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PubMed1987

Nevoid basal-cell carcinoma syndrome.

The nevoid basal-cell carcinoma syndrome is characterized by major manifestations, such as multiple basal-cell carcinomata, cysts of the jaws, and skeletal--specifically, rib--abnormalities. Findings in 53 patients and a review of the literature document both major and lesser-known manifestations of the disorder. The odontogenic keratocyst, which usually appears during adolescence, has a marked tendency to recur. In addition to the skin tumors, milia, epidermoid cysts, chalazia, comedones, and palmar and plantar pits are frequent. The skin tumors, originally thought to be independent of sun exposure, are more common in sun-exposed areas and are far less frequent and occur at a much later age in blacks than in whites. There is some evidence that radiation of the skin promotes the appearance of skin cancers in this disorder. Unilateral linear nevoid basal-cell carcinomas with comedones may represent postzygotic somatic mutation. A proclivity to other forms of neoplasia exists. Patients with this syndrome have had medulloblastoma, meningioma, ovarian fibroma, ovarian fibrosarcoma, fibrosarcoma of the jaws, cardiac fibroma, fetal rhabdomyoma, and lymphatic or chylous cysts of the mesentery. In addition to the usual modalities of treatment, topical immunotherapy and topical 5-fluorouracil have been used with success. Oral synthetic retinoids, such as 13-cis-retinoic acid, have been used to prevent new lesions from appearing and to arrest the growth of older lesions by inducing differentiation. The independent observations of increased prostaglandin levels associated both with odontogenic keratocyst expansion and aggression of basal cell cancers merit further investigation both as a fundamental cellular mechanism and as a possible basis for treatment (e.g., with antiprostaglandins). The key to pre- and early postnatal diagnosis of the disorder--as well as to an understanding of the basic abnormality--lies in molecular genetics. Prime attention should be given to finding the site of the gene through the use of DNA and other markers.

Adult↗
PubMed2003

Alpha-inhibin immunoreactivity in soft-tissue neoplasia.

Antibodies directed against alpha-inhibin have been previously reported as staining both sex cord-stromal neoplasms as well as adrenal cortical tumors. This relatively restricted immunoreactivity pattern is useful in the assessment of retroperitoneal masses, especially in a setting of limited tissue (e.g., needle biopsy). However, no study to date has evaluated alpha-inhibin immunoreactivity in soft-tissue neoplasms, which frequently enter the differential diagnosis of retroperitoneal masses. We investigate the incidence of alpha-inhibin staining in a variety of soft-tissue neoplasms by using formalin-fixed, paraffin-embedded tissue sections from 282 previously classified soft-tissue neoplasms with anti-alpha-inhibin (Serotec, 1:75). A modified avidin-biotin complex method was used after heat-induced epitope retrieval. Cytoplasmic granular staining was considered positive. Of the 282 tumors studied, a total of 8 (2.8%) demonstrated positive staining with anti-alpha-inhibin antibody. These included 4 of 25 liposarcomas (16%), 2 of 18 angiosarcomas (11%), 1 of 48 lipomas (2.1%), and 1 of 1 rhabdomyoma (100%). Negative staining was noted among hemangiomas (0/28), schwannomas (0/32), leiomyomas (0/16), fibrosarcomas (0/2), fibromas (0/11), dermatofibromas (0/9), neurofibromas (0/6), synovial sarcomas (0/15), rhabdomyosarcomas (0/10), Triton tumors (0/2), and malignant fibrous histiocytomas (0/59). We conclude that rare soft-tissue tumors, especially those exhibiting either lipomatous or vascular differentiation, demonstrate alpha-inhibin immunoreactivity. These findings re-emphasize the need for a well-construed antibody panel when immunohistochemical methods are employed in the evaluation of retroperitoneal neoplasms. However, the rarity of alpha-inhibin expression by soft-tissue neoplasms provides further support for its overall specificity as a marker of adrenal cortical differentiation in the biopsy evaluation of a retroperitoneal mass.

Humans↗
PubMed2006

Sudden unexpected death in infancy and childhood due to undiagnosed neoplasia: an autopsy study.

Sudden unexpected death due to clinically undiagnosed neoplasia in infancy and childhood (SUDNIC) is a rare phenomenon, with only small numbers of cases reported in the literature. In the majority of instances, the tumors involve critical structures within the heart or central nervous system and include gliomas, medulloblastomas, rhabdomyomas, and neoplasms of stromal elements. A 20-year retrospective review of autopsy records from the Hospital for Sick Children, Toronto, was performed (1984-2003, n = 4926), and 7 cases of SUDNIC were identified (0.14%). In addition, 1 case was obtained from the files of the Children's and Women's Health Centre of British Columbia, Vancouver. Diagnoses included 2 cases of acute leukemia (1 myelogenous, 1 lymphoblastic), 2 cases of mediastinal lymphoblastic lymphoma (pre-T cell type), 1 papillary fibroelastoma of the mitral valve prolapsing into and totally occluding the left anterior descending coronary artery, 1 medulloblastoma, 1 Wilms tumor associated with fatal intraperitoneal hemorrhage, and 1 widely disseminated gastric carcinoma. These cases demonstrate that infants and children may have minimal or no symptoms in the presence of significant disease and highlight the need for a thorough autopsy examination in cases of sudden unexpected death in infancy and childhood.

Adolescent↗
PubMed2006

Cutaneous mesenchymal hamartoma with mixed myogenous differentiation.

A 3-month-old infant girl presented with a polypoid lesion in the perianal region. No changes in this lesion had been noted since birth. Microscopic examination of the excised specimen showed a mixture of mesenchymal elements, dominated by haphazard thin fascicles of skeletal muscle. Collagen and vascular changes were also apparent. Immunohistochemistry showed positive staining for muscle-specific actin and desmin in the fascicular components of the lesion, and smooth muscle actin, desmin, and h-caldesmon positivity in a haphazard collection of muscle fibers in the deep dermis and anal submucosa. Numerous Verhoeff-van Gieson positive elastic fibers were also noted. Hamartomas containing skeletal muscle have rarely been reported outside of the head and neck region. They must be distinguished from a variety of other tumors, including juvenile rhabdomyoma, benign Triton tumor, and rhabdomyosarcoma.

Cell Differentiation↗
PubMed1989

An autopsy case of tuberous sclerosis associated with primary pericardial mesothelioma.

Tuberous sclerosis (Bourneville-Pringle phacomatosis) has been known to be associated with cardiac rhabdomyoma, but apparently never previously with primary pericardial mesothelioma. We present an autopsy case of this condition in a 59-year-old man, who had been diagnosed as having tuberous sclerosis in view of the presence of facial sebaceous adenoma, mental retardation, intracranial calcification, cerebral ventricular dilatation and renal tumor. During the clinical course, characterized by heart failure due to cardiac tamponade, cardiac sarcoma was diagnosed by imaging techniques. Autopsy revealed biphasic-type primary pericardial mesothelioma. As to the tuberous sclerosis, atypical giant cells in the tubers of the cerebral cortex and the lateral ventricular wall were found, which were considered to be derived from neurons rather than glial cells on the basis of staining with Bodian, Holzer, and antibodies against NSE, GFA and S-100 protein. In old tubers protruding into the lateral ventricles, fibrous glias were present with dense calcospherite deposits, coinciding with the CT findings. The renal tumors were angiomyolipomas, which were present bilaterally and showed partially infiltrative growth, but seemed to have a benign nature because of the lack of metastasis and atypism of the leiomyocytes.

Autopsy↗
PubMed1990

Tuberous sclerosis and infantile spasms.

The short- and long-term outcome and special problems of 24 children with infantile spasms and tuberous sclerosis (TS) was studied. The diagnosis of TS is frequently missed: white spots on the skin have to be carefully looked for. In the present study, these spots were always found, and calcifications or hypodense areas of the brain were revealed by CT scans before one year of age. In addition to epilepsy, manifestations of TS included: giant cell astrocytoma, iridic heterotopia, cardiac rhabdomyoma, brain cysts, polycystic kidneys with severe arterial hypertension, retinal phakomas, angiofibroma and white spots on the skin. Long-term outcome was poor. None of the children had normal intelligence and all but one had epilepsy, which was often intractable. Behavioural problems were common. The prognosis, in terms of later intelligence, epilepsy and behavioural problems, was worse than in those with 'idiopathic' infantile spasms or in those with simultaneous neurological disorders. An early diagnosis of TS in patients with infantile spasms clarifies the prognosis and avoids some of the hazards of ACTH therapy. TS children have a high relapse rate after ACTH therapy, so prolonged courses may be indicated.

Adolescent↗
PubMed1991

Efficacy and safety of oral sotalol in early infancy.

Sotalol, a nonselective beta blocking agent with additional Class III activity has been shown to be extremely effective in the treatment of supraventricular tachycardias in adults and children. Little information is available on its use in infants. From August, 1985 to April, 1990, 18 infants, 2 months of age or less, were treated with oral sotalol for supraventricular arrhythmias. Their age ranged from a few hours to 2 months, mean 5 weeks, at the start of treatment. Weights were between 2.58-5 kg, mean 3.9 kg and dosage 2-4 mg/kg/24 hrs given in two equal doses, 12 hourly. Sixteen infants had structurally normal hearts, one had multiple cardiac rhabdomyomas, and one was postoperative Mustard procedure for transposition of the great arteries. Thirteen of 18 infants had reentrant forms of supraventricular tachycardia, six of these had overt preexcitation. Two infants had chaotic atrial tachycardia, two atrial flutter, and one with ectopic atrial tachycardia. Previous antiarrhythmic therapy had been unsuccessful in 12 patients. All infants, except one with chaotic atrial tachycardia, were successfully controlled with sotalol. Ten infants discontinued therapy between the ages of 7 and 18 months as it was felt to be no longer necessary. Mean duration of treatment was 12.8 months. Three had recurrences of their arrhythmia and were again successfully controlled by sotalol. Mild sinus bradycardia occurred in all infants. No other side effects were noted. Sotalol is an effective, safe drug for the treatment of supraventricular tachycardias in early infancy.

Digoxin↗
PubMed1991

Renal involvement in tuberous sclerosis.

TSC in the kidney is expressed principally as renal cysts and angiomyolipomas. Both abnormalities may occur separately or together, and both are commonly multiple and bilateral. Cystic disease is sometimes so severe as to be confused with polycystic kidney disease, although the histopathologic findings are practically diagnostic of TSC. Severe cystic disease causes renal insufficiency; large angiomyolipomas predispose to life-threatening hemorrhage. Renal malignancies have been reported in what appears to be a significant number of patients. We hypothesize that the renal abnormalities result from cell hyperplasia and hypertrophy, much like the other abnormalities of tuberous sclerosis, such as cerebral tubers and cardiac rhabdomyomas. The renal abnormalities can therefore be regarded as an expression of the TSC gene, and their recognition as such carries importance for treatment and counseling.

Carcinoma, Renal Cell↗
PubMed1997

Congenital heart defects: natural course and in utero development.

BACKGROUND: Most congenital heart defects (CHDs) are diagnosed on targeted prenatal transvaginal (TVS) or transabdominal (TAS) ultrasonography during the early second trimester or at midgestation. Nevertheless, delayed diagnosis in some cardiac malformations still remains despite detailed echocardiographic examination. The present study was conducted to evaluate the evolution of fetal cardiac anomalies and assess their development in utero. METHODS AND RESULTS: We retrospectively reviewed 22,050 pregnant women who were divided into two groups: 6924 who had initial TVSs at 13 to 16 weeks' gestation, followed by TASs at 20 to 22 weeks, and 15,126 who had initial TASs at 20 to 22 weeks. Both groups were subsequently examined in their third trimester. All newborns were examined by certified pediatricians. CHD was diagnosed in 168 babies: 66 in group A and 102 in group B. In group A, 42 malformations (64%) were detected at the first TVS examination, and 11 (17%) were found during the subsequent TAS. Three additional anomalies (4%) were found during the third trimester, and 10 malformations (15%) were detected postnatally. In group B, 80 malformations (78%) were detected in the initial examination at midtrimester, and an additional 7 (7%) were found in the third trimester, whereas 15 (15%) were diagnosed postnatally. The 10 anomalies (group A, n=3; group B, n=7) that were detected only during the third trimester comprised aortic stenosis (n=2), cardiac rhabdomyoma (n=2), subaortic stenosis (n=1), tetralogy of Fallot (n= 1), aortic coarctation (n=1), sealed foramen ovale (n=1), ventricular septal defects (n=1), and hypertrophic cardiomyopathy (n=1). CONCLUSIONS: Although most fetal cardiac anomalies are detectable early in gestation, some may evolve in utero at different stages of pregnancy.

Adolescent↗
PubMed1998

Hamartoma of the larynx: a critical review of the literature.

Hamartoma of the larynx is an extremely rare lesion, and the number of well-documented and acceptable cases is limited. The world literature is critically reviewed in order to develop a more accurate clinicopathological profile of this tumorlike malformation, which has to be differentiated from choristoma, teratoma, and rhabdomyoma, among others. Management consists of local excision, and the prognosis is good.

Adult↗
PubMed1996

Renal manifestations of tuberous sclerosis complex.

Patients with tuberous sclerosis complex (TSC) are at increased risk of renal disease, predominantly angiomyolipomas and renal cysts. We retrospectively reviewed clinical data of 71 patients diagnosed with TSC. Progression of renal lesions was noted. TSC patients with renal lesions were compared with TSC patients without renal disease. Fifteen of 38 patients had renal abnormalities by imaging at presentation. Six of 9 with initially normal kidneys subsequently developed new lesions. Although not of statistical significance, there was a trend toward increased retinal hamartomas, cardiac rhabdomyomas, and skin lesions in those patients who also had renal abnormalities. Renal disease should be considered and sought in all patients with TSC, both at initial presentation and subsequently, since renal disease is a very significant cause of morbidity and mortality.

Adolescent↗
PubMed1998

Tuberous sclerosis complex and neonatal seizures.

Tuberous sclerosis complex is a multisystemic neurocutaneous disorder, manifesting variably during infancy and childhood that remains poorly described in neonates. When described in this population, tuberous sclerosis complex is most commonly associated with cardiac rhabdomyomas and brain tumors, but is rarely mentioned as an etiology for neonatal seizures. We report two children with tuberous sclerosis presenting for neonatal seizures. Neuroimaging findings of neonatal tuberous sclerosis complex are discussed. Given the absence of many of the traditional stigmata of tuberous sclerosis complex in the neonate, seizures should be considered an important presenting feature of this disorder in this particular age group.

Brain↗
PubMed1989

Cardiac masses: assessment by MR imaging.

The purpose of this study was to assess the role of MR imaging for evaluating suspected cardiac tumors or paracardiac masses involving the heart. Sixty-one patients with clinical or radiologic evidence of cardiac masses were imaged with ECG-gated MR at 1.5 T (22 patients) or 0.15 T (39 patients). Fifty-one patients had echocardiography previously. Among the tissue diagnoses were myxoma (six); fibroma, rhabdomyoma, plasma cell granuloma, lipomatous hypertrophy of the atrial septum, mesothelioma, and thymoma (two each); and leiomyosarcoma, lymphoma, metastatic carcinoid, melanoma, malignant fibrous histiocytoma, hemangiopericytoma, and lung spindle cell sarcoma (one each). MR imaging demonstrated masses in 50 patients (82%); they were centered in the heart in 32, pericardial in nine, and juxtacardiac in nine. MR imaging provided diagnostic information that affected clinical management or surgical planning in 53 patients (87%), including 11 (18%) in whom cardiac mass was excluded by MR. The ability to provide a global view of cardiac anatomy and other unique capabilities of MR imaging give the procedure an important role in the diagnosis and preoperative assessment of cardiac masses.

Adolescent↗
PubMed2005

Ultrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis.

The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasound raised the possibility of TS based on the detection of multiple cardiac rhabdomyomas. Fetal MRI, subsequently performed, showed the presence of cortical tubers and subependymal nodules establishing the diagnosis. Fetal MRI in the appropriate clinical setting can be potentially invaluable and can have important prognostic implications.

Adult↗
PubMed2000

Transformation of monocytoid B-cell lymphoma to large cell lymphoma associated with crystal-storing histiocytes.

We report a case of crystal-storing histiocytosis associated with large cell lymphoma in a patient with a history of monocytoid B-cell lymphoma 10 years previously. The cervical lymph node biopsy showed a diffuse proliferation of large lymphocytes with vesicular nuclear chromatin and distinct nucleoli. These lymphocytes were associated with numerous immunoglobulin lambda light-chain crystal-storing histiocytes, which morphologically resembled rhabdomyoblasts. Occasional lymphoid cells also showed large immunoglobulin crystals. This case establishes the association of crystal-storing histiocytes with lymphomas of mucosa-associated lymphoid tissue and emphasizes the need for immunophenotyping to distinguish these unusual cases from other tumors, particularly adult rhabdomyomas.

Aged↗
PubMed1994

Transvaginal echocardiographic examination of the fetal heart between 13 and 15 weeks' gestation in a low-risk population.

The object of our investigation was to evaluate the potential of transvaginal echocardiography for a complete anatomic study of the fetal heart, and for detection of congenital heart diseases in low-risk pregnant patients between 13 and 15 weeks' gestation. High-frequency (6.5 MHz and 7.5 MHz) transvaginal probes were employed for fetal echocardiographic assessment. Six hundred and sixty patients considered at low risk for congenital heart disease underwent in utero ultrasonographic studies, neonatal records, postnatal imaging studies, and pathologic examination. The four-chamber view was obtained in 100% of the fetuses, while the extended fetal heart examination was completed in 98%. Six fetuses with cardiac defects were diagnosed during the study: three had major heart defects (aortic atresia, tetralogy of Fallot, and persistent truncus arteriosus), all detected at the early transvaginal scan; three cardiac anomalies escaped our early diagnosis; two fetuses had a minor ventricular septal defect diagnosed only postnatally; and one had multiple cardiac rhabdomyoma diagnosed in the third trimester. Our results demonstrate that between 13 and 15 weeks' gestation transvaginal echocardiographic assessment of the fetal heart in the low-risk population is feasible. Moreover, some severe anomalies may be detected at such an early gestational age.

Echocardiography↗
PubMed1999

[Atrial fibrillation and the Wolff-Parkinson_White syndrome in a 68-year-old patient with tuberous sclerosis].

Tuberous sclerosis is an autosomal-dominant disease with involvement of several organs, the heart included. The cardiac anomaly most frequently found is the rhabdomyoma association. However, WPW association has also been encountered more common than usual. In the majority of the published related-series, infant or adolescent patients are described. We report the case of a 68-year-old patient with tuberous sclerosis whose first cardiac manifestation was a pre-excited atrial fibrillation. This association is reviewed and the consideration of accessory pathways is highlighted as the first mechanism to take into account when arrhythmias are present in these patients even in adult age.

Aged↗