1/240. A case of multiple sebaceous epithelioma: analysis of microsatellite instability. Sebaceous gland tumor is a rare disease that is a sign of muir-torre syndrome, an autosomal, dominantly inherited genodermatosis characterized by the presence of at least one sebaceous gland tumor and a minimum of one internal malignancy. Recent studies have indicated that defective dna mismatch repair occurs in muir-torre syndrome. Cutaneous lesions may occur before diagnosis of the internal cancer. We describe a 64-year-old male patient with multiple sebaceous epitheliomas with no evident internal malignancy. microsatellite instability, determined by examining dinucleotide CA repeats at the microsatellite loci, was observed in DNA from one sebaceous epithelioma but not from the other two sebaceous epitheliomas or from one basal cell epithelioma with sebaceous differentiation, suggesting that this condition is unlikely to be due to germ-line mutation of mismatch repair genes. ( info) |
2/240. Sebaceous carcinoma presenting as a unilateral papillary conjunctivitis. PURPOSE: To describe a previously unreported presentation of sebaceous carcinoma, an aggressive tumor that often presents insidiously with minimal symptoms and nonspecific signs. methods: We report a 71-year-old man who presented with unilateral ocular irritation and ipsilateral, idiopathic, papillary changes of the superior palpebral conjunctiva. The patient underwent incisional biopsy of the palpebral conjunctiva followed by full-thickness excision of the involved eyelid. RESULT: Histopathologic examination established the diagnosis of sebaceous carcinoma. CONCLUSION: Unexplained asymmetric, papillary changes of the palpebral conjunctiva should arouse suspicion of sebaceous carcinoma. ( info) |
3/240. Cytologic features of metastatic sebaceous carcinoma: report of two cases with comparison to three cases of basal cell carcinoma. The cytologic findings of two cases of metastatic sebaceous carcinoma are described and compared to three cases of locally recurrent basal cell carcinoma. Morphological findings for sebaceous carcinoma in fine-needle aspiration biopsy (FNAB) smears included cellular, loosely cohesive cell clusters with central necrosis, squamous pearl formation, and adjacent keratin debris. The tumor cells had moderate amounts of vacuolated cytoplasm, round to oval vesicular nuclei with clumped chromatin, nucleoli, some nuclear overlap, and numerous mitotic figures. An interesting finding was the presence of numerous multinucleated giant cells, probably responding to extravasated lipid or keratin material. In contrast, the FNAB smears of basal cell carcinoma typically were less cellular, with more tightly cohesive and smaller clusters of uniform hyperchromatic basaloid cells with high nuclear to cytoplasmic ratios, and a narrow rim of cytoplasm without vacuolization. The morphologic features of sebaceous carcinoma in FNAB smears appear to be distinct from those of basal cell carcinoma. FNAB can be a useful preoperative diagnostic technique to distinguish these two cutaneous malignancies. ( info) |
4/240. Sebaceous carcinoma of the vulva. Extraocular sebaceous carcinoma is an uncommon neoplasm usually localized on the head and neck. sebaceous glands are abundant on the vulva, but vulvar sebaceous carcinoma is an uncommon neoplasm. To our knowledge, there are only five previously reported cases of sebaceous carcinoma on this location. We report an additional case of vulvar sebaceous carcinoma associated with bowen's disease in the overlying epidermis. The patient also had bowenoid papulosis involving the skin of labia majora. We analyzed by immunohistochemistry, Southern blot hybridization, and polymerase chain reaction (PCR) techniques for the presence of DNA of human papilloma viruses (HPVs) in the specimen of sebaceous carcinoma and in lesions of bowenoid papulosis. immunohistochemistry, Southern blot hybridization, and PCR studies in specimens of bowenoid papulosis lesions and sebaceous carcinoma did not detect DNA of HPVs. A significant increase in intranuclear p53 staining was demonstrated in several areas of neoplastic aggregations of sebaceous carcinoma. ( info) |
5/240. Synchronous ipsilateral sebaceous lymphadenoma and acinic cell adenocarcinoma of the parotid gland. The synchronous or metachronous occurrence of 2 tumors of the salivary glands in a patient is rare. These tumors are usually benign and of the same histologic type. Here we report a 78-year-old woman who developed a sebaceous lymphadenoma and an acinic cell adenocarcinoma simultaneously in the left parotid gland. To our knowledge, this combination of neoplasms has not been reported before. ( info) |
6/240. Posterior scleral choristoma in the organoid nevus syndrome (linear nevus sebaceus of Jadassohn). PURPOSE: To highlight the association of posterior osseous and/or cartilaginous ocular choristomas with epibulbar choristomas and the nevus sebaceus of Jadassohn. DESIGN: Small case series. PARTICIPANTS: Four patients with the organoid nevus syndrome. methods: Clinical and histopathologic studies in four patients with epibulbar lesions and nevus sebaceus of Jadassohn. MAIN OUTCOME MEASURES: Ophthalmoscopic findings of peripapillary lesions. Computed tomographic and ultrasonographic characteristic of posterior scleral lesions. Ocular histopathologic findings in one globe from one of the study subjects. RESULTS: Three patients had the triad of posterior osseous/cartilaginous ocular choristomas, anterior epibulbar choristomas, and nevus sebaceus of Jadassohn and one patient had anterior epibulbar choristomas and posterior osseous/cartilaginous ocular choristomas. ultrasonography and computed tomography were valuable in detecting scleral ossification or epibulbar cartilage or both. The ophthalmoscopic findings were similar to those of a choroidal osteoma. CONCLUSIONS: The presence of posterior osseous/cartilaginous ocular choristomas in a patient with epilepsy or epibulbar lesions or both suggests the diagnosis of nevus sebaceus of Jadassohn. Osseous/cartilaginous ocular choristomas should be suspected in patients with nevus sebaceus of Jadassohn and peripapillary hypopigmented fundus lesions. ( info) |
7/240. Trichoblastoma and sebaceoma in nevus sebaceus. We report two cases of an unusual combined adnexal neoplasm arising in a nevus sebaceus (NS). Clinically, both neoplasms presented in two women (46 and 78 years) as single, partially ulcerated nodules within NS situated on the scalp. Histopathologically, each neoplasm showed distinctive aggregations of basaloid cells with features of trichoblastoma adjacent to aggregations of neoplastic cells exhibiting features of sebaceoma. In both cases, typical features of NS were present. To the best of our knowledge, this unusual combined adnexal neoplasm comprised of trichoblastoma and sebaceoma could not be assigned to any previously described histopathologic entity. This "complex" adnexal neoplasm should be distinguished histopathologically from basal cell carcinoma with sebaceous differentiation and trichoblastoma with sebaceous differentiation. ( info) |
8/240. An unusual hematopoietic proliferation seen in a nevus sebaceous. nevus sebaceous is a tumor of primary epithelial germ cells that is generally first noticed at birth. It is relatively quiescent until puberty when a variety of benign and potentially malignant tumors may arise within it. We describe a nevus sebaceous with immature fat cells, vascular ectasia, and extramedullary hematopoiesis that was present at birth. At 4 months, the immature adipose and hematopoietic elements, as well as the vascular changes, had resolved. ( info) |
| A 59-year-old Japanese woman presented with two sebaceous neoplasms on the chest wall and on the left cheek. The patient had a history of ascending colon cancer, and her mother had died of gastric cancer. The histopathologic features of both sebaceous neoplasms were vaguely in accordance with those of sebaceous adenoma and sebaceoma. Based on these findings, we diagnosed the patient as having muir-torre syndrome. The sebaceous neoplasm on the chest wall exhibited features of a sebaceous adenoma with a unique cystic appearance, namely cystic sebaceous adenoma, which has been reported as a specific marker for muir-torre syndrome (MTS). However, histopathologically, both the sebaceous adenoma and sebaceoma had relatively large, vesicular or heterochromous and crowded nuclei with some pleomorphism and distinct nucleoli associated with some mitotic figures, casting doubt on their benignancy. We show that some or most benign sebaceous neoplasms in MTS might have a high potential for malignant transformation or may be well-differentiated sebaceous carcinomas with low-grade malignancy, mimicking sebaceous adenoma/sebaceoma. This results in difficulties in classification regarding sebaceous neoplasms in MTS. ( info) |
| Sebaceous gland carcinomas (SGCs) are rare malignant skin tumors occurring sporadically or as a phenotypic feature of the muir-torre syndrome (MTS). A subset of patients with MTS have a variant of the hereditary nonpolyposis colorectal cancer syndrome caused by mutations in mismatch repair (MMR) genes, which lead to microsatellite instability (MSI). We evaluated the value of MSI and loss of expression of the MMR genes, hMLH-1 and hMSH-2, as a marker to identify and distinguish MTS from sporadic SGC. Using a nationwide pathology report database system, we identified patients with the MTS phenotype. SGCs from 10 MTS patients and the colorectal carcinomas from 3 additional MTS patients were collected. In addition, SGCs from eight patients without a history of visceral neoplasm were collected. MSI was detected in 9 of 13 MTS-associated tumors (69%) versus 0 of 8 sporadic SGCs (P = 0.002). Except for the age of onset of colorectal carcinoma [58 years in the MSI-positive group versus 69.8 years in the MSI-negative group (P = 0.17)], no differences were seen between the MSI-negative and the MSI-positive MTS patients. Loss of expression of hMLH-1 (n = 4) or hMSH-2 (n = 4) was found in MSI-positive patients only. MSI and loss of expression of MMR genes can be used as markers for MTS in patients with SGC. Consequently, MSI and loss of MMR gene expression in a patient presenting with SGC as the initial malignancy have important consequences for the patient and family. There are at least two variants of MTS with different molecular genetic mechanisms because 31% of the patients with the MTS phenotype had no MSI. ( info) |