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PubMed1988

Olfactory hamartomas in tuberous sclerosis.

Gross or microscopic glial hamartomas were found in the anterior olfactory lobe and olfactory germinal layer of three babies, two of them newborns, with tuberous sclerosis. In two cases microscopic hamartomas were seen in the anterior olfactory lobe, and in one of them there was a prominent nodular tumor of the olfactory tract and trigone. In addition, in both of these cases there were bilateral germinal layer tumors between striatum and septum, at the junction of the obliterated olfactory recess and the frontal horn of the lateral ventricle. Only microscopic hamartomas were present in the olfactory germinal layer of the third case. Typical subependymal germinal layer tumors were also present elsewhere in all cases; however, cortical tubers were recognized in only two of them. In all three patients, the clinical presentation and death were due to cardiac rhabdomyomas. The findings suggest that olfactory hamartomas might be relatively common in tuberous sclerosis. Involvement of olfactory structures is not surprising because the lesions seem to originate in the germinal layer, a region of the brain which is prominently involved in the disease.

Brain Neoplasms↗
PubMedDate not supplied

Tuberous sclerosis.

Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face. Children with tuberous sclerosis often present with infantile spasms. Eye manifestations include retinal phakomata which may be granular, white and calcified, or flat, translucent and noncalcified. Additional findings include angiofibromas of the lids, poliosis, retinal and iris depigmentation, and atypical colobomata. Various systemic and ocular signs of tuberous sclerosis may develop over the years. For purposes of both patient management and genetic counselling, diagnosis based on early signs is important. The ophthalmologist may play an important role in this regard, as the characteristic phakomata can often be detected within the first two years of life.

Adolescent↗
PubMed1993

Tuberous sclerosis: CT and MRI characteristics.

Tuberous sclerosis is a disease characterized by the presence of hamartomatous nodules in various organs, including the brain. Thirteen CT scans and four MR investigations were performed in 13 patients. CT is superior to MR in demonstrating the presence of subependymal nodules, thereby confirming or establishing the diagnosis of tuberous sclerosis. MR is superior to CT in demonstrating the peripheral lesions, which are characterized by a long T2-relaxation time. Differentiation between cortical tubers and subcortical lesions is not yet accurate.

Adolescent↗
PubMedDate not supplied

Tuberous sclerosis: CT findings and differential diagnosis.

The CT findings in a patient with tuberous sclerosis are described with special emphasis upon the differential diagnosis. The presence of multiple bilateral subependymal nodular nonenhancing hyperdense calcified lesions is relatively characteristic of tuberous sclerosis when combined with the appropriate clinical findings. In some cases, cerebral cortical heterotopias are visualized as hypodense nonenhancing subependymal lesions. The finding of a subependymal giant cell astrocytoma is sometimes seen in patients with tuberous sclerosis, and the finding of a subependymal hyperdense enhancing lesion is consistent with this diagnosis.

Calcinosis↗
PubMed1991

Factor XIIIa in the hamartomas of tuberous sclerosis.

Factor XIII is a blood coagulation factor which may also be produced in an intracellular location. The 'a' subunit of this factor has been found in a number of different cell types and has been shown to stimulate the proliferation of fibroblasts in vitro. We have examined cutaneous, central nervous system and renal lesions from persons with tuberous sclerosis using a standard immunohistochemical assay to see if factor XIIIa is expressed in these hamartomatous growths. We found factor XIIIa in most of the stromal cells composing the skin lesions of tuberous sclerosis as well as in cells of subependymal giant cell astrocytoma of the brain and the stromal cells in renal angiomyolipoma. Expression of factor XIIIa may be of significance in the formation of fibrous growths in tuberous sclerosis.

Adolescent↗
PubMed1995

Pulmonary tuberous sclerosis in a woman of child-bearing age with no mental retardation.

Tuberous sclerosis is a rare disease characterized by epilepsy, mental retardation and adenoma sebaceum. We describe the case of a 29-year-old woman with a clinical history of tuberous sclerosis who also had severe hypoxaemia, multifocal hamartoma-like lesions of various extrapulmonary organs, massive hypersplenism and coagulation defects. This case emphasizes the value of high resolution computed tomography (HRCT) in patients with pulmonary tuberous sclerosis.

Adult↗
PubMed2004

Expression of matrix metalloproteinases and their endogenous tissue inhibitors in skin lesions from patients with tuberous sclerosis.

BACKGROUND: Tuberous sclerosis complex lesions of the skin may be disfiguring to patients and can only be treated by laser or cosmetic surgery. Clarification of the molecular and structural changes involved in skin hamartomas may unravel targets for pharmacotherapy. OBJECTIVE: We investigated the expression of matrix metalloproteinase (MMP) and its tissue inhibitor (TIMP) in fibrous plaques, angiofibromas, and lesion-free skin specimens from patients with tuberous sclerosis complex. METHODS: Gene expression of MMPs and TIMP-1 was measured by reverse transcription polymerase chain reaction, gelatinase activity by gelatin zymography, and the content of collagenases and TIMPs by enzyme-linked immunosorbent assay. RESULTS: Compared with lesion-free specimens, hamartomas exhibited decreased levels of TIMPs and messenger RNA expression of TIMP-1, and increased content of MMP-1 and MMP-13 and activity of MMP-9, although gelatinase gene expression was diminished. Gene expression of MMP-15 and MMP-17 was not affected but was diminished for MMP-14. CONCLUSION: The significant variations of the above extracellular matrix molecules between lesion-free specimens and tuberous sclerosis complex hamartomas overall favors a collagenous protein-degrading microenvironment in affected skin, and argue in support of antiprotease treatment for disfiguring skin lesions.

Adult↗
PubMed2006

Cutaneous metastatic chordoma with concomitant tuberous sclerosis.

BACKGROUND: Chordomas are rare malignant tumors of notochord origin and are locally aggressive with a metastatic potential. Of noted interest, the skin rarely is seen as a metastatic site. METHODS AND OBSERVATIONS: We describe a 20-month-old infant whose primary presentation of a clivus-based chordoma was multiple asymptomatic cutaneous nodules. A skin biopsy showed large vacuolated cells embedded in a myxoid stroma. Immunohistochemical staining was positive for S-100, keratin, and epithelial membrane antigen markers consistent with malignant chordoma. Magnetic resonance imaging revealed a clivus-based chordoma with scattered metastases within the neuraxis and multiple visceral sites. Further examination also revealed a diagnosis of tuberous sclerosis. LIMITATIONS: An observed association between chordoma and tuberous sclerosis cannot be established firmly on the basis of a case report. CONCLUSIONS: This case illustrates a diagnostic challenge because of the unusual presentation of an already rare tumor. By reporting our case, we hope to assist in the recognition of this rare dermal condition and highlight the speculated coexistence of tuberous sclerosis with chordoma tumors.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2005

Antimicrobial activity of Curcuma zedoaria and Curcuma malabarica tubers.

The antimicrobial activity of extracts of Curcuma zedoaria and Curcuma malabarica tubers was tested against six bacterial and two fungal strains using the agar well diffusion and broth dilution methods. Petroleum ether, hexane, chloroform, acetone and ethanol extracts exhibited antibacterial as well as antifungal activity. Acetone and hexane extracts of both tubers showed comparable antimicrobial activity as indicated by minimum inhibitory concentration (MIC) values, but other extracts of Curcuma malabarica showed significantly lower activity than those of Curcuma zedoaria. The MIC values for different strains and extracts ranged from 0.01 to 0.15 mg/ml in Curcuma zedoaria and from 0.01 to 0.94 mg/ml in Curcuma malabarica. Staphylococcus aureus (Gram positive) was inhibited by Curcuma malabarica but not by Curcuma zedoaria. This study is the first report of the antimicrobial properties of Curcuma malabarica. The findings also support the use of Curcuma zedoaria tubers in traditional medicine for the treatment of bacterial and fungal infections.

Anti-Infective Agents↗
PubMed2005

[Tuberous sclerosis without mental impairment, diagnosed in adulthood].

INTRODUCTION: Tuberous sclerosis complex (TSC) is an autosomal dominant inherited phakomatosis, usually diagnosed in childhood and characterized by cutaneous and neurological tumors, the latter often leading to epilepsy and mental retardation. EXEGESIS: We report a case of TSC diagnosed in a 33-year-old man, without any known family history of phakomatosis, presenting with facial angiofibromas, hypomelanotic macules, a giant-cell astrocytoma and retinal phakomas without any mental impairment or epilepsy. CONCLUSION: TSC may occur in patients who do not have any family history of phakomatosis because de novo mutations are frequent. TSC may be diagnosed in adulthood since a high phenotypic variability is observed. Facial angiofibromas are highly suggestive of tuberous sclerosis complex. They should lead to brain imaging in search for astrocytoma, subependymal nodules and cortical tubers which number is directly correlated with the risk of seizures and the degree of mental impairment.

Adult↗
PubMed2006

Juvenile granulosa cell tumor of the ovary associated with tuberous sclerosis.

BACKGROUND: Tuberous sclerosis is a neurocutaneous syndrome characterized by benign tumors that can affect many organs. Juvenile granulosa cell tumors of the ovary are rare neoplasms that typically occur in the first three decades of life and have excellent prognosis for early-staged disease. CASE REPORT: We report the first case of an 8-year-old white female with tuberous sclerosis and juvenile granulosa cell tumor of the ovary. She presented with a 20 x 22 cm pelvic mass and received a right salpingo-oophorectomy. Three months later, she recurred and underwent a left salpingo-oophorectomy, lymphadenectomy, and omentectomy followed by four cycles of Bleomycin, Etoposide, and Cisplatin chemotherapy. She is currently free of disease 8 years after her recurrence. CONCLUSION: Treatment options and a review of the literature pertaining to juvenile ovarian granulosa cell tumors and tuberous sclerosis are discussed.

Child↗
PubMed1995

Long-term observation of retinal lesions in tuberous sclerosis.

PURPOSE: To obtain long-term photographic follow-up of retinal astrocytic hamartomas in patients with tuberous sclerosis to learn about their stability or possible growth patterns. METHODS: Sixteen patients with a confirmed diagnosis of tuberous sclerosis and in whom retinal astrocytic hamartomas were photographed before 1986 at the Mayo Clinic underwent a complete ophthalmic examination, and fundus photographs were taken. The new photographs were compared with previous photographs, and changes in size, character, or number of retinal hamartomas were determined. The minimum follow-up period was five years. RESULTS: A total of 37 astrocytic hamartomas were found. Follow-up ranged from almost six years to more than 34 years, with an average of 16 years. Hamartomas in three patients showed progressive or new calcification. In a fourth patient a retinal hamartoma appeared to originate from a site that had been previously photographically documented to be normal. The remaining hamartomas appeared unchanged over the follow-up period. CONCLUSIONS: Although most retinal lesions in tuberous sclerosis remain stable, some become calcified over time. Additionally, new lesions may develop from previously normal-appearing retina.

Adolescent↗
PubMed2003

[Tuberous sclerosis and cardiac tumor (case report)].

We report the case of a cardiac tumor, which is found in a systematic cardiac examination of an 11 year old girl who had a tuberous sclerosis. The interest of this observation is to show the importance of a general examination, especially cardiac, within this pathology. Tuberous sclerosis is an hereditary disease, associated with rhabdomyomas in 50% of cases or more. Cardiac rhabdomyomas are frequently multiple and detected in utero in some cases. Conversely, 60% of these tumors are seen in a context of tuberous sclerosis. Rhabdomyomas are the most common cardiac tumors of infants and children, the large majority occurring in patients younger than one year and are diagnosed more and more in foetal echocardiography.

Child↗
PubMed1986

Giant cell astrocytoma in tuberous sclerosis: computed tomographic findings.

Clinical presentation and computed tomography (CT) findings in four tuberous sclerosis patients with large ventricular tumours situated near the foramina of Monro, and causing obstructive hydrocephalus are described. These tumours (so-called giant cell astrocytomas) demonstrated uniform post-contrast enhancement. This finding, along with their location, distinguished them from the much commoner cortical and subependymal tubers of tuberous sclerosis.

Adult↗
PubMed1980

The cystic renal lesion in tuberous sclerosis.

A characteristic cystic renal lesion is described in three infants with tuberous sclerosis. Large cystic kidneys were present at birth in one child. The other two patients were discovered to have cystic kidneys and hypertension at 3 months of age. Development delay and seizures were ultimately present in two infants; typical cutaneous lesions of tuberous sclerosis developed in only one child. The roentgenographic appearance of the kidneys in the two older children was similar to that of adult-type polycystic kidney disease. Cysts were lined by a distinctive, hyperplastic epithelium in each patient. The diagnosis of tuberous sclerosis may be determined by renal biopsy in infants presenting with cystic kidneys.

Diagnosis, Differential↗
PubMed1989

Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis.

Renal angiomyolipomas are found in more than half of the patients with tuberous sclerosis. We report on 3 patients with tuberous sclerosis and pathologically aggressive renal angiomyolipoma with retroperitoneal lymph node involvement and/or renal cell carcinoma. All patients have had a benign course. The literature is reviewed and supports the benign nature of this seemingly aggressive disorder. An approach to the evaluation and treatment of a child with tuberous sclerosis and renal angiomyolipoma is presented.

Adolescent↗
PubMed1984

Renal tumors associated with tuberous sclerosis: the case for aggressive surgical management.

Tuberous sclerosis is associated commonly with renal angiomyolipoma. However, the radiographic differentiation of angiomyolipoma and renal carcinoma can be difficult, and the natural history of angiomyolipoma may be associated with serious complications. We present a case of bilateral renal cell carcinoma associated with tuberous sclerosis. Aggressive but conserving renal surgery should be considered in patients with tuberous sclerosis and enlarging renal masses.

Adult↗
PubMed2000

MRI spectrum of cortical malformations in tuberous sclerosis complex.

The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.

Cell Differentiation↗