1/10. Sebaceous gland adenoma of the tarsal conjunctiva in a patient with muir-torre syndrome.PURPOSE: To highlight the recognition and diagnosis of muir-torre syndrome (MTS) in patients with sebaceous tumors of the eyelid/conjunctiva and to determine the role of immunohistochemical markers as a screening test in patients with muir-torre syndrome. DESIGN: Single interventional case report. methods: The clinical and family history was reviewed from the records of a 41-year-old man who had a sebaceous gland adenoma of the tarsal conjunctiva of the left upper eyelid. The lesion was completely excised and submitted for histopathologic examination. Immunohistochemical stains using an antibody to MSH2 were performed on the paraffin-embedded sections of the tumor. RESULTS: Histopathologic examination of the tumor showed a lobular pattern with basaloid cells at the periphery of the lobules with central areas of sebaceous differentiation. Immunohistochemical stains showed a lack of MSH2 expression in the tumor, which is highly consistent with MTS. CONCLUSIONS: muir-torre syndrome should be considered in patients initially seen with sebaceous tumors of the eyelid. immunohistochemistry for MSH2 is a practical initial approach to screen for MTS in patients with sebaceous tumors.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/10. Brooke-Spiegler syndrome with parotid gland involvement.Salivary gland involvement in Brooke-Spiegler syndrome (BSS), an autosomal dominantly inherited disease, is known though not frequent. A case of familial cylindromatosis with parotid gland adenoma is herein reported. A 67-year-old lady presented with multiple scalp nodules and papular coalescent lesions over the nasolabial folds and the forehead. The clinical examination also revealed a left preauricular lump. Multiple biopsies of the scalp lesions and the nasolabial papules revealed cylindromas and trichoepitheliomas respectively. CT scan and FNA of the preauricular lump were suggestive of parotid gland adenoma. The patient underwent excision of the scalp cylindromas and total left parotidectomy. There is no evidence of recurrence after 4 years. The association of BSS with salivary gland tumours, emphasizes the necessity of thorough salivary gland examination in all patients with skin lesions. knowledge of the genetic background of BSS allows for genetic counseling of patients.- - - - - - - - - - ranking = 1.8keywords = gland (Clic here for more details about this article) |
3/10. Different phenotypes in muir-torre syndrome: clinical and biomolecular characterization in two Italian families.The muir-torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one member of a family with a 'peculiar' MTS phenotype without sebaceous lesions, but with only multiple keratoacanthomas, were analysed for microsatellite instability (MSI) and by immunohistochemistry. Tumours of both individuals showed MSI, with a concomitant lack of MSH2 immunostaining in all evaluated skin and visceral lesions; moreover, in the proband of family 2 a constitutional mutation (C-->T substitution leading to a stop codon) in the MSH2 gene was identified. We conclude that the diagnosis of MTS, which is mainly clinical, should take into account an ample phenotypic variability, which includes both cases with typical cancer aggregation in families and cases characterized by the association of visceral malignancies with multiple keratoacanthomas (without sebaceous lesions), without an apparent family history of cancer.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
4/10. Attenuated familial adenomatous polyposis and muir-torre syndrome linked to compound biallelic constitutional MYH gene mutations.Attenuated familial adenomatous polyposis and muir-torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. muir-torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.- - - - - - - - - - ranking = 0.6keywords = gland (Clic here for more details about this article) |
5/10. Multiple mucosal neuromatosis.Four children aged 3 months to 14 years presenting with multiple mucosal neuromatosis (MMN) and having medullary carcinoma of the thyroid (MCT) along with various other associated features are reported. All patient had screening test for pheochromocytoma. thyroid gland and Neuromatous growths were subjected to histological examination for confirmatory diagnosis. All patients were subjected to total thyroidectomy with removal of regional lymph nodes. They were evaluated periodically for a variable post-operative period at 2 to 4 years. The first degree relatives were also screened. One of the four children had left sided pheochromocytoma which responded satisfactorily to the adrenalectomy. Prophylactic total thyroidectomy with annual/biannual critical review to detect recurrence is advocated. It is recommended that first degree relatives of familial MMN Syndrome should also be subjected to annual screening in view of its autosomonal dominant transmission.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
6/10. Genitourinary tumors in men with the muir-torre syndrome.The muir-torre syndrome is an autosomal dominant genodermatosis characterized by the occurrence of one or more sebaceous gland tumors (either adenoma, epithelioma, or carcinoma) and a single malignant internal neoplasm. To date, 133 cases of muir-torre syndrome have been described. Colorectal (49%) and genitourinary (21%) carcinomas are the most common initial neoplasms. The case of a man with a history of recurrent ocular sebaceous carcinoma who subsequently had seminoma is described, and previously published reports of men with muir-torre syndrome and genitourinary tumors are discussed. Including this report, an associated genitourinary tumor was the initial malignant internal neoplasm in 11 men with muir-torre syndrome. The detection of a genitourinary neoplasm preceded diagnosis of the patient's muir-torre syndrome-associated sebaceous gland tumor in five patients (45%). All patients with sebaceous gland tumors of the type associated with muir-torre syndrome warrant consideration of muir-torre syndrome and appropriate workup to detect asymptomatic malignant visceral neoplasms.- - - - - - - - - - ranking = 0.6keywords = gland (Clic here for more details about this article) |
7/10. Spiradenomas in Brooke-Spiegler syndrome.Brooke-Spiegler syndrome is an autosomal dominantly inherited disease characterized by the development of multiple trichoepitheliomas and cylindromas. Among other neoplasms that may also occur in Brooke-Spiegler syndrome are basal cell carcinomas and spiradenomas. Spiradenomas and cylindromas have so many features in common that they have been regarded as variants of the same neoplasm. This assumption was supported by the occurrence of both types of lesions in Brooke-Spiegler syndrome. We report a case of Brooke-Spiegler syndrome in which spiradenomas were found in the immediate vicinity of trichoepitheliomas and in continuity with follicles. Because of the embryonic relationship between follicles and apocrine glands, these features indicate that spiradenomas are apocrine neoplasms. We conclude that Brooke-Spiegler syndrome is an inherited disease that affects the folliculosebaceous apocrine unit.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
8/10. Sebaceous gland adenoma of the palpebral conjunctiva in a patient with Muir-Torre-syndrome: a case report.BACKGROUND: muir-torre syndrome (MTS) is a hereditary genodermatosis associated with internal malignancies. methods: We report the histological case of an atypical sebaceous gland adenoma of the palpebral conjunctiva in a 42-year-old female patient. RESULTS: The combination of this adenoma with atypical adenomatous hyperplasia of the endometrium and a strong family history of gastrointestinal and urogenital cancers led to the diagnosis of MTS. CONCLUSION: We present a case where the diagnosis of an atypical solitary sebaceous gland adenoma of the palpebral conjunctiva combined with a conspicuous personal and family history led to the diagnosis of MTS.- - - - - - - - - - ranking = 1.2keywords = gland (Clic here for more details about this article) |
9/10. Spectrum of malignancy and premalignancy in Carney syndrome.Carney syndrome is a rare, autosomal dominant, multi-system disorder comprising 8 well-characterized findings, only 2 of which need be present for a definitive diagnosis. Benign neoplasms are frequent, but malignancies are thought to be uncommon. We have studied a family to clarify the diagnosis and spectrum of clinical manifestations of the syndrome and to develop guidelines for management. The proposita, a 34-year-old woman had classic findings of Carney syndrome, invasive follicular carcinoma of the thyroid gland, Barrett metaplasia of the esophagus, neoplastic colonic polyps, bipolar affective disorder, and atypical mesenchymal neoplasm of the uterine cervix distinct from the myxoid uterine leiomyoma usually seen in this syndrome. Although thyroid gland neoplasm is rare in Carney syndrome, this patient's most aggressive manifestation was her thyroid carcinoma. The diagnosis of Carney syndrome was established in her 9-year-old son and is a probable diagnosis in her 12-year-old daughter. Endocrine manifestations were prominent in the family with at least 9 relatives in 3 generations affected with various endocrine abnormalities. The findings in this family indicate that the spectrum of manifestations in this pleiotropic gene apparently includes a malignant course with premalignant and endocrinologic disorders not previously recognized.- - - - - - - - - - ranking = 0.4keywords = gland (Clic here for more details about this article) |
10/10. A muir-torre syndrome family.The muir-torre syndrome is a rare autosomal-dominant disease involving sebaceous neoplasms as markers for multiple internal malignancies. Diagnostic criteria include at least one sebaceous gland adenoma, epithelioma, or carcinoma and at least one internal malignancy. The world literature contains 162 cases with 316 internal malignancies. Colorectal and urogenital malignancies predominate, and nearly half the patients had two or more internal cancers. The discovery of a muir-torre syndrome-associated sebaceous lesion is rare and should prompt an evaluation for internal malignancies. We report a family over five generations displaying this syndrome. The proband is a 44-year-old man with two skin and two colon malignancies who presented to our clinic with the chief complaint of an infected sebaceous cyst. The world literature is reviewed, and an emphasis on the surgeon's role in evaluation and treatment is discussed.- - - - - - - - - - ranking = 0.2keywords = gland (Clic here for more details about this article) |
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