Neonatal Tuberous Sclerosis: is skin really the window?

2021 ◽  
Vol 11 (1) ◽  
pp. 23-25
Author(s):  
Tushar Kulkarni ◽  
Khaled El-Atawi ◽  
Mahmoud Elhalik
Keyword(s):  
Sequence Analysis ◽  
Tuberous Sclerosis ◽  
Cutaneous Manifestation ◽  
Next Generation ◽  
Epidermal Nevus ◽  
Intracardiac Mass ◽  
Mri Brain

We report a case of a neonate who was diagnosed to have intracardiac mass as a fetus and presented with white linear papules that was diagnosed to be Linear Verrucous Epidermal Nevus. Apart from the intracardiac mass, most likely rhabdomyoma, MRI Brain also showed presence of tubers and the Next Generation Sequence Analysis confirmed the diagnosis of Neonatal Tuberous Sclerosis. The neonate remained asymptomatic and was discharged home and remains under close follow up without any symptoms. It is thus suggested that Linear Verrucous Epidermal Nevus, a cutaneous manifestation not described with Tuberous Sclerosis could be considered under the ever-expanding cutaneous signs of Tuberous Sclerosis and should alert the physician toward its possibility.

scholarly journals Multiple Koenen Tumors, a Rare Entity: Combination Treatment with 1% Topical Sirolimus Electrofulguration and Excision

2020 ◽  
Vol 7 (1) ◽  
pp. 66-70
Author(s):  
Vishalakshi Viswanath ◽  
Jay D. Gupte ◽  
Niharika Prabhu ◽  
Nilima L. Gour
Keyword(s):  
Tuberous Sclerosis ◽  
Combination Treatment ◽  
Tumor Regression ◽  
Surgical Excision ◽  
Tumor Formation ◽  
Rare Entity ◽  
Rare Presentation ◽  
Cutaneous Manifestations ◽  
Elderly Female

<b><i>Introduction:</i></b> Koenen tumors are benign, cutaneous manifestations of tuberous sclerosis. These are disfiguring, painful, and challenging to treat as they frequently recur. We report a case of long-standing, multiple Koenen tumors affecting all twenty nails in an elderly female who was successfully treated with a combination of topical sirolimus 1%, surgical excision, and electrofulguration. <b><i>Case Report:</i></b> A 57-year-old lady presented with multiple, asymptomatic periungual, and subungual tumors affecting all twenty nails since 27 years. Cutaneous examination revealed confetti macules, ash-leaf macule, and shagreen patch over trunk. Nail biopsy was compatible with Koenen’s tumor. Computerized tomography of brain showed diffuse patchy sclerosis. The tumors were treated with topical sirolimus 1% ointment for 10 months with excellent regression. Electro­fulguration for both great toenails and surgical excision of right thumbnail periungual fibroma was done. 1% sirolimus was advised after the surgical treatment. There were no adverse effects or recurrence of tumors over a 2-year follow-up. <b><i>Discussion:</i></b> Topical sirolimus 1% was effective in tumor regression and preventing new tumor formation. Larger tumors that interfered in daily chores were treated with excision and electrofulguration. Thus, a combination treatment for this rare presentation of tuberous sclerosis provided optimum results.

scholarly journals Tuberous Sclerosis with Severe Cutaneous Manifestation and Multiples Facial Angiofibromas

2016 ◽  
Vol 10 (4) ◽  
pp. 542-546 ◽  
Author(s):  
Natália Galvão Garcia ◽  
Marina Lara de Carli ◽  
Denise Tostes Oliveira ◽  
Cléverson Teixeira Soares ◽  
Noé Vital Ribeiro Júnior ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Cutaneous Manifestation

Bimbingan Nilai-Nilai Spiritual Di Madrasah Aliyah Mafaza Bantul Yogyakarta

2021 ◽  
Vol 6 (2) ◽  
pp. 1
Author(s):  
Heri Fadli Wahyudi
Keyword(s):  
High School ◽  
Data Analysis ◽  
Human Person ◽  
Religious Values ◽  
Next Generation ◽  
Spiritual Values ◽  
Vertical Relationship ◽  
The Subject ◽  
Descriptive Approach

The cultivation of spiritual values to learners is a very vital step in shaping the characteristics and character of the human person, because the internalization of spiritual values is closely related to the cultivation of religious values, and is part of the formation of adolescent character as the next generation of religion and nation. This research is to find out the process of planting and internalizing spiritual value education conducted at The Senior high school of Mafaza Institute located in the Maguntapan Bantul area of Yogyakarta, while the type in this study is qualitative with a descriptive approach, while the subject in this study is teachers or teachers at this institution as well as some M.A. Mafaza students. While the data collected passes through the process of interviews, observations and documentation which then the author of the data analysis to draw conclusions. The results of this study show the following: 1). The process of planting and internalizing values and spiritual in this institution is carried out with an understanding of the material in the classes. 2). Then as a follow-up in the form of application in programs and activities such as requiring mandatory congregational prayers, sunnah worship and others, there are also activities such as the loving mosque and the the Adiwiata program. So from there it is seen that all aspects in value and spiritual, namely the aspect of Aqidah and Worship become the center of attention in planting to their students. So that it covers everything, either in the pattern of vertical relationship (Servant-Godnya) or horizontal (Servants and Environment).

scholarly journals Bilateral angiomyolipoma of the kidney in patient with tuberous sclerosis

2005 ◽  
Vol 133 (9-10) ◽  
pp. 433-437
Author(s):  
Radoje Colovic ◽  
Natasa Colovic ◽  
Nikica Grubor ◽  
Vladimir Radak ◽  
Marijan Micev ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Complete Loss ◽  
Hla Typing ◽  
Uneventful Recovery ◽  
Loss Of Function ◽  
Kidney Tumors ◽  
Benign Nature ◽  
The Right ◽  
Slow Growing

Angiomyolipomas are relatively frequent tumors of the kidney. It is believed that about 10 million people worldwide have such a tumor. About 1/10 of these 10 million are patients who suffer from tuberous sclerosis. The tumors are frequently bilateral, slow growing, and usually a symptomatic, as well as being rare in children. Due to the benign nature of angiomyolipomas, surgical treatment and embolisation of the tumors are generally not recommended, unless renal function is endangered, the symptoms are severe, or the kidney in question becomes completely dysfunctional. This is particularly the case in patients with tuberous sclerosis in whom these tumors are either already bilateral or may become so. We present a 24-year-old woman with tuberous sclerosis in whom bilateral kidney tumors were diagnosed 7 years earlier and in whom we carried out a left nephrectomy of a 5300 gram angiomyolipoma, which caused pain and complete loss of function. Although timorous, the right kidney was functional, so it was left untouched. After an uneventful recovery, a close follow-up was recommended, as well as HLA typing, as it is highly probable that the right kidney will gradually become inadequate or completely dysfunctional, so that haemodialysis and/or kidney transplantation along with nephrectomy will become necessary.

scholarly journals Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience

2017 ◽  
Vol 5 (2) ◽  
pp. 193-196 ◽  
Author(s):  
Ramush Bejiqi ◽  
Ragip Retkoceri ◽  
Hana Bejiqi
Keyword(s):  
Prenatal Diagnosis ◽  
Tuberous Sclerosis ◽  
Fetal Echocardiography ◽  
Tumour Size ◽  
Primary Tumour ◽  
Postnatal Period ◽  
Single Centre ◽  
Cardiac Rhabdomyoma ◽  
Ultrasound Evaluation

BACKGROUND: Cardiac rhabdomyoma (CRs) are the most common primary tumour of the heart in infants and children. Usually are multiple and, basing on the location can cause a haemodynamic disturbance, dysrhythmias or heart failure during the fetal and early postnatal period. CRs have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). It has an association with tuberous sclerosis (TS), and in those, the tumour may regress and disappear completely, or remain consistent in size. AIM: We aimed to evaluate the prenatal diagnosis, clinical presentation and outcome of CRs and their association with TSC in a single centre. The median follow-up period was three years (range: 6 months - 5 years). MATERIAL AND METHODS: We reviewed medical records of all fetuses diagnosed prenatally with cardiac rhabdomyoma covering the period January 2010 to December 2016 which had undergone detailed ultrasound evaluation at a single centre with limited technical resources. RESULTS: Twelve fetuses were included in the study; mostly had multiple tumours and a total of 53 tumours were identified in all patients - the maximum was one fetus with16 tumours. All patients were diagnosed prenatally by fetal echocardiography. In two patient's haemodynamic disturbances during the fetal period was noted and pregnancies have been terminated. After long consultation termination of pregnancy was chosen by the parents in totally 8 cases. In four continuing pregnancies during the first year of live tumours regressed. TSC was diagnosed in all patients during the follow-up. CONCLUSIONS: Cardiac rhabdomyoma are benign from the cardiovascular standpoint in most affected fetuses. An early prenatal diagnosis may help for an adequate planning of perinatal monitoring and treatment with the involvement of a multidisciplinary team. Large tumour size, the number of tumours and localisation may cause hydrops, and they are significantly associated with poor neonatal outcome.

scholarly journals The Impact of Clonal Hematopoiesis of Indeterminate Potential on Survival in Patients with Newly Diagnosed Acute Myeloid Leukemia

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4359-4359
Author(s):  
Koji Sasaki ◽  
Rashmi Kanagal-Shamanna ◽  
Guillermo Montalban-Bravo ◽  
Rita Assi ◽  
Kiran Naqvi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Myeloid Leukemia ◽  
Research Funding ◽  
Newly Diagnosed ◽  
Next Generation ◽  
Risk Of Death ◽  
Genetics Research ◽  
The Impact ◽  
Generation Sequencing

Abstract Introduction: Clearance of detected somatic mutations at complete response by next-generation sequencing is a prognostic marker for survival in patients with acute myeloid leukemia (AML). However, the impact of allelic burden and persistence of clonal hematopoiesis of indeterminate potential (CHIP)-associated mutations on survival remains unclear. The aim of this study is to evaluate the prognostic impact of allelic burden of CHIP mutations at diagnosis, and their persistence within 6 months of therapy. Methods: From February 1, 2012 to May 26, 2016, we reviewed 562 patients with newly diagnosed AML. Next-generation sequencing was performed on the bone marrow samples to detect the presence of CHIP-associated mutations defined as DNMT3A, TET2, ASXL1, JAK2 and TP53. Overall survival (OS) was defined as time period from the diagnosis of AML to the date of last follow-up or death. Univariate (UVA) and multivariate Cox proportional hazard regression (MVA) were performed to identify prognostic factors for OS with p value cutoff of 0.020 for the selection of variables for MVA. Landmark analysis at 6 months was performed for the evaluation of the impact of clearance of CHIP, FLT3-ITD, FLT3D835, and NPM1 mutations. Results: We identified 378 patients (74%) with AML with CHIP mutations; 134 patients (26%) with AML without CHIP mutations. The overall median follow-up of 23 months (range, 0.1-49.0). The median age at diagnosis was 70 years (range, 17-92) and 66 years (range, 20-87) in CHIP AML and non-CHIP AML, respectively (p =0.001). Of 371 patients and 127 patients evaluable for cytogenetic in CHIP AML and non-CHIP AML, 124 (33%) and 25 patients (20%) had complex karyotype, respectively (p= 0.004). Of 378 patients with CHIP AML, 183 patients (48%) had TET2 mutations; 113 (30%), TP53; 110 (29%), ASXL1; 109 (29%), DNMT3A; JAK2, 46 (12%). Of 378 patients, single CHIP mutations was observed in 225 patients (60%); double, 33 (9%); triple, 28 (7%); quadruple, 1 (0%). Concurrent FLT3-ITD mutations was detected in 47 patients (13%) and 12 patients (9%) in CHIP AML and non-CHIP AML, respectively (p= 0.287); FLT3-D835, 22 (6%) and 8 (6%), respectively (p= 0.932); NPM1 mutations, 62 (17%) and 13 (10%), respectively (p= 0.057). Of 183 patients with TET2-mutated AML, the median TET2 variant allele frequency (VAF) was 42.9% (range, 2.26-95.32); of 113 with TP53-mutated AML, the median TP53 VAF, 45.9% (range, 1.15-93.74); of 109 with ASXL1-mutated AML, the median ASXL1 VAF was 34.5% (range, 1.17-58.62); of 109 with DNMT3A-mutated AML, the median DNMT3A VAF was 41.8% (range, 1.02-91.66); of 46 with JAK2-mutated AML, the median JAK2 VAF was 54.4% (range, 1.49-98.52). Overall, the median OS was 12 months and 11 months in CHIP AML and non-CHIP AML, respectively (p= 0.564); 16 months and 5 months in TET2-mutated AML and non-TET2-mutated AML, respectively (p <0.001); 4 months and 13 months in TP53-mutated and non-TP53-mutated AML, respectively (p< 0.001); 17 months and 11 months in DNMT3A-mutated and non-DNMT3A-mutated AML, respectively (p= 0.072); 16 months and 11 months in ASXL1-mutated AML and non-ASXL1-mutated AML, respectively (p= 0.067); 11 months and 12 months in JAK2-murated and non-JAK2-mutated AML, respectively (p= 0.123). The presence and number of CHIP mutations were not a prognostic factor for OS by univariate analysis (p=0.565; hazard ratio [HR], 0.929; 95% confidence interval [CI], 0.722-1.194: p= 0.408; hazard ratio, 1.058; 95% confidence interval, 0.926-1.208, respectively). MVA Cox regression identified age (p< 0.001; HR, 1.036; 95% CI, 1.024-1.048), TP53 VAF (p= 0.007; HR, 1.009; 95% CI, 1.002-1.016), NPM1 VAF (p=0.006; HR, 0.980; 95% CI, 0.967-0.994), and complex karyotype (p<0.001; HR, 1.869; 95% CI, 1.332-2.622) as independent prognostic factors for OS. Of 33 patients with CHIP AML who were evaluated for the clearance of VAF by next generation sequencing , landmark analysis at 6 months showed median OS of not reached and 20.3 months in patients with and without CHIP-mutation clearance, respectively (p=0.310). Conclusion: The VAF of TP53 and NPM1 mutations by next generation sequencing can further stratify patients with newly diagnosed AML. Approximately, each increment of TP53 and NPM1 VAF by 1% is independently associated with 1% higher risk of death, and 2% lower risk of death, respectively. The presence of CHIP mutations except TP53 does not affect outcome. Disclosures Sasaki: Otsuka Pharmaceutical: Honoraria. Short:Takeda Oncology: Consultancy. Ravandi:Macrogenix: Honoraria, Research Funding; Seattle Genetics: Research Funding; Sunesis: Honoraria; Xencor: Research Funding; Jazz: Honoraria; Seattle Genetics: Research Funding; Abbvie: Research Funding; Macrogenix: Honoraria, Research Funding; Bristol-Myers Squibb: Research Funding; Orsenix: Honoraria; Abbvie: Research Funding; Jazz: Honoraria; Xencor: Research Funding; Orsenix: Honoraria; Sunesis: Honoraria; Amgen: Honoraria, Research Funding, Speakers Bureau; Bristol-Myers Squibb: Research Funding; Astellas Pharmaceuticals: Consultancy, Honoraria; Amgen: Honoraria, Research Funding, Speakers Bureau; Astellas Pharmaceuticals: Consultancy, Honoraria. Kadia:BMS: Research Funding; Abbvie: Consultancy; Takeda: Consultancy; Jazz: Consultancy, Research Funding; Takeda: Consultancy; Amgen: Consultancy, Research Funding; Celgene: Research Funding; Novartis: Consultancy; Amgen: Consultancy, Research Funding; BMS: Research Funding; Jazz: Consultancy, Research Funding; Pfizer: Consultancy, Research Funding; Pfizer: Consultancy, Research Funding; Novartis: Consultancy; Abbvie: Consultancy; Celgene: Research Funding. DiNardo:Karyopharm: Honoraria; Agios: Consultancy; Celgene: Honoraria; Medimmune: Honoraria; Bayer: Honoraria; Abbvie: Honoraria. Cortes:Novartis: Consultancy, Research Funding; Pfizer: Consultancy, Research Funding; Daiichi Sankyo: Consultancy, Research Funding; Astellas Pharma: Consultancy, Research Funding; Arog: Research Funding.

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