1/32. Genital angiofibromas in tuberous sclerosis: two cases.Cutaneous lesions are an important feature of tuberous sclerosis (TS). Facial angiofibromas usually begin to appear at the end of the first decade of life and are considered to occur in about 88% of adults with TS. They are only rarely reported on sites other than the face or front. In this paper, we report two patients with the complete syndrome of TS that had, in addition to classic facial lesions, multiple papules on the genital area. Histopathology confirmed the diagnosis of angiofibroma. One patient's lesions were misdiagnosed as genital warts and were so being treated before the correct diagnosis was made. Although we don't know the incidence of genital angiofibromas in TS patients, we believe that they might be underreported, because dermatologists generally don't look for them when they see these patients.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
2/32. Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.BACKGROUND: tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features. OBJECTIVE: Diagnosis can be very difficult in cases with incomplete manifestations (formes fruste) lacking the classic signs of the disease. MATERIALS AND methods: We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma. RESULTS: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, all but one without any clear sign of polycystic kidney disease, were found in the literature. CONCLUSION: We suggest that vascular dysplasias in general and aneurysms (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.- - - - - - - - - - ranking = 1.6keywords = sclerosis (Clic here for more details about this article) |
3/32. Resurfacing of facial angiofibromas in tuberous sclerosis patients using CO2 laser with flashscanner.BACKGROUND: Angiofibromas are a common presentation of tuberous sclerosis. They cause considerable cosmetic and hygienic morbidity for patients. Treatments of angiofibromas have included curettage, cryosurgery, chemical peel, dermabrasion, shave excision, and 13-cis retinoic acid. Results from these modalities in many cases were not satisfactory from a cosmetic standpoint. copper vapor, argon, pulsed dye, and CO2 lasers have been used with success in isolated cases. OBJECTIVE: The purpose of this study was to evaluate the efficacy of CO2 laser resurfacing with flashscanner in the treatment of facial angiofibromas. methods: Two patients with angiofibromas on the face were treated with a CO2 laser with flashscanner. The cheek and nose were treated in one patient, and entire face was done in the other. RESULTS: Both patients showed remarkable cosmetic improvements without scarring. Mild hyperpigmentation was found in both patients, which disappeared in 1 month with the application of topical agents. Facial erythema persisted about 2 months in both patients. CONCLUSION: A CO2 laser equipped with flashscanner causes less residual thermal damage than conventional CO2 lasers and enables controlled depth vaporization for more precise and regular removal of angiofibromas. In whole-face resurfacing, more cosmetically acceptable results are possible because localized treatment leaves marginal prominences. Laser resurfacing is an effective alternative in the treatment of multiple protuberant angiofibromas even though we cannot permanently clear these lesions due to their nature.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
4/32. Unilateral multiple facial angiofibromas: a mosaic form of tuberous sclerosis.tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe 2 patients with such a presentation and hypothesize that this is a mosaic form of tuberous sclerosis.- - - - - - - - - - ranking = 1.2keywords = sclerosis (Clic here for more details about this article) |
5/32. Pulmonary lymphangioleiomyomatosis in a man.Pulmonary lymphangioleiomyomatosis (LAM) is an uncommon disease reported to occur exclusively in women. We describe a phenotypically normal man with pulmonary LAM. fluorescence in situ hybridization (FISH) studies performed on the lung biopsy confirmed a normal XY genotype. Our patient also had stigmata of tuberous sclerosis complex (TSC), including facial angiofibromas and renal angiomyolipoma. Immunohistochemical stains of both LAM and renal angiomyolipoma showed positive immunoreactivity for hamartin (TSC1) and loss of immunoreactivity for tuberin (TSC2). loss of heterozygosity (LOH) for TSC2 was further demonstrated in the renal angiomyolipoma. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
6/32. hamartoma and renal transplant implications.A 19-year-old woman with tuberous sclerosis, bilateral renal hamartomas and polycystic kidneys required separate nephrectomies for severe hemorrhages 6 months apart. The case is presented, the diagnoses of the disease in relation to a negative family history are considered and the importance of early diagnosis in a potential transplant recipient and the use of leukocyte-free transufusions are discussed.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
7/32. Treatment of facial angiofibromas of tuberous sclerosis by shave excision and dermabrasion in a dark-skinned patient.tuberous sclerosis is an inherited disease expressed clinically by the triad of mental retardation, seizures, and tuberous lesions. Facial angiofibromas, a common manifestation of tuberous sclerosis, can cause considerable cosmetic disfigurement, emotional distress, obstruction of vision, and hemorrhage. Treatment by shave excision, as the first step to remove the larger nodules, followed by dermabrasion, to smooth and sculpt the final surface, has been recommended as the most effective form of therapy. However, this method of treatment raises the question of risk for development of hypopigmentation in susceptible patients. The authors present their treatment of angiofibromas with shave excision and dermabrasion in a dark-skinned patient.- - - - - - - - - - ranking = 1.2keywords = sclerosis (Clic here for more details about this article) |
8/32. Nine-year follow-up of a case of Grzybowski type multiple keratoacanthomas and failure to demonstrate human papillomavirus.We describe a patient with a 9-year history of generalized eruptive keratoacanthoma (KA) of the Grzybowski type whose multiple skin lesions showed steady progression, resulting in a sclerotic, mask-like facial expression and ectropion. Eleven tumour biopsies representing lesions of different stages and localizations (erupting and regressing KAs, biopsies from non-involved light-protected and light-exposed skin, dermatosclerosis and squamous cell carcinomas) were analysed for human papillomavirus (HPV) sequences using a polymerase chain reaction approach capable of detecting the majority of all presently known HPV genotypes. None of the biopsy specimens proved to be HPV-positive, although HPV was detected in weakly and heavily affected control specimens by the method applied. These findings suggest an HPV-independent aetiology of this rare type of multiple KA.- - - - - - - - - - ranking = 0.2keywords = sclerosis (Clic here for more details about this article) |
9/32. tuberous sclerosis: clinicopathologic features and review of the literature.INTRODUCTION: tuberous sclerosis is a hamartoneoplastic syndrome, which may involve multiple organ systems. Oral hard tissue manifestations of the syndrome have been described in the literature only as recently as 1955. patients who presented with clinical manifestations of tuberous sclerosis did not routinely undergo oral surveys to rule out 'lesions', and consequently data on 'lesions' in the maxillofacial complex is scant. Ten cases have been found in the English language literature, which describe maxillofacial 'lesions', which may be tumours, new growths, neoplasms or overgrowths occurring in patients diagnosed with tuberous sclerosis. PURPOSE: To review the literature for all maxillofacial lesions associated with tuberous sclerosis and to present an eleventh case of a patient with a maxillofacial lesion diagnosed as having tuberous sclerosis. RESULTS: Eleven cases were found with maxillofacial fibroblastic lesions associated with tuberous sclerosis. These lesions were all fibrous benign neoplasms found in the maxillofacial bony complex. CONCLUSIONS: Maxillofacial fibroblastic lesions in tuberous sclerosis have various histopathological presentations, some of which may be difficult to differentiate. Consequently, close microscopic examination of these lesions is necessary so that adequate surgical treatment is provided.- - - - - - - - - - ranking = 2.2keywords = sclerosis (Clic here for more details about this article) |
10/32. Segmental tuberous sclerosis presenting as unilateral facial angiofibromas.tuberous sclerosis (TSC) is an autosomal dominant inherited disorder with cutaneous lesions of ash leaf hypopigmented macules, shagreen patches, periungual fibromas, facial angiofibromas, forehead fibrous plaques, confetti hypopigmentation, and poliosis. Multiple facial angiofibromas are a pathognomonic feature of TSC. Unilateral facial angiofibromas, however, represent a rare variant of TSC, as only 6 cases are reported in the literature. We describe a case of a 52-year-old man who presented with unilateral facial angiofibromas and poliosis without other features of TSC.- - - - - - - - - - ranking = 1keywords = sclerosis (Clic here for more details about this article) |
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