Odontogenic Keratocysts as First Manifestation of Nevoid Basal Cell Carcinoma Syndrome: Surgical Management and Immunohistochemical Analysis.

Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder, with no gender predilection. Individuals with NBCCS are commonly diagnosed between 17 and 35 years old and can present multiple basal cell carcinomas scattered throughout the body, presence of recurrent and early-onset odontogenic keratocysts (OKCs) and skeletal abnormalities. This article describes a case of a 13-year-old white boy who referred complaining of facial asymmetry. Extraoral examination revealed volumetric increase displacing the nasal ala from the right side and extended to the zygomatic bone. The intraoral evaluation showed mixed dentition with moderate degree of malocclusion. In addition, bilateral vestibular fornix swelling was observed in the upper canine region. An increase in volume was also detected on the hard palate on the right side. Computed tomography revealed multiple hypodense lesions with cystic appearance. The aspiration was positive, with a yellowish aspirate of serous consistency of all lesions. Given the numerous lesions, it was decided to decompress them for posterior enucleation procedures. In addition to other manifestations, the patient was diagnosed with NBCCS. Although common, the occurrence of OKCs in pediatric patients, especially in multiple lesions, is highly indicative of NBCCS, and its investigation should be considered, even in the absence of other signs of this syndrome. Synchronous decompression was satisfactory and can be used in similar cases of multiple cystic lesions.

Low-Fat Plexiform Spindle Cell Lipoma With Prominent Myxoid Stroma: An Unusual Oral Presentation and Immunohistochemical Analysis.

Spindle cell lipoma (SCL) and pleomorphic lipoma constitute a spectrum of lipomatous lesions with distinctive clinicopathological features. Multiple variants of SCL have been reported including fibrous, plexiform, vascular, pseudoangiomatous, low-fat/fat-free, and myxoid changes. This paper describes an unusual patient with a 1-cm submucosal nodular lesion excised from the buccal mucosa of a 55-year-old woman with classic histopathological and immunohistochemical features of "low-fat" plexiform SCL with prominent myxoid stroma, which initially suggested a soft-tissue myxomatous lesion other than SCL. The current lesion exhibited microscopically few adipocytes supported by network-like myxoid proliferations with retraction artifacts from the surrounding stromal connective tissue. Immunohistochemistry was positive for vimentin, CD34, CD10, and S100, the latter only on adipocytes. The Ki-67 was <1%. Pan-cytokeratin (AE1/AE3), desmin, alpha-SMA, EMA, bcl-2, p53, and remarkably retinoblastoma protein (pRb) were negative. "Low-fat" plexiform SCL bear no significant prognostic significance, but this lesion may challenge the diagnosis even experienced pathologists.

Intraoral Pigmented Low-Grade Adenocarcinoma, Not Otherwise Specified: Case Report and Immunohistochemical Study.

Salivary adenocarcinoma, not otherwise specified (AdCaNOS) is a rare malignant tumor with potential diagnostic challenge, which mainly affects the parotid glands; however, the minor salivary glands can also be involved by AdCaNOS. This paper reports a case of a 45-year-old Afro-descendant woman complaining of a slow-growing mass with 6 months of evolution in the left superior vestibular fornix. Microscopic examination revealed an infiltrative epithelial neoplasm composed of predominantly solid growth pattern, arranged in a lobular configuration, admixed with glandular or ductal structures. Perineural invasion was evident. The tumor cells were polygonal or oval showing focally mild nuclear pleomorphism, and eosinophilic or clear cytoplasm. Notably, some areas exhibited intracytoplasmic pigment granules mainly in non-luminal cells, as well as sebaceous-like cells, discrete hyaline material deposition and foci of infiltration of residual salivary gland parenchyma. Tumor cells were negative for PAS, mucicarmine and Alcian blue stains. By immunohistochemistry, the tumor cells were diffuse and strongly positive for pan-cytokeratin (CK) AE1/AE3, 34betaE12 CK, vimentin, p63 and S100. CK7 and EMA strongly highlighted the ductal structures. Solid areas also showed diffuse and moderate expression of CD56. Podoplanin (D2-40), GFAP and Calponin, followed by DOG-1, were focally positive; whereas CK20, α-SMA, h-Caldesmon, CD57, ERBB2/HER2 and p53 were negative. Ki-67 was < 2%. Consecutive serial tissue sections using CD57 confirmed the perineural invasion. Positivity for HMB-45 and MART-1/Melan-A, as well as Fontana-Masson stain (and potassium permanganate bleaching-sensitive), identified the pigment granules as melanin. To the best of our knowledge, this is the first case of intraoral low-grade AdCaNOS with intracytoplasmic melanin granules.