scholarly journals Histological Patterns of Skin Lesions in Tuberous Sclerosis Complex: A Panorama

2021 ◽  
Vol 8 (3) ◽  
pp. 236-252
Author(s):  
Marine Cascarino ◽  
Stéphanie Leclerc-Mercier
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorders ◽  
Dental Enamel ◽  
Skin Lesions ◽  
Consensus Conference ◽  
Pediatric Hospital ◽  
Cutaneous Lesions ◽  
Skin Biopsies ◽  
Minor Criteria

Tuberous Sclerosis Complex (TSC) is a multisystem genetic disease characterized by cutaneous and extracutaneous hamartomas. The diagnosis is based on the association of major and minor criteria, defined by a consensus conference updated in 2012. The clinical examination of the skin is crucial because seven diagnostic criteria are dermatological: four major (hypomelanotic macules, angiofibroma or fibrous cephalic plaques, ungual fibromas, shagreen patches) and three minor criteria (confetti skin lesions, dental enamel pits, intraoral fibromas). Skin biopsy is commonly performed to assert the diagnosis of TSC when the clinical aspect is atypical. Histopathology of TSC cutaneous lesions have been poorly reported until now. In this article, we review the histologic features described in the literature and share our experience of TSC skin biopsies in our pediatric hospital specialized in genetic disorders. Both hypomelanotic lesions and cutaneous hamartomas (angiofibroma/fibrous cephalic plaques, ungual fibromas, shagreen patches) are discussed, including the recent entity called folliculocystic and collagen hamartoma, with a special emphasis on helpful clues for TSC in such lesions.

scholarly journals A Young Girl with Tuberous Sclerosis Presenting with Recurrent Episodes of Convulsion & Right Sided Hemiparesis

2016 ◽  
Vol 17 (2) ◽  
pp. 125-129
Author(s):  
Partha Sarathi Sarker ◽  
Sarmin Akhter ◽  
Md Saidur Rahman ◽  
Md Monjurul Kader Chowdhury ◽  
Palash Kumar Biswas ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Skin Lesions ◽  
Young Girl ◽  
Neurocutaneous Syndrome ◽  
Cortical Tubers ◽  
Minor Criteria ◽  
Progressive Weakness ◽  
Subependymal Nodules

Tuberous Sclerosis Complex (TSC) is a neurocutaneous syndrome manifested by involvement of multiple system including CNS, kidney, skin, heart, lungs & eye. It is usually characterized by triad of skin lesions (96%), seizures (90%) & mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches, subependymal nodules, cortical tubers, mental retardation &angiomyolipoma of kidney. Here we report a case of a 14 years old girl who presented with recurrent episodes of convulsion, mental retardation & progressive weakness of right side of body. We investigated the patient to find out the etiology of her illness. After cranial imaging & other necessary investigations several major & minor criteria were established, which helped us to reach the final diagnosisJ MEDICINE July 2016; 17 (2) : 125-129

Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

Photosensitization Induced by Heterophyllaea pustulata in Goats: Sequential Development of Skin Lesions

2021 ◽  
Vol 58 (3) ◽  
pp. 568-573
Author(s):  
Juan F. Micheloud ◽  
Lluís Luján ◽  
Luis A. Colque-Caro ◽  
Susana C. Núñez-Montoya ◽  
Claudio G. Barbeito ◽  
...  
Keyword(s):  
Cell Death ◽  
Oral Dose ◽  
Skin Lesions ◽  
Crust Formation ◽  
Cutaneous Lesions ◽  
Protein Ratio ◽  
Dermal Fibrosis ◽  
Sequential Development ◽  
Treatment Changes ◽  
Skin Biopsies

Five adult Saanen goats received a single oral dose of Heterophyllaea pustulata containing 42.25 μg/kg rubiadin (anthraquinone) and 3 adult goats were untreated controls. All goats were exposed to sunlight and sequential ear skin biopsies were collected before treatment and at 32 hours, 3 days, 8 days, and 15 days after treatment. Changes at 32 hours after dosing included epidermal spongiosis, single cell death and acantholysis, an increased BAX/BCL-2 protein ratio, and dermal edema. Lesions at day 3 included epidermal and adnexal necrosis, crust formation, and acanthosis. Acanthosis, hyperkeratosis, and dermal fibrosis and neovascularization were present at day 15. The pro-apoptotic (BAX)/anti-apoptotic (BCL-2) protein ratio increased at 32 hours, whereas epidermal and dermal PCNA immunolabeling increased between days 8 and 15 after treatment. The cutaneous lesions were consistent with sunlight-induced damage, and the occurrence in treated but not control goats indicates photosensitization.

Tuberous Sclerosis Complex

2017 ◽  
Author(s):  
Tanjala T. Gipson ◽  
Andrea Poretti ◽  
Rebecca McClellan ◽  
Michael V. Johnston
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Scientific Discovery ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Behavioral Difficulties ◽  
Future Directions ◽  
Neurocutaneous Disorder ◽  
The Status ◽  
The Brain

Tuberous sclerosis complex (TSC) is a disease, commonly classified as a neurocutaneous disorder, which may result in benign tumors throughout the brain and body, skin lesions, epilepsy, and cognitive/behavioral difficulties. Scientific discovery in TSC has resulted in the availability of treatments designed to target the neurobiological core of TSC in children. However, research is needed to determine if these treatments are effective for multiple aspects of the TSC phenotype in children. Current pediatric research studies have focused on the effects of early treatment of epilepsy as well as identification of potential biomarkers. This chapter reviews the aspects of TSC unique to pediatric patients, the status of current research, and future directions.

Description of a multidisciplinary model of care in a French cohort of adult patients with tuberous sclerosis complex

2020 ◽  
Vol 58 (1) ◽  
pp. 25-31
Author(s):  
Pierre Pfirmann ◽  
Jerome Aupy ◽  
Eva Jambon ◽  
Laetitia Idier ◽  
Mathilde Prezelin-Reydit ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Multidisciplinary Approach ◽  
Genetic Disorder ◽  
Multidisciplinary Care ◽  
Adult Patients ◽  
Bone Lesions ◽  
Interdisciplinary Management ◽  
Cutaneous Lesions ◽  
High Level

BackgroundTuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Due to the various manifestations of TSC and their potential complications, a multidisciplinary care approach is recommended by consensus guidelines.ObjectivesOur study aimed to give a complete description of our TSC adult cohort and to evaluate the multidisciplinary and interdisciplinary management model.MethodsData on each adult patient diagnosed with TSC, including disease manifestations, interventions and outcomes, were collected at baseline and updated annually. A multidisciplinary TSC approach with all the recommended explorations was carried out annually.Results90 patients were enrolled in Centre Hospitalier Universitaire de Bordeaux, between January 2000 and September 2018. Median age of patients at inclusion was 37 years (range, 27–47) and 20 years old at diagnosis of TSC. Regarding the occurrence of TSC manifestations, 97% of the patients had cutaneous lesions, 89% had neurological manifestations, 83% had renal manifestations and 100% had dental lesions with pits. More than half the patients had sclerotic bone lesions (68%), TSC-associated neuropsychiatric disorders (64%) and lymphangioleiomyomatosis (59%). A TSC multidisciplinary approach was developed including a global follow-up and an evaluation of TSC targeting organs, according to the recommendations. A satisfaction survey revealed global and entire satisfaction of patients with TSC.ConclusionWe obtained an accurate description of a cohort of adult patients with TSC. Our multidisciplinary approach model allowed us to provide optimal management of patients with TSC with a high level of patient satisfaction.

scholarly journals Tale of a Teenager: A Case Report of Tuberous Sclerosis

2021 ◽  
Vol 33 (1) ◽  
pp. 99-103
Author(s):  
Nawsabah Noor ◽  
Iffat Ara Jurfa ◽  
Halima Khatun ◽  
Homayra Tahseen ◽  
Quazi Tarikul Islam
Keyword(s):  
Case Report ◽  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Benign Tumors ◽  
Dominant Inheritance ◽  
Neurocutaneous Syndrome ◽  
The Brain

Tuberous sclerosis complex is an unusual neurocutaneous syndrome with autosomal-dominant inheritance. It is characterized by the development of benign tumors involving the brain, skin, retina, heart, kidneys, lungs, and liver. The classic triad of clinical features comprises learning disability, epilepsy and skin lesions but there is marked heterogeneity in clinical features. Here, we present a case report of a 17-old-year male with characteristic clinical and radiological features of tuberous sclerosis complex. Bangladesh J Medicine July 2022; 33(1) : 99-103

scholarly journals Renal Manifestations of Tuberous Sclerosis Complex

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Author(s):  
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidharth K. Sethi ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Gene Disruption ◽  
Treatment Guidelines ◽  
Renal Cysts ◽  
Skin Lesions ◽  
Multiple Organ ◽  
Tsc2 Gene ◽  
Genetic Condition ◽  
Organ Systems

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors, and seizures. TSC can manifest in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts, and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

scholarly journals Demographic, Clinical, and Radiographic Characteristics of Cerebral Aneurysms in Tuberous Sclerosis Complex

2020 ◽  
Author(s):  
Mehdi Chihi ◽  
Ulrich Sure ◽  
Ramazan Jabbarli
Keyword(s):  
Systematic Review ◽  
Magnetic Resonance ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Mr Angiography ◽  
Cerebral Aneurysms ◽  
Consensus Conference ◽  
Current Evidence ◽  
Recent Systematic Review

To date, little is known on the prevalence, incidence, and characteristics of intracranial aneurysms (IA) in patients with tuberous sclerosis complex (TSC). Based on our recent systematic review and two cases treated in our institute, we summarize the current evidence concerning the distinct characteristics of these aneurysms. In contrast to saccular IA in healthy adults, IA in TSC present commonly with large or even giant sac size and fusiform configuration, location predilection on the internal carotid artery remote from the branching zones, remarkable higher prevalence of pediatric cases, inverted sex-ratio, and suspected rapid growth. Although the pathogenesis of IA in TSC is still unclear, all these features might point to the crucial role a congenital defect in the development of IA rather than extrinsic or environmental factors. Furthermore, we discuss the enhancement of the regular magnetic resonance (MR) imaging screening suggested by the last recommendations of the 2012 International TSC Consensus Conference with cranial time-of-flight MR angiography in order to enable timely identification and treatment of frequently complex IA in TSC.

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