Figure - available via license: Creative Commons Attribution 3.0 Unported
Content may be subject to copyright.
Source publication
Objective:
Tuberous sclerosis complex is an autosomal dominant neurocutaneous disease that presents with dermatological, neurological, cardiac, renal and ocular symptoms. We described the variable clinical manifestations, neuroimaging findings, Age and sex distribution of tuberous sclerosis in a group of 81 patients referred to our clinic.
Materi...
Citations
... Another study demonstrated cortical tubers in 13.3-30% cases. 17 Other uncommon manifestations included cardiac rhabdomyomas and renal angiomyolipoma in 1 (16.67%) case and retinal hamartomas were present in another (16.67%). ...
... 15 Retinal hamartomas have been reported in 1.2-6.7% of patients in other studies. 14,17 All four cases of ectodermal dysplasia had sparse body and scalp hair. Out of which, 3 (75%) cases presented with hypohidrosis and 1 (25%) with anhidrosis. ...
p class="abstract"> Background: Genetic diseases causing abnormalities in structure and / or function of skin are termed as genodermatoses. As there is paucity of epidemiological data of genodermatoses from our country, this study was conducted to determine the latest clinical and epidemiological trends of pediatric genodermatoses.
Methods: A hospital-based observational study consisting of 35 clinically diagnosed pediatric genodermatoses cases, who reported to the Dermatology OPD, Dr. D.Y. Patil Medical College, Pune, was conducted for a period of two years. Socio-demographic and clinical information was collected and clinical examination was performed on all patients to record any cutaneous / extra-cutaneous abnormality. The participants were then subjected to necessary investigations to elucidate the additional disease components. The data was evaluated using appropriate statistical methods.
Results: Out of 4032 pediatric patients , 35 were found to have genodermatoses. Majority (57.14%) cases belonged to the first decade of life. There was no sexual predilection (male:female - 0.94:1). The commonest genodermatoses detected were neurofibromatosis and tuberous sclerosis (17.14% each). Most common mode of inheritance seen was autosomal dominant (57.14%). Family history and consanguinity were recorded in 45.71% and 22.86% cases respectively. Café-au-lait macules seen in 22.86% cases and ocular anomalies recorded in 34.38% cases were the commonest cutaneous and extracutaneous manifestations, respectively.
Conclusions: Genodermatoses are rare skin disorders with systemic involvement at times, resulting in poorer prognosis. This necessitates more focus on this speciality.</p
... 24 Los hallazgos de este estudio se compararon con los de siete estudios observacionales internacionales, uno en España, tres en India, uno en Estados Unidos, uno en Japón y el último en Irán. 25,35,40,43,[44][45][46] Todos estos estudios revelaron que las manifestaciones dermatológicas fueron las más comunes. Sin embargo, Fernández-Guarino y colaboradores, Ghosh y su grupo y Rama Rao y colaboradores reportaron que los angiofibromas fueron la lesión más frecuente, mientras que todos los demás estudios compartieron nuestros hallazgos. ...
ANTECEDENTES: La esclerosis tuberosa es una enfermedad poco común cuyas principales manifestaciones son dermatológicas y neurológicas. En nuestra región, no existen estudios descriptivos de esclerosis tuberosa en un centro de referencia dermatológico que se comparen con lo reportado internacionalmente.
OBJETIVO: Determinar las características clínicas y epidemiológicas en pacientes
con diagnóstico de esclerosis tuberosa y comparar nuestros hallazgos con los de la
bibliografía mundial.
MATERIAL Y MÉTODO: Estudio retrospectivo, descriptivo y observacional de los pacientes que cumplieran criterios diagnósticos de esclerosis tuberosa, que acudieron a la consulta de Dermatología del Hospital Universitario Dr. José Eleuterio González entre
abril de 2012 y noviembre de 2017. Se recabaron las características epidemiológicas,
motivo de consulta, tipo de lesión, topografía y comorbilidades.
RESULTADOS: Se identificaron 11 pacientes. La lesiones dermatológicas fueron en la
mayoría de los casos la primera manifestación clínica. Las máculas hipomelanóticas
aparecieron en el 100% de los casos; la presentación más frecuente fue en forma de
hoja de fresno (63.6%). La lesiones cutáneas menos comunes fueron los fibromas
ungueales (18.2%). Las crisis convulsivas se refirieron en 36.4% y fue la primera
manifestación neurológica.
CONCLUSIONES: Las máculas hipomelanóticas, por su alta prevalencia, tienen valor
diagnóstico importante; sin embargo, no son específicas. Estas lesiones, junto con los
angiofibromas, fueron los hallazgos más comunes. Los hallazgos de nuestro estudio
son concordantes con los reportados en la bibliografía internacional.
PALABRAS CLAVE: Esclerosis tuberosa; angiofibroma; hamartoma.
... Tuberous sclerosis complex (TSC) is predominantly a neuro-cutaneous disease characterized by hamartoma formation in multiple organs resulting from defective cellular proliferation and differentiation. [1][2][3] It presents with varied cutaneous and systemic features. Cutaneous manifestations include hypomelanotic macules, facial angiofibromas, forehead plaques, shagreen patches, periungual and gingival fibromas, [2] café-au-lait macules, and skin tags. ...
... [1][2][3] It presents with varied cutaneous and systemic features. Cutaneous manifestations include hypomelanotic macules, facial angiofibromas, forehead plaques, shagreen patches, periungual and gingival fibromas, [2] café-au-lait macules, and skin tags. Systemic features include hamartomas in various organs such as cortical tubers, subependymal giant cell astrocytomas, calcified nodules, renal cysts, renal angiomyolipomas, lung cysts, lymphangioleiomyomas, retinal hamartomas, cardiac rhabdomyomas, and nonrenal hamartomas. ...
... Systemic features include hamartomas in various organs such as cortical tubers, subependymal giant cell astrocytomas, calcified nodules, renal cysts, renal angiomyolipomas, lung cysts, lymphangioleiomyomas, retinal hamartomas, cardiac rhabdomyomas, and nonrenal hamartomas. [2] Initially Virchow and von Recklinghausen identified scleromas and myomata in the brain and heart. [4] Subsequently fibrovascular papules on the face were described by Rayer. ...
Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended. A im: To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients.
The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done.
Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy.
Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients.
Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.
... Tuberous sclerosis complex (TSC) is a multisystem disorder associated with hamartomas formation in the brain, skin, heart, and other viscera [1] [2], with Epilepsy as the most common presenting symptom [3]. The incidence of TSC is estimated to be 1 in 6000 to 1 in 10,000 live birth [4]. ...
... Informed consent was obtained from all study participants prior to their inclusion in the study. Clinical criteria for a TSC diagnosis of Patients was determined by clinicians which has been previously published [3]. ...
... 57 (70.37%) patients had no familial history of Tuberous Sclerosis, including those cases with only one of symptoms of TSC, and 24 (29.63%) with at least one affected family member ( Table 1). All clinical aspects of studied patients have been previously announced [3]. ...
ABSTRACT
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by formation of benign tumors called hamartomas. Although the TSC is diagnosed based on clinical findings but approximately 85% of individuals who meet diagnostic criteria for TSC a mutation can be identified in TSC2 (69%) and TSC1 (31%). A review of mutation type in TSC1 & TSC2 genes reveals that deletion/duplication assay could be a good screening strategy as a first step in TSC molecular diagnosis. All 41 exons and 5’ untranslated region of TSC2 gene in addition to adjacent PKD1 gene were screened for deletion/duplication in 81 patients DNA samples using multiplex ligation dependent probe amplification (MLPA) method. Deletion/duplication was found in 29 (35.8%) patients, including deletions in 26 (32.0%) patients and duplication in 3 (3.8%). Genotype/phenotype analysis, showed five patients with renal function impairment who have large deletions including PKD gene area. Approximately 65% of cases were sporadic, while the remaining have familial positive history. Deletions/duplications of TSC2 gene were seen in 35.8% of patients with TSC. So it could be concluded that MLPA is a useful testing strategy for molecular screening in sporadic forms of TSC patients. MLPA increased the detection of TSC mutations. MLPA is less expensive, quicker and more precise than direct sequencing and southern blot in the characterization of TSC deletions. This technique is recommended as a standard part of TSC clinical molecular diagnosis.
KEYWORDS
Tuberose Sclerosis Complex, TSC2, MLPA, Iran
Tuberous sclerosis complex (TSC) is a complex disease with many different clinical manifestations. Despite the common opinion that TSC is a rare condition, with a mean incidence of 1/6000 live births and a prevalence of 1/20,000, it is increasingly evident that in reality this is not true. Its clinical sequelae span a range of multiple organ systems, in particular the central nervous system, kidneys, skin and lungs. The management of TSC patients is heavily burdensome in terms of time and healthcare costs both for the families and for the healthcare system. Management options include conservative approaches, surgery, pharmacotherapy with mammalian target of rapamycin inhibitors and recently proposed options such as therapy with anti-EGFR antibody and ultrasound-guided percutaneous microwaves. So far, however, no systematically accepted strategy has been found that is both clinically and economically efficient. Thus, decisions are tailored to patients’ characteristics, resource availability and clinical and technical expertise of each single center. This paper reviews the pathophysiology and the clinical (diagnostic-therapeutic) management of TSC.
This 3 volume set offers a comprehensive compilation which presents detailed information about ophthalmic (retinal, vitreous and macular) diseases. Key features of this set include:
- Emphasis on practical features of clinical diagnosis
- Concise and didactic presentation of key manifestations of diseases designed for rapid reference and target recall
- A vast selection of illustrations to sharpen clinical problem-solving skills
- Step by step treatment approaches to enhance the reader’s ability to handle medical cases
- Citations or relevant research articles in each chapter for further reading
The third volume of this set covers eye infections (bacterial and viral), inflammatory disorders and neoplasms. Written by a group of retina specialists, this book is an excellent resource for knowledge about retinal disorders. The streamlined format and evidence based medicine presented in the volume make this book the perfect reference for medical students, residents, general ophthalmologists and retina specialists.
Available at: http://ebooks.benthamscience.com/book/9781681084152/
Purpose:
The effects of epilepsy and seizures on cardiac functions have been documented, and this association has drawn attention in recent years. The aim of this study was to investigate left ventricle (LV) diastolic function by tissue Doppler imaging (TDI) in patients with newly diagnosed and untreated primary generalized epilepsy (PGE).
Method:
Thirty newly diagnosed and untreated PGE patients (14 females, mean age 27.60±9.64 years) and 30 healthy age- and gender-matched control subjects (14 females, mean age 29.47±6.89 years) were included in the study. The LV functions of the study cohort were evaluated using conventional echocardiography and TDI.
Results:
There were no significant differences found between the two groups regarding the left atrium diameter, left atrium volume index, interventricular septum and posterior wall thickness, LV end diastolic diameter, and LV end diastolic volume (p>0.05 for each parameter). PGE patients exhibited a higher LV end systolic diameter and LV end systolic volume compared to the controls (p<0.001 for each parameter). Thus, the fractional shortening and ejection fraction were lower in the PGE patients (p<0.001 for each parameter). The E to average e' ratio, the most important noninvasive indicator of LV filling pressure, was significantly higher in patients with PGE (8.31±2.78 vs. 6.95±1.26, p=0.018).
Conclusion:
The present study reports the systolic and diastolic dysfunction of LV in newly diagnosed PGE patients compared to control subjects. Taken together, the screening of epileptic patients using conventional echocardiography and TDI may be useful to evaluate the effects of epilepsy on cardiac functions.
