scholarly journals Leopard syndrome: the potential cardiac defect underlying skin phenotypes

Hereditas ◽  
2021 ◽  
Vol 158 (1) ◽  
Author(s):  
Xiaojie Yue ◽  
Xiong Zhao ◽  
Yefeng Dai ◽  
Lan Yu.
Keyword(s):  
Early Stage ◽  
Pulmonary Stenosis ◽  
Pathological Examination ◽  
Leopard Syndrome ◽  
Cardiac Damage ◽  
Melanocytic Nevi ◽  
Café Au Lait Spots ◽  
Potential Damage ◽  
Ocular Hypertelorism ◽  
Multiple Lentigines

AbstractLEOPARD syndrome (OMIM #151,100) caused by a germline PTPN11 mutation are characterized as multisystemic anomalies and variable marked phenotypes such as multiple lentigines and cafe´-au-lait spots, electrocardiographic conduction abnormalities, ocular hypertelorism/obstructive cardiomyopathy, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness. Phenotype overlap complicates clinical discrimination within RASopathies, making the diagnosis of LEOPARD more confusing and challenging. Besides, LEOPARD patients do not usually present with all these typical clinical features, increasing the possibility of underdiagnosis or misdiagnosis.Herein, we report a case of LEOPARD syndrome in a patient who only presented with pigmented skin spots and was initially diagnosed with multiple acquired melanocytic nevi. Subsequent pathological examination confirmed the diagnosis of multiple lentigines rather than melanocytic nevi. A genetic study showed a germline PTPN11 (Tyr279Cys) mutation and raised the suspicion of LEOPARD syndrome. A subsequent ECG examination detected potential cardiac defects and confirmed the diagnosis of LEOPARD. We considered that the potential damage of other systems underlying the skin multiple lentigines should not be ignored. The diagnosis of LEOPARD syndrome in an early stage before cardiac damage has reached a serious and irreversible stage can be meaningful for patients to fully understand the potential risks, complications and prognosis of the disease and to take appropriate precautions to prevent the potential risk of cardiac damage.

scholarly journals Dermatologic Manifestations of the LEOPARD Syndrome

2013 ◽  
Vol 7 (1) ◽  
pp. 11-14 ◽  
Author(s):  
S. Cao ◽  
A.F. Nikkels
Keyword(s):  
Pulmonary Stenosis ◽  
Clinical Manifestations ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Melanocytic Nevi ◽  
Progressive Development ◽  
Progressive Growth ◽  
Ocular Hypertelorism ◽  
Dermatologic Manifestations

The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missense mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and deafness. A woman with a LEOPARD syndrome illustrates the progressive development of melanocytic nevi. In fact, the majority of lentigines are actually melanocytic nevi. Sequential digital dermoscopy evidences progressive growth of some melanocytic lesions. The ever-increasing number of melanocytic nevi in the LEOPARD syndrome is a risk factor for melanoma and full body photography and dermoscopy are recommended for follow-up.

scholarly journals The First Vietnamese Patient of LEOPARD Syndrome due to a PTPN11 Mutation: A Case Report and Review of the Literature

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Hao Trong Nguyen ◽  
Nguyen Nhat Pham ◽  
Hoang Anh Vu ◽  
Tu Nguyen Anh Tran
Keyword(s):  
Pulmonary Valve ◽  
Ho Chi Minh City ◽  
City Hospital ◽  
Leopard Syndrome ◽  
Ptpn11 Gene ◽  
Ptpn11 Mutation ◽  
First Case ◽  
Brownish Black ◽  
Ocular Hypertelorism ◽  
Multiple Lentigines

LEOPARD syndrome is a rare congenital anomaly that involves several organs. Patients with this syndrome develop multiple lentigines resembling a leopard’s hide. LEOPARD is an acronym of the major features constituting the syndrome including lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary valve stenosis, anomalies of genitalia, retardation of growth, and deafness. The syndrome is rare, and only 200 cases have been reported yet worldwide. We present the case of an 8-year-old female patient who visited the Ho Chi Minh City Hospital of Dermato-Venereology because of multiple brownish-black “dots” on her face and body. On examination, she also showed abnormalities in the maxillofacial bones, vertebrae, shoulders, sternum, and teeth, as well as deaf-mutism and growth retardation, which are typical of LEOPARD syndrome. Genetic analysis revealed a PTPN11 gene mutation in this case. To the best of our knowledge, this is the first case of LEOPARD syndrome reported in Vietnam.

scholarly journals Gangguan pendengaran pada sindroma LEOPARD

2012 ◽  
Vol 42 (2) ◽  
Author(s):  
Semiramis Zizlavsky ◽  
Ronny Suwento ◽  
Dina Alia
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Pulmonary Stenosis ◽  
Sensorineural Deafness ◽  
Sensorineural Hearing ◽  
Leopard Syndrome ◽  
Brainstem Evoked Response Audiometry ◽  
Delayed Onset ◽  
Ocular Hypertelorism ◽  
Evoked Response Audiometry

Background: Leopard syndrome is a rare case, only around 200 cases has been reported worldwide.  Leopard syndrome is abbreviation for multipel Lentigines, Electrocardiographic conduction, Ocular hypertelorism, Pulmonary stenosis, Abnormality of genitalia, Retardation of growth, and sensorineural Deafness. This disorder suggests a possible relation between PTPN11 gene mutations and distinct clinical features. Purpose: This case is presented so that ENT specialists could identify signs and symptoms of Leopard Syndrome which manifest as sensorineural hearing loss (SNHL). Case: We report a 29 year old woman with multiple lentigines, scoliosis and atrial septal defect. She has 4 year old twin boys, one of them has cryptorchidism and a 10 month old girl with asymmetric septal hypertrophy and they also have multipel lentigines. They were referred to ENT Department for auditory function screening since  Leopard syndrome is suspected. The audiometry of the mother reveals mild conductive deafness (40 dB)  in right ear due to tympanic membrane perforation. Audiometry of the twin boys reveals sensorineural hearing loss above 4000 Hz frequency. Brainstem Evoked Response Audiometry (BERA) of the daughter reveals mild sensorineural hearing loss (40 dB )on right ear. Genogram shows that the disorders is dominant autosomal inherited. Management: Periodic auditory examination for sensorineural hearing loss is recommended since delayed onset could occur. Conclusion: Sensorineural hearing loss is a mani-festation of Leopard syndrome that should be assessed early and periodically to detect delayed onset. Keywords: Sensorineural hearing loss (SNHL), Leopard syndrome, generalized lentiginosa.    Abstrak :  Latar belakang: Sindroma Leopard merupakan kasus yang jarang ditemukan dan dari publikasi yang ada, hingga saat ini hanya terdapat 200 kasus di seluruh dunia. Sindroma Leopard merupakan singkatandari Lentigines multipel, Electrocardiographic conduction, Ocular hypertelorism, Pulmonary stenosis,Abnormality of genitalia, Retardation of growth and sensorineural Deafness. Kelainan ini disebabkan olehmutasi gen PTPN11 dengan gambaran klinis yang khas. Tujuan: Kasus ini diajukan agar spesialis THTmengenali gejala sindroma Leopard yang dapat melibatkan gangguan pendengaran berupa sensorineuralhearing loss(SNHL) sehingga tidak terjadi keterlambatan dalam penatalaksanaan. Kasus: Perempuanberusia 29 tahun dengan lentiginosa multipel, skoliosis dan defek septum atrium. Ia memiliki 2 anaklaki-laki kembar yang salah satunya mengalami kriptorkismus dan anak perempuan usia 10 bulan yangmenderita hipertrofi septum asimetris dan juga menderita multipel lentiginosa. Mereka dikonsulkan ke THT dari bagian kulit RSCM untuk pemeriksaan fungsi pendengaran dengan kecurigaan sindromaLeopard. Pada pemeriksaan audiometri diperoleh hasil pada ibu berupa tuli konduktif ringan (40 dB)telinga kanan akibat perforasi membran timpani. Dua orang anak kembar menunjukkan hasil tuli sarafdi atas frekuensi 4000 Hz. Pemeriksaan Brainstem Evoked Response Audiometry (BERA) pada anakperempuan menunjukkan tuli saraf ringan (40 dB) di telinga kanan. Genogram menunjukkan kelainanautosom dominan. Penatalaksanaan: Tindak lanjut berupa pemeriksaan pendengaran secara berkaladianggap penting untuk mendeteksi terjadinya awitan lambat. Kesimpulan: SNHL merupakan salah satumanifestasi sindroma Leopard yang perlu diperiksa untuk mendeteksi terjadi awitan lambat. Kata kunci: Sensorineural hearing loss (SNHL), sindroma Leopard, lentiginosa multipel.

scholarly journals Circular RNAs in Sudden Cardiac Death Related Diseases: Novel Biomarker for Clinical and Forensic Diagnosis

Molecules ◽  
2021 ◽  
Vol 26 (4) ◽  
pp. 1155
Author(s):  
Meihui Tian ◽  
Zhipeng Cao ◽  
Hao Pang
Keyword(s):  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Early Stage ◽  
Diagnostic Value ◽  
Circular Rnas ◽  
Cardiac Damage ◽  
Postmortem Diagnosis ◽  
Specific Expression ◽  
Forensic Practice ◽  
Artery Disease

The prevention and diagnosis of sudden cardiac death (SCD) are among the most important keystones and challenges in clinical and forensic practice. However, the diagnostic value of the current biomarkers remains unresolved issues. Therefore, novel diagnostic biomarkers are urgently required to identify patients with early-stage cardiovascular diseases (CVD), and to assist in the postmortem diagnosis of SCD cases without typical cardiac damage. An increasing number of studies show that circular RNAs (circRNAs) have stable expressions in myocardial tissue, and their time- and tissue-specific expression levels might reflect the pathophysiological status of the heart, which makes them potential CVD biomarkers. In this article, we briefly introduced the biogenesis and functional characteristics of circRNAs. Moreover, we described the roles of circRNAs in multiple SCD-related diseases, including coronary artery disease (CAD), myocardial ischemia or infarction, arrhythmia, cardiomyopathy, and myocarditis, and discussed the application prospects and challenges of circRNAs as a novel biomarker in the clinical and forensic diagnosis of SCD.

scholarly journals Using IVIM-MRI and R2⁎ Mapping to Differentiate Early Stage Liver Fibrosis in a Rat Model of Radiation-Induced Liver Fibrosis

2018 ◽  
Vol 2018 ◽  
pp. 1-9 ◽  
Author(s):  
Jianye Liang ◽  
Xiubao Song ◽  
Zeyu Xiao ◽  
Hanwei Chen ◽  
Changzheng Shi ◽  
...  
Keyword(s):  
Liver Fibrosis ◽  
Rat Model ◽  
Early Stage ◽  
Blue Staining ◽  
Pathological Examination ◽  
Strong Positive Correlation ◽  
Radiation Induced ◽  
Motion Mri ◽  
Right Lobe ◽  
D Values

Rationale and Objectives. To investigate the utility of intravoxel incoherent motion MRI (IVIM-MRI) and R2⁎ mapping in diagnosing early stage liver fibrosis in a radiation-induced rat model. Materials and Methods. Thirty rats were randomly divided into three groups with 10 rats in each group. Liver fibrosis was induced by exposure of right lobe of liver in each animal to 20 Gy of radiation. MRI examination was conducted at baseline, one month, two months, and three months after radiation using T1WI, T2WI, IVIM-DWI, and R2⁎ sequences. The pathological examination included hematoxylin eosin, masson trichrome, and prussian blue staining. D, D⁎, f, and R2⁎ values were measured in both left and right lobes for quantitative analysis. Results. Regarding the surviving 23 rats, eight rats were diagnosed with stage F0, ten with stage F1, and five with stage F2 liver fibrosis using METAVIR Scores. The D values of right lobes decreased (P<0.05), and R2⁎ values increased (P<0.01) significantly as fibrosis levels increased. But there was no statistical difference in D⁎ (P=0.970) and f values (P=0.079). R2⁎ value showed a strong positive correlation (r=0.819, P<0.001), while D value showed a negative correlation with fibrosis stages (r=-0.424, P<0.001). D⁎ (r=0.029, P=0.744) and f values (r=-0.055, P=0.536) were poorly correlated with fibrosis levels. Conclusion. IVIM-MRI and R2⁎ mapping are useful techniques for evaluating the severity of liver fibrosis in a radiation-induced rat model, and R2⁎ value is the most sensitive parameter in detecting early stage fibrosis.

scholarly journals LEOPARD Syndrome Without Hearing Loss or Pulmonary Stenosis: A Report of 2 Cases

2015 ◽  
Vol 106 (4) ◽  
pp. e19-e22
Author(s):  
T.T. Ramos-Geldres ◽  
P. Dávila-Seijo ◽  
A. Duat-Rodríguez ◽  
L. Noguera-Morel ◽  
B. Ezquieta-Zubicaray ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Pulmonary Stenosis ◽  
Leopard Syndrome

scholarly journals A Rare Finding During a Common Procedure: Xanthogranulomatous Cholecystitis

2014 ◽  
Vol 99 (5) ◽  
pp. 595-599 ◽  
Author(s):  
Fatih Taskesen ◽  
Zulfu Arikanoglu ◽  
Omer Uslukaya ◽  
Abdullah Oguz ◽  
Ibrahim Aliosmanoglu ◽  
...  
Keyword(s):  
Open Surgery ◽  
Early Stage ◽  
Chronic Cholecystitis ◽  
Pathological Examination ◽  
Wall Thickening ◽  
Xanthogranulomatous Cholecystitis ◽  
Common Procedure ◽  
History Of ◽  
Difficult Cholecystectomy ◽  
Destructive Inflammation

Abstract Xanthogranulomatous cholecystitis is a rare variant of chronic cholecystitis characterized by severe proliferative fibrosis and accumulation of lipid-laden macrophages in regions of destructive inflammation. Xanthogranulomatous cholecystitis clinically and radiologically mimics early-stage gallbladder cancer, with wall thickening on computed tomography. The study included 14 xanthogranulomatous cholecystitis patients that were identified following retrospective analysis of the records of 1248 patients that underwent cholecystectomy between 2005 and 2011. Mean age of the 5 male and 9 female patients was 56.7 years. All 14 patients had gallbladder stones; 10 had a history of acute cholecystitis, 1 had cholangitis, and 2 presented with obstructive jaundice. A right-upper quadrant mass was palpable in 2 patients. All patients underwent cholecystectomy. Open surgery was planned and performed in 6 of the 14 patients, and laparoscopic cholecystectomy was planned in 8 patients, but was converted to open surgery in 1 case. In total, 1 patient developed wound infection, 1 patient had postoperative pneumonia, and 1 patient developed intraabdominal hematoma. None of the patients in the series died. Xanthogranulomatous cholecystitis is difficult to diagnose, both preoperatively and intraoperatively, and definitive diagnosis depends exclusively on pathological examination. Xanthogranulomatous cholecystitis should be a consideration in all difficult cholecystectomy cases.

scholarly journals Primary Malignant Melanoma of the Rectum: Report of Two Cases

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
Kodai Tomioka ◽  
Hitoshi Ojima ◽  
Makoto Sohda ◽  
Akiko Tanabe ◽  
Yasuyuki Fukai ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Systemic Treatment ◽  
Early Stage ◽  
Immunohistochemical Analysis ◽  
Pathological Examination ◽  
Anorectal Melanoma ◽  
Stage Iiic ◽  
Poorly Differentiated Adenocarcinoma ◽  
Poorly Differentiated ◽  
Tumor Node Metastasis Classification

We report two cases of rectal malignant melanomas. The patients were an 84-year-old male and a 66-year-old female who had blood in their stools. They were preoperatively diagnosed with poorly differentiated adenocarcinoma of the rectum. The clinical diagnosis for each was rectal carcinoma at stage IIIc according to the tumor-node-metastasis classification (6th edition), and the patients underwent abdominoperineal resection with dissection of lymph nodes. Pathological examination of the resected specimens revealed a malignant melanoma. Immunohistochemical analysis results were positive for HMB-45 and negative for cytokeratin AE1/AE3, CD45, and synaptophysin. Primary anorectal melanoma is an uncommon and aggressive disease that carries a poor prognosis. Therefore, it is necessary to provide systemic treatment. To improve prognosis, it is important to detect anorectal melanoma at an early stage.

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