Leopard syndrome

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BACKGROUND AND OBJECTIVES: Endocrine complications have been described in patients affected by RASopathies but no systematic assessment has been reported. In this study, we investigate the prevalence of endocrine disorders in a consecutive unselected cohort of patients with RASopathies. STUDY DESIGN: 72 patients with a genetically confirmed RASopathy (Noonan syndrome [NS], N=53; 29 LEOPARD syndrome [LS], N=2; cardiofaciocutaneous syndrome [CFCS], N=14; subjects showing co-occurring pathogenic variants in PTPN11 and NF1 , N=3) and an age- and sex-matched healthy controls were included in the study...

A 12-year-old boy presented to the hospital because of poor vision for half a year. Examination revealed nystagmus in both eyes. Examination of the anterior segment of both eyes showed no obvious abnormalities, and the vitreous bodies of both eyes were concentrated and agglutinated. Fundus showed clear boundary of optic disc, pale white, leopard striated retina, and characteristic atrophy of pigment epithelium, choroid, and macular atrophy. Knobloch syndrome was confirmed by multimodal imaging and genetic testing...

RASopathies comprise a group of clinically overlapping developmental disorders caused by genetic variations affecting components or modulators of the RAS-MAPK signaling cascade, which lead to dysregulation of signal flow through this pathway. Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan syndrome-like disorder with loose anagen hair are part of the RASopathy spectrum and share a recognizable pattern of multisystem involvement...

Tissue fragility, skin hyperextensibility and joint hypermobility are defining characteristics of Ehlers-Danlos syndrome (EDS). Human EDS is subclassified into fourteen types including dermatosparactic EDS, characterized by extreme skin fragility and caused by biallelic ADAMTS2 mutations. We report two novel, ADAMTS2 variants in DNA from EDS-affected dogs. Separate whole-genome sequences from a Pit Bull Terrier and an Alapaha Blue Blood Bulldog each contained a rare, homozygous variant (11:2280117delC, CanFam3...

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset autoinflammatory disease caused by somatic UBA1 mutations first described in 2020. Most of these patients met clinical criteria for an inflammatory syndrome (relapsing polychondritis, Sweet syndrome, polyarteritis nodosa, or giant-cell arteritis) or a hematologic condition (myelodysplastic syndrome or multiple myeloma) or both. We described here an FDG PET/CT "leopard man" appearance, with abnormal marrow recruitment the findings, in a 70-year-old man diagnosed with a VEXAS syndrome...

Background: The PTPN11 gene, located at 12q24. 13, encodes protein tyrosine phosphatase 2C. Mutations in the PTPN11 gene can lead to various phenotypes, including Noonan syndrome and LEOPARD syndrome. The SEC24D gene is located at 4q26 and encodes a component of the COPII complex, and is closely related to endoplasmic reticulum protein transport. Mutations in SEC24D can lead to Cole-Carpenter syndrome-2. To date, dual mutations in these two genes have not been reported in the literature...

We describe the case of a 5-year-old girl with genetically confirmed LEOPARD syndrome (LS) who presented with multiple lentigines, ocular hypertelorism, retardation of growth, myocardial hypertrophy, and diffuse coronary artery dilatation. This case highlights the importance of multimodality imaging for the assessment of LS-associated cardiovascular alterations and follow-up. ( Level of Difficulty: Intermediate. ).

Various cardiac disorders seen in general and acute medicine have dermatological manifestations that may provide critical clues to the underlying disease. This review will discuss the important dermatological signs seen in cardiac conditions. We believe greater interdisciplinary liaison will improve our understanding of the link between the dermatological and cardiovascular systems and the underlying disease processes.

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic syndrome. Diagnosis can be difficult and treatment guidelines are ill-defined. A 73-year-old man with poorly differentiated high grade urothelial carcinoma of the ureter metastatic to the liver, lungs, lymph nodes, and pelvis treated with chemotherapy and immunotherapy reported gradual vision loss. Optical coherence tomography (OCT) demonstrated intraretinal and subretinal fluid with hyperreflective subretinal deposits and focal, deeply pigmented choroidal lesions...

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is one of seven coronaviruses known to infect humans. Different from other concerned coronavirus and influenza viruses, SARS-CoV-2 has a higher basic reproduction number and thus transmits more efficiently among hosts. Testing animals for SARS-CoV-2 may help decipher virus reservoirs, transmission and pathogenesis. Here, we report the first detection of SARS-CoV-2 in three snow leopards (Panthera uncia) in a zoo in Kentucky in 2020, the first year of the pandemic...

The severe acute respiratory syndrome-related coronavirus 2 (SARS-CoV-2) has spread globally and has led to extremely high mortality rates. In addition to infecting humans, this virus also has infected animals. Experimental studies and natural infections showed that dogs have a low susceptibility to SARS-CoV-2 infection, whereas domesticated cats and other animals in the family Felidae, such as lions, tigers, snow leopards, and cougars, have a high susceptibility to viral infections. In addition, wild white-tailed deer, gorillas, and otters have been found to be infected by SARS-CoV-2...

The RASopathies are a group of genetic diseases in which the Ras/MAPK signaling pathway is inappropriately activated as a result of mutations in genes encoding proteins within this pathway. As their causative mutations have been identified, this group of diseases has expanded to include neurofibromatosis type 1 (NF1), Legius syndrome, Noonan syndrome, CBL syndrome, Noonan syndrome-like disorder with loose anagen hair, Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, gingival fibromatosis and capillary malformation-arteriovenous malformation syndrome...

Bilateral diffuse uveal melanocytic proliferation (BDUMP) is a rare paraneoplastic intraocular syndrome that causes progressive visual loss in patients driven by an IgG factor associated with an underlying malignancy. The IgG factor - cultured melanocyte elongation and proliferation - was found in the IgG fraction of the serum of BDUMP patients. It has been shown to be involved in melanocytic proliferation. In this case report, we describe the first case of BDUMP related to metastatic cutaneous squamous cell carcinoma (cSCC) of the scalp...

The Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) showed susceptibility to diverse animal species. We conducted this study to understand the spatial epidemiology, genetic diversity, and statistically significant genetic similarity along with per-gene recombination events of SARS-CoV-2 and related viruses (SC2r-CoVs) in animals globally. We collected a number of different animal species infected with SARS-CoV-2 and its related viruses. Then, we retrieved genome sequences of SARS-CoV-2 and SC2r-CoVs from GISAID and NCBI GenBank for genomic and mutational analysis...

BACKGROUND AND OBJECTIVES: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), besides causing human infection, has been shown to naturally infect several susceptible animal species including large cats (tigers, lions, pumas, spotted leopards), dogs, cats, ferrets, gorillas and minks. Cats and minks are continuing to be the most reported species with SARS-CoV-2 infections among animals but it needs to be investigated further. METHODS AND RESULTS: We report the detection of SARS-CoV-2 from a domestic cat that exhibited respiratory disease after being exposed to SARS-CoV-2 virus from humans in the same household...

The recent coronavirus disease (COVID-19) outbreak is one of its kind in the history of public health that has created a major global threat. The causative agent, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has a zoonotic source and hence, reverse zoonosis (disease transmission from humans to animals) increases the risk and rate of SARS-CoV-2 infection. Serological and molecular analyses and experimental infection studies have identified SARS-CoV-2 infection in several animal species in various countries...

PURPOSE: The demonstration of a rare case of bilateral diffuse uveal melanocytic proliferation (BDUMP) due to a lung carcinoma with unusual dermal lesions. CASE DESCRIPTION: A 76-year-old man with painless bilateral vision loss revealed leopard or giraffe spot chorioretinopathy and bilateral serous retinal detachment. Ultrasound biomicroscopy revealed uveal swelling expanding into the anterior chamber angle. Dermal and mucosal lesions were present on the lip, breast, groin, scrotum, and penis...

No abstract text is available yet for this article.

Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has already affected millions worldwide. The emergence of multiple SARS-CoV-2 variants may pose a significant threat to our efforts in controlling the pandemic. The impact of SARS-CoV-2 variants on the efficacy of available vaccines, therapeutics, and diagnostics is currently being investigated. SARS-CoV-2 has been implicated to be originated from animals due to cross-species jumping and raises zoonotic concerns due to the potential for reintroduction into the human populations via interspecies transmission between humans and animals...