1/46. Acrochordons are not a component of the birt-hogg-dube syndrome: does this syndrome exist? case reports and review of the literature.Multiple fibrofolliculomas, trichodiscomas, and acrochordons compose the triad of cutaneous lesions characterizing the birt-hogg-dube syndrome, inherited in an autosomal dominant fashion. We report a case of a family who had the triad of tumors of the birt-hogg-dube syndrome. Two members were observed clinically and histologically. Biopsies of the facial papules disclosed features of the fibrofolliculoma/trichodiscoma spectrum. Lesions that were clinically acrochordon-like proved to correspond to the same histopathologic spectrum. The characterization of the nature of the acrochordon-like lesions in our patients and the review of the literature allow us to question if acrochordons (skin tags) should be maintained as a component of this association. In light of our conclusion that fibrofolliculoma, trichodiscoma, and the acrochordon-like lesions are histologic variations of a single lesion, we further question whether the term "syndrome" is valid.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
2/46. Pulmonary hamartoma. A rare case report.Pulmonary hamartoma is a rare lung neoformation, usually symptomless and by chance discovered, of a probable dysontogenetic origin with prevailing cartilaginous tissue and adult, onset age. The Authors report a rare case of a 25-year-old student, symptomless and fortuitously found by means of a radiograph of the chest. Many interesting features characterize the case report: histological nature of the pulmonary hamartoma, mainly vascular, so much as to feign an angiosarcoma at the macroscopical examination, and with small peripheral calcifications as shown by lung CT scan; the measures (about 7 cm) plentifully above the parameters usually reported in the literature (from 2 cm to 4 cm); the young onset age (about 10 years old). We may consider a case exceptionally reported in the literature. Besides, on the base of a few studies and of our experience, the results of the pulmonary hamartoma growth rate and doubling time are reported.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
3/46. Retrorectal cystic hamartoma: report of 5 cases with malignancy arising in 2.BACKGROUND: Retrorectal cystic hamartomas, or tailgut cysts, are rare congenital lesions that typically present as presacral masses. These lesions are frequently clinically unrecognized and misdiagnosed. Malignant change is extremely rare. Only 10 additional cases with associated malignancy were recovered from the literature. We describe the clinicopathologic features of 5 cases, including 2 cases with malignant transformation. RESULTS: All patients were women (age range, 36-69 years). The most common symptoms were pain with defecation and rectal bleeding. One patient was asymptomatic. All lesions presented as multicystic presacral masses and all were surgically resected. The lesions varied in size from approximately 2 to 12 cm (average, 9.5 cm) and overall had similar histology composed of a variety of epithelial linings (stratified squamous, transitional, and simple or ciliated pseudostratified columnar). skin adnexa, neural elements, and heterologous mesenchymal tissue, discriminators between retrorectal cystic hamartoma and teratoma, were not identified. Arising in association with the cysts was a focus of adenocarcinoma in one case and a neuroendocrine carcinoma in another. CONCLUSIONS: The clinical diagnoses in our cases were often delayed, which in part may be due to unfamiliarity with this entity. The main diagnostic difficulty is distinction from presacral mature cystic teratomas and rectal duplication cysts. Tailgut cysts require complete surgical excisions to prevent future recurrences and to preclude possible malignant transformation. Meticulous gross examination and adequate sampling are important to document the exact nature of these cysts and to rule out possible coexisting malignancies, which may be focal.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
4/46. hemifacial spasm or subcortical epilepsy?A child with Goldenhar's syndrome presented at about one week of age with stereotyped, repetitive paroxysmal episodes of hemifacial contraction, suggestive of partial seizures or hemifacial spasm. Later in life he also developed independent, permanent abnormal eye and chin movements identical in rhythm to those seen in myorhythmias, suggesting involvement of the dentato-olivary pathway. MRI demonstrated a hamartomatous lesion at the level of the pontomedullary junction. We speculate that the nature of the lesion could be responsible for the partial seizures mimicking hemifacial spasm and that because of its location, this same lesion could also be implicated in the genesis of myorhythmias. The presence of a hamartomatous lesion in a region affected by the abnormal development of the first and second branchial arches is not fortuitous.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
5/46. Hamartomatous gastric polyposis in a patient with tuberous sclerosis.A 42-year-old female diagnosed with tuberous sclerosis was found to have multiple polyps in the fundus of stomach. On histologic examination, the lesions were hamartomatous polyps. In tuberous sclerosis, many lesions occur in multiple organs and there are several reports about the frequent association of hamartomatous polyps of the colon. However, gastric manifestation of tuberous sclerosis has not been established probably due to its asymptomatic nature. This is the first report of multiple gastric hamartomatous polyposis in patient with tuberous sclerosis.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
6/46. Surgical treatment of hypothalamic hamartoma and refractory seizures: a case report and review of the literature.Refractory gelastic seizures are often associated with hypothalamic hamartoma (HH). Presurgical evaluation in such children often points to a distinct cortical region as the source of the seizures. A case of a child with HH and refractory seizures is presented. Video-EEG monitoring revealed a well-defined epileptic focus in the left frontal region. In accordance with the current understanding of the nature of hamartoma-related seizures, the hamartoma was resected. Follow-up evaluations revealed a marked improvement in seizure frequency and global functioning.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
7/46. hamartoma of the spleen: a manfestation of tuberous sclerosis.An unusual case of tuberous sclerosis is presented in which splenomegaly and abdominal pain predominated. The clinical manifestations of the disease are discussed, and the generalized hamartonmatous nature of the diseases is emphasized.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
8/46. CD-34 and Ki-67 staining patterns of basaloid follicular hamartoma are different from those in fibroepithelioma of Pinkus and other variants of basal cell carcinoma.BACKGROUND AND AIMS: Basaloid follicular hamartoma is a rare disorder regarded as a developmental malformation. It may be solitary or generalized, linear or regionalized, and is sometimes associated with myasthenia gravis or alopecia. We compared immunohistochemical staining patterns of selected markers in order to differentiate this hamartoma from fibroepithelioma of Pinkus, a basal cell carcinoma variant it can be confused with. methods: The expression of three immunohistochemical markers--CD-34, Ki-67, bcl-2--was studied in a basaloid follicular hamartoma and in a fibroepithelioma of Pinkus. Two basal cell carcinomas, a nodular and a fibrosing type, and a trichoepithelioma were included as controls. RESULTS: Basaloid follicular hamartoma shows a low proliferation index and an at least focally circumferential expression of CD-34 around the epithelial strands. This compares to the findings in trichoepithelioma. In contrast, fibroepithelial tumor of Pinkus and two other basal cell carcinoma subtypes display a high proliferative index and an absence of CD-34 expression around the epithelium. These findings support the non-neoplastic nature of basaloid follicular hamartoma.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
9/46. Heterotopic pancreatitis: gastric outlet obstruction due to an intramural pseudocyst and hamartoma.Heterotopic pancreas, usually a silent gastrointestinal malformation, may become clinically evident when complicated by chronic inflammation. We report a case of pancreatitis and extensive pseudocyst formation in the gastric antrum, which caused gastric outlet obstruction. The diagnosis was obscured by a history of emesis during pregnancy and a previously resected gastric polyp. The nature of the obstructive lesion was not diagnosed preoperatively in spite of endosonographic evaluation. Intraoperatively, a cystic tumor of the stomach wall was found, the lesion was excised, and a pyloroplasty was performed to close the excision site. histology revealed heterotopic pancreatic tissue with chronic inflammation, fibrosis and pseudocyst formation and adjacent to this lesion a myoglandular hamartoma. The patient is symptom-free two years after surgery and no recurrence was found. The nature of heterotopic pancreatic tissue, its diagnosis and management are discussed.- - - - - - - - - - ranking = 2keywords = nature (Clic here for more details about this article) |
10/46. Eccrine angiomatous hamartoma: a multiple variant.A case of multiple eccrine angiomatous hamartoma present in a boy since birth is reported. Clinically, this condition must be differentiated from other neonatal angiomatoses. Sometimes the clinical findings are nonspecific, whereas histologic examination may exclude angiomatoses with visceral involvement. In our case the hamartomatous nature of this tumor is documented also by the presence of pilar structures intimately related to the eccrine-angiomatous complex in one of two lesions histologically examined. Therefore, the histologic classification of eccrine angiomatous hamartoma into subgroups seems to be excessive.- - - - - - - - - - ranking = 1keywords = nature (Clic here for more details about this article) |
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