1/36. birt-hogg-dube syndrome and Hornstein-Knickenberg syndrome are the same. Different sectioning technique as the cause of different histology.The autosomal dominant inherited syndromes of Hornstein and Knickenberg (HKS), and Birt, Hogg and Dube (BHDS) are both characterized clinically by the overall spread of multiple flesh coloured papules of the skin. However, it is a matter of debate if colonic neoplasms (adenomas as well as adenocarcinomas) are associated findings in the HKS or rather in the BHDS. Furthermore, histological differences are said to exist between the skin lesions in the two syndromes: whereas perifollicular fibromas were described in the HKS, fibrofolliculomas and trichodiscomas were found in the BHDS. In the present study, we report on a father and his daughter in whom we initially diagnosed a BHDS. We then examined a greater number of the papular lesions in histologic sections cut vertically as well as horizontally to the epidermis. Our results indicate that the histologic differences between the skin lesions in the two syndromes are artificial ones, caused by interpretation of different sectioning planes, and that consequently HKS and BHDS are the same. Therefore, it is necessary to look for colonic polyps in the syndrome in question, regardless if one prefers the name HKS or BHDS for it.- - - - - - - - - - ranking = 1keywords = colon (Clic here for more details about this article) |
2/36. Multiple perifollicular fibromas.Perifollicular fibroma is a benign mesodermal tumour of the hair follicle. It can occur as a solitary papule or as multiple lesions that are clinically indistinguishable from other tumours of the pilar apparatus. Multiple perifollicular fibromas may be inherited although the pattern remains unclear. Adnexal tumours can be associated with internal malignancy and perifollicular fibromas have been linked with adenomatous colonic polyps. This report describes a patient with multiple perifollicular fibromas with no associated malignancy to date and a family pedigree suggestive of an autosomal dominant pattern of inheritance.- - - - - - - - - - ranking = 0.5keywords = colon (Clic here for more details about this article) |
3/36. Elastofibroma of the sigmoid colon.A case of elastofibroma occurring in the sigmoid colon of a 69 year-old woman is reported. The woman presented for survey of her gastrointestinal tract. colonoscopy disclosed two polyps in the sigmoid colon, one of which was clinically considered to be recurrent adenoma. Histologically, the lesion had characteristic eosinophilic fibers and globules, termed elastofibroma fibers with hematoxylin and eosin stain. In addition, these elastinophilic materials were digested by elastase. Histological evaluation confirmed the diagnosis of elastofibroma. Our case might suggest that it is the result of long-term fibrosis after previous endoscopic resection of a sigmoid colonic adenoma.- - - - - - - - - - ranking = 3.5keywords = colon (Clic here for more details about this article) |
4/36. Non-nuchal-type fibroma associated with Gardner's syndrome. A hitherto-unreported mesenchymal tumor different from fibromatosis and nuchal-type fibroma.We describe a unique benign mesenchymal tumor in paraspinal location in a 13-year-old patient with Gardner's syndrome. The Gardner's syndrome in this patient consisted of multiple (more than 100) polyps throughout the entire colon with most in the cecum and rectum, three osteomas in the frontal area of the skull and one in the third right rib, and multiple superficial skin tumors. One of these cutaneous tumors was excised and histologically diagnosed as an epidermal cyst. Both father and uncle of this patient suffered from Gardner's syndrome as well. Microscopically the mesenchymal tumor was histologically different from nuchal type fibroma and fibromatosis. It consisted of a diffusely-growing fibrous mass composed of dense collagenous fibers and relatively numerous, bland-looking, spindle-shaped cells. The collagen fibers had haphazard spacing with no lobular arrangement. The collagen fibers were of a very coarse quality. No entrapment of adipose tissue, skeletal muscle or peripheral nerves was seen in the lesion. Immunohistochemically the tumor was vimentin positive and smooth muscle actin, muscle-specific actin, S-100 protein, cytokeratin and desmin negative.- - - - - - - - - - ranking = 0.5keywords = colon (Clic here for more details about this article) |
5/36. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected gardner syndrome and risk for fibromatosis.gardner syndrome (GS), caused by mutations in the adenomatous polyposis coli (APC) gene, is characterized by polyposis coli, osteomas, and various soft-tissue tumors. If undetected or untreated, virtually all patients develop colonic carcinoma at a young age. Early detection, while essential, can be difficult because of attenuated phenotypes or spontaneous mutations. We present the clinicopathologic features of 11 identical fibromatous lesions that we have termed Gardner-associated fibroma (GAF), which not only appear to be a part of the spectrum of lesions associated with GS but, in some cases, represent the sentinel event leading to its detection. The GAFs occurred in 11 patients (5 boys and 6 girls; age range, 3 months-14 years), were solitary (n = 7) or multiple (n = 4), and occurred in the superficial and deep soft tissues of the paraspinal region (n = 7), back (n = 3), face (n = 2), scalp (n = 2), chest wall (n = 2), thigh (n = 1), neck (n = 1), and flank (n = 1). Histologically, GAFs resemble nuchal-type fibromas (NFs), consisting of thick, haphazardly arranged collagen bundles between which are found occasional bland fibroblasts, and having margins that frequently engulf surrounding structures including adjacent fat, muscle and nerves. After surgical excision, four patients developed recurrences that were classic desmoid fibromatoses (DFs). In one patient with multiple GAFs, one lesion had the features of GAF and DF in the absence of surgical trauma. A family history of GS or polyposis (n = 6) or DF (n = 1) was known at the time of surgery in seven patients. In three patients, the diagnosis of GAF resulted in the diagnosis of unsuspected APC in older family members, with the detection of an occult colonic adenocarcinoma in one parent. In the family of the remaining patient, no stigmata of GS were present. Genetic analysis of this child was performed to investigate the presence of a spontaneous (new) mutation; however, no abnormalities were detected. The significance of GAF is that it serves as a sentinel event for identifying GS kindreds, including those with a high risk for the development of DF, and it may potentially identify children with spontaneous mutations of the APC gene. Because NFs and GAFs resemble one another, we suggest that a subset of NF occurring in multiple sites, unusual locations, or children may be GAF.- - - - - - - - - - ranking = 1keywords = colon (Clic here for more details about this article) |
6/36. Infected papillary fibroelastoma attached to the atrial septum.A 61-year-old woman had intermittent fever of 2 months' duration following a dental extraction. On admission, her body temperature was 39.2 degrees C. A mid-systolic murmur was heard at the apex on ausculation. A 2-dimensional echocardiogram revealed a mobile, heavy stick-like mass with vegetation (5.0 x 1.5 cm) attached to the left atrial septum. Multiple blood cultures grew streptococcus constellatus. On diagnosis of an infected left atrial myxoma, antibiotics were administered daily and 4 weeks later, the left atrial tumor was resected. The tumor was 5.3cm long, 1.5cm in diameter at the inter-atrial wall and had vegetation on the free edge. On microscopic examination, colonies of gram-positive cocci were found in the thrombus, on the papillary fibroelastoma. After treatment with antibiotics for a further 4 weeks, the patient was discharged. This is the first report of infected papillary fibroelastoma.- - - - - - - - - - ranking = 0.5keywords = colon (Clic here for more details about this article) |
7/36. Perifollicular fibromatosis cutis with polyps of the colon--a cutaneo-intestinal syndrome sui generis.In the present study, a peculiar fibromatosis cutis in two siblings has been reported the dermatosis being characterized by innumerable perifollicular fibromas on face, neck and trunk as well as multiple fibromata pendulantia. Since the father allegedly had skin lesions resembling those of his two affected children, an inherited condition is assumed for the disease manifesting itself rather late in age. In the female patient, several adenomatous colon polyps one being transformed into carcinoma were found. Since the association of distinct epithelial and mesenchymal tumours of the skin and the cranial bones with multiple colon polyps is typical for Gardner's syndrome, we have discussed in detail the possiblity of an unknown variant of it. On the other hand, most features of Gardner's syndrome (cutaneous and subcutaneous epidermoid cysts, desmoid tumours, generalized osteomas, a marked multitude of colon polyps, early manifestation of skin and bone changes) were absent in both cases whereas, to our knowledge, in Gardner's syndrome perifollicular fibromas have never been seen. Since perifollicular fibromas are organoid tumours of the mesenchymal hair sheath being clearly defined both clinically and histologically, they must not be confused with the equally well characterized cutaneous tumours of Gardner's syndrome. We are prone to assume that the (irregular?) ASSOCAITION OF MULTIPLE PERIFOLLICULAR FIBROMAS AND COLON POLYPS Represents a distinct nosological entity neither identical with Gardner's syndrome nor with any other known dermo-intestinal syndrome. Thus, perifollicular fibromatosis should alert the dermatologist to consider periodic thorough examination for intestinal polyps the more as they may change into malignant growth.- - - - - - - - - - ranking = 3.5keywords = colon (Clic here for more details about this article) |
8/36. Extra-abdominal desmoid fibromatosis: two familial cases with synchronous and metachronous multicentric hyalinizing nodules.AIMS: Extra-abdominal desmoid fibromatosis is an uncommon tumour. We present here two exceptional familial cases of extra-abdominal desmoid fibromatosis, one of which was synchronous and metachronous. methods AND RESULTS: The first patient was a 37-year-old woman who had noted a tumour growing on the dorsum of her right foot when she was 12 years old. She underwent excision of the tumour but in the following year the tumour recurred locally and grew into multiple nodules. Subsequently, multicentric tumours appeared in her knee, distal and posterior aspects of her thigh, right back and right anterior shoulder. Polyostotic fibrous dysplasia of the femur and cranium was found on radiological examination. The second patient was a 74-year-old man, the uncle of the first patient. He underwent an excisional operation of a tumour on the internal malleolus surface of his fibula when he was 46 years old. The tumour recurred 7 years later and was excised. His post-operative course has been uneventful. The histology of the primary and recurrent tumours was distinctive and consistently showed hyalinizing scar-like features. CONCLUSIONS: Familial cases of extra-abdominal desmoid fibromatosis with extensive multicentric lesions and distinctive hyalinizing scar-like features are described. Recently, attenuated familial adenomatous polyposis with familial desmoid fibromatosis has been recognized, and familial desmoid fibromatosis without adenomatous polyposis may also be one of its variants. Although the present cases have no history of colon polyposis or carcinoma, monitoring of the intestinal tract would seem to be indicated.- - - - - - - - - - ranking = 0.5keywords = colon (Clic here for more details about this article) |
9/36. Congenital solitary intestinal fibromatosis.Neonatal intestinal obstruction due to a tumour is rare. We report a six-day-old male neonate who presented with abdominal distension and vomiting. laparotomy revealed colonic obstruction caused by a stenosing fibrotic lesion in the proximal transverse colon. Histopathological examination of the resected specimen confirmed fibromatosis. We believe this represents the third reported case of solitary colonic fibromatosis. The literature on neonatal intestinal fibromatosis is reviewed.- - - - - - - - - - ranking = 1.5keywords = colon (Clic here for more details about this article) |
10/36. Elastofibromatous polyp of the sigmoid colon--a case report and review of gastrointestinal elastofibromas.Elastofibromatous change in the gastrointestinal tract is a rarely reported, usually polypoid lesion of unknown etiology with submucosal stromal change that may mimic amyloid deposition. The constituent amorphous material of the polyp stroma has distinctive features that permit an accurate assessment and diagnosis including: distribution of the material predominantly in the submucosa; distinctive fibrillar and granular appearance of the deposits; thick, irregular, haphazardly arranged bundles of elastic fibres positive for Verhoeff's elastic stain; ultrastructural fibres with an electron dense curvilinear or beaded appearance; lack of amyloid type vascular wall deposits; and lack of amyloid congophilia or crystal violet metachromasia. The clinical, light microscopic, histochemical and ultrastructural characteristics of this deposited material are reviewed in detail in the present report of a patient who presented with an asymptomatic polypoid lesion of the sigmoid colon. Other reported cases are summarized, and their clinical and pathological features are compared with the current case.- - - - - - - - - - ranking = 2.5keywords = colon (Clic here for more details about this article) |
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