adjunct in patients suspected of having NH, as hemosiderin accumulates in acinar epithelial cells. Prior to this salivary gland pathology, a diagnosis of NH was often delayed, rendered only after the usual causes of neonatal liver failure had been excluded. Recent studies have shown that early diagnosis and treatment can improve survival. Few cases of salivary gland hemosiderosis in NH have been reported in the literature. A positive finding of salivary gland siderosis on biopsy will expedite care. We report 2 cases of NH, of which a labial salivary gland biopsy supported the diagnosis. The clinical and histological features are presented. The NH literature pertaining to labial salivary gland pathology is reviewed.

Review of long-term adverse effects associated with the use of chemically-modified animal and nonanimal source hyaluronic acid dermal fillers.

Although only recently introduced, chemically-modified hyaluronic acid dermal fillers have gained widespread acceptance as "redefining" dermal fillers in the fields of dermatology and cosmetic facial surgery. Although hyaluronic acid-based dermal fillers have a low overall incidence of long-term side effects, occasional adverse outcomes, ranging from chronic lymphoplasmacytic inflammatory reactions to classic foreign body-type granulomatous reactions have been documented. These long-term adverse events are reviewed.

Clinically aggressive central giant cell granulomas in two patients with neurofibromatosis 1.

BACKGROUND: Neurofibromatosis 1 (NF1) is an autosomal dominantly inherited disorder caused by a spectrum of mutations affecting the Nf1 gene. Affected patients develop benign and malignant tumors at an increased frequency. Clinical findings include multiple cutaneous café-au-lait pigmentations, neurofibromas, axillary freckling, optic gliomas, benign iris hamartomas (Lisch nodules), scoliosis, and poorly defined soft tissue lesions of the skeleton. Kerl first reported an association of NF1 with multiple central giant cell granulomas (CGCGs) of the jaws. There have since been 4 additional published cases of NF1 patients with CGCGs of the jaws. CLINICAL CASES: We report on 2 patients who presented with NF1 and aggressive CGCGs of the jaws. In both cases, the clinical course was characterized by numerous recurrences despite mechanical curettage and surgical resection. CONCLUSIONS: We review proposed mechanisms to explain the apparent association between NF1 and an increased incidence of CGCGs of the jaws. While the presence of CGCGs of the jaws in patients with NF1 could represent either a coincidental association or a true genetic linkage, we propose that this phenomenon is most likely related to NF1-mediated osseous dysplasia. Compared to normal bone, the Nf1-haploinsufficient bone in a patient with NF1 may be less able to remodel in response to as of yet unidentified stimuli (e.g. excessive mechanical stress and/or vascular fragility), and consequently may be more susceptible to developing CGCG-like lesions. Alternatively, the CGCG in NF1 patients could represent a true neoplasm, resulting from additional, as of yet unidentified, genetic alterations to Nf1-haploinsufficient bone.