1/9. Cowden's syndrome. Case report, with reference to an affected family.Cowden's syndrome is a rare genodermatosis characterized by multiple hamartomas in several tissues and organs derived from all three embryonic layers. Clinical features of Cowden's disease are explained by the mutation of the PTEN tumour suppressor gene, whose modification leads to an uncoordinated growth of tissues. The importance of this disease lies in the increased susceptibility to malignization of some lesions, specially breast, thyroid and genito-urinary tract lesions. As a result, the disease has been considered a preneoplasic condition. Despite its varied phenotypic expression, this disease is generally unknown. Consequently, many cases are undiagnosed or diagnosis comes at a late stage, what points out the importance of an early diagnosis of the disease so the patient can have periodic check-ups to prevent malignant diseases. A family case is presented here, whose diagnosis was based upon oral clinical findings and which most distinct systemic alteration is the presence of hamartomatous polyps in the digestive tract in several family members.- - - - - - - - - - ranking = 1keywords = hamartoma (Clic here for more details about this article) |
2/9. Multiple oral fibropapillomatosis as an initial manifestation of Cowden syndrome. Case report.Cowden syndrome is a rare hereditary disease included within hamartoma-type gastrointestinal polyposis. It is characterised by associated mucocutaneous anomalies and by the extraordinary tendency to develop malignant neoplasia, mainly in the breast and thyroid. early diagnosis of the syndrome and adequate tumoral screening in patients with mucocutaneous papillomatosis make it possible to make an earlier diagnosis of associated pathologies which have great morbidity when detected late. We present the case of a patient diagnosed with Cowden syndrome after consultation for labial papillomatous lesions of long evolution who was subsequently treated for breast and kidney cancer in initial stages. The correct diagnosis of a banal pathology of oral mucosa made it possible for us to take early action against the neoplastic pathology associated with this disease.- - - - - - - - - - ranking = 0.5keywords = hamartoma (Clic here for more details about this article) |
3/9. Mural tumors with cysts in the cerebral hemispheres of children.Thirteen infants and children with mural tumors (i.e., cysts with mural nodules) in the cerebral hemisphere are presented. The tumors comprise five benign astrocytomas, three ependymomas, two choroid plexus papillomas, one oncocytoma, one hamartoma, and one primitive neuroectodermal tumor. Computed tomography showed well-enhanced mural nodules. Cyst walls did not enhance in any but one, in which the enhancement was attributed to hemorrhage in the cyst. None of the cyst walls contained neoplastic cells. cerebral angiography was performed in all patients, and five showed extensive vascularity in the tumor nodule. The importance of preoperative angiography is emphasized. Total extirpation of the mural nodule without excision of the cyst wall led to excellent prognosis for these patients.- - - - - - - - - - ranking = 0.5keywords = hamartoma (Clic here for more details about this article) |
4/9. Multiple hamartoma syndrome (Cowden's disease).The four male patients with multiple hamartoma syndrome (Cowden's disease) in this report, have most of the previously reported findings associated with this syndrome and several important unreported findings that include multiple cutaneous trichilemmomas, cafe-au-lait spots, cutaneous squamous cell carcinoma, pathologic fracture, craniomegaly, probable malignant lung tumor, retinal glioma, drusens of the optic disk and retina, pseudotumor cerebri, mediastinal mass, and multiple small papillomatous lesions of the esophagus, stomach, and duodenum.- - - - - - - - - - ranking = 3919.0995882309keywords = hamartoma syndrome, hamartoma (Clic here for more details about this article) |
5/9. Lhermitte-Duclos disease and Cowden's syndrome in an adolescent patient. Case report.Recent reports of seven cases of Lhermitte-Duclos disease occurring in adult patients with Cowden's syndrome (multiple hamartoma syndrome) strongly suggest that Lhermitte-Duclos disease is one of the types of neoplasia that characterize this syndrome. A case of Lhermitte-Duclos disease is reported in a 16-year-old girl with craniomegaly, choroidal hamartoma, and conjunctival papilloma of the right eye, and a history of bilateral multinodular adenomatous goiter and cystic hygroma. These findings strongly suggest a diagnosis of Cowden's syndrome. Although the syndrome traditionally has been defined by mucocutaneous criteria, it typically also involves hamartomas and neoplasia of internal organs, most commonly in the thyroid, breast, and female genitourinary tract. Because the mucocutaneous features may develop several decades after birth, the present case both supports the previously reported association between Lhermitte-Duclos disease and Cowden's syndrome and highlights the need for long-term follow-up monitoring of a pediatric patient with Lhermitte-Duclos disease because of the risk of malignancies associated with Cowden's syndrome.- - - - - - - - - - ranking = 784.81991764618keywords = hamartoma syndrome, hamartoma (Clic here for more details about this article) |
6/9. Changes of verruciform xanthoma in an hiv-1 patient with diffuse psoriasiform skin disease.Verruciform xanthoma occurs most commonly in the oral mucosa; however, rare cutaneous lesions have been described. Although the pathogenesis of this entity is not known, dysregulation of epithelial proliferation and degenerative changes in the epithelium may explain the occurrence of this lesion in association with inflammatory dermatoses, epithelial hamartomas, and epithelial dysplasia. We report an hiv-1 patient with diffuse psoriasiform skin lesions that showed histologic changes of verruciform xanthoma.- - - - - - - - - - ranking = 0.5keywords = hamartoma (Clic here for more details about this article) |
7/9. Multiple hamartoma syndrome presenting with oral lesions.Multiple hamartoma syndrome (Cowden's syndrome), a rare genodermatosis with predominant mucocutaneous features, particularly hamartomas, and Cowden/Lhermitte-Duclos disease, the combination of multiple hamartomas with cerebellar hypertrophy, typically present with cutaneous and oral papillomatosis as major features of both uncommon disorders. This article details the clinical features of three patients with multiple hamartoma syndrome and one with both disorders.- - - - - - - - - - ranking = 4703.9195058771keywords = hamartoma syndrome, hamartoma (Clic here for more details about this article) |
8/9. Congenital Becker's nevus with a familial association.Becker's nevus is a unilateral, hyperpigmented cutaneous hamartoma usually with hypertrichosis. It occurs predominantly in boys, becoming apparent during adolescence, although several cases of congenital Becker's nevus have been reported. Rarely it may be familial and as such is transmitted in an autosomal dominant pattern. We report a 16-month-old black boy with a hyperpigmented patch on his right shoulder and upper pectoral area that extended down his arm. The patient's father has a similar lesion with hair on his left shoulder which has been present since childhood. histology of the child's lesion was consistent with Becker's nevus. We believe this to be the first reported case of a congenital Becker's nevus with a familial association.- - - - - - - - - - ranking = 0.5keywords = hamartoma (Clic here for more details about this article) |
9/9. Cowden's disease--a report on the first case in korea and literature review.Cowden's disease, or multiple hamartoma syndrome, is an uncommon condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. We describe a 32-year-old man with oral mucosal papillomatosis and plantar hyperkeratosis as a definite case of Cowden's disease according to the criteria proposed by Salem and Steck. The patient also had a thyroid mass and numerous gastrointestinal polyps endoscopically. Histologically the polyps were hamartomatous or hyperplastic polyps. The oral papillary lesions were fibroepithelial polyps and the thyroid mass was a follicular adenoma. We review the literature on this entity and summarize the pertinent findings. To the best of our knowledge, this is the first documented case of Cowden's disease in a Korean.- - - - - - - - - - ranking = 784.31991764618keywords = hamartoma syndrome, hamartoma (Clic here for more details about this article) |