Objective: CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/scoliosis and spinal abnormalities) is a rare, complex overgrowth syndrome with serious morbidity. In this communication we studied the presence of central and thoracic phlebectasia in patients with CLOVES syndrome and its clinical implications.
Methods: We conducted a comprehensive search of our databases at Children's Hospital Boston over the last 10 years (1999-2008) for patients with CLOVES syndrome and central and thoracic phlebectasia. Medical records, clinical photographs, and imaging studies of varying modalities were reviewed.
Results: Review of the clinical data and imaging studies of 12 patients with CLOVES syndrome documented the presence of central and thoracic phlebectasia in 11 patients. Two patients had serious perioperative pulmonary embolism, and 1 died.
Conclusions: Central and thoracic phlebectasia in patients with CLOVES syndrome is common and increases the risk of pulmonary embolism. Aggressive prophylactic measures should be considered before major interventions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jtcvs.2010.04.023 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Oncogenic PIK3CA corrupts growth factor signaling specificity.
Mol Syst Biol
December 2024
Cell Signaling Laboratory, Department of Oncology, University College London Cancer Institute Paul O'Gorman Building, University College London, London, WC1E 6BT, UK.
Technical limitations have prevented understanding of how growth factor signals are encoded in distinct activity patterns of the phosphoinositide 3-kinase (PI3K)/AKT pathway, and how this is altered by oncogenic pathway mutations. We introduce a kinetic, single-cell framework for precise calculations of PI3K-specific information transfer for different growth factors. This features live-cell imaging of PI3K/AKT activity reporters and multiplexed CyTOF measurements of PI3K/AKT and RAS/ERK signaling markers over time.
View Article and Find Full Text PDFGenetic basis and imaging findings of neurofibromatosis 1 and other somatic overgrowth disorders.
Skeletal Radiol
September 2024
Norwich Medical School, University of East Anglia, Norwich Research Park, Norfolk, NR4 7TJ, UK.
Article Synopsis
- Somatic overgrowth disorders are rare conditions characterized by the abnormal enlargement of specific tissues, often related to the activation of the PI3K-AKT-mTOR signaling pathway, which is also implicated in cancer.
- Genetic variations can either enhance or inhibit this pathway, leading to excessive cell growth in particular areas, noted in disorders like CLOVES syndrome and Klippel-Trenaunay syndrome.
- Neurofibromatosis type 1 (NF1) involves faulty regulation of this pathway due to mutations in the NF1 gene, resulting in a range of growth abnormalities that can resemble other PIK3CA-related conditions, prompting a focus on their shared genetic and radiological features.
[Asymmetrical lower limbs].
Rev Med Interne
December 2024
Unité de médecine translationnelle et thérapies ciblées, hôpital Necker-Enfants-Malades, université Paris Cité, 149, rue de Sèvres, 75015 Paris, France.
SOLAMEN syndrome with cardiovascular damage.
Hereditas
July 2024
Department of Burn and Plastic Surgery, The Children's Hospital, National Clinical Research Center, Zhejiang University School of Medicine, Zhejiang Hangzhou, PR China.
Article Synopsis
- SOLAMEN syndrome is a rare congenital disorder marked by progressive, multi-system issues like overgrowth, lipomatosis, arteriovenous malformation (AVM), and epidermal nevus, primarily linked to a PTEN gene mutation.
- The syndrome’s symptoms can overlap with other conditions, making diagnosis tricky and often leading to misdiagnoses such as Klippel-Trenaunay or Parks-Weber syndromes.
- A specific case of a child with various symptoms including macrocephaly and significant AVM was documented; genetic sequencing confirmed a PTEN mutation and highlighted the need for regular health evaluations and potential treatments due to the risk of AVM progression and cardiac defects.
A cystic and bullous lung disease associated with a PIK3CA-related overgrowth syndrome.
ERJ Open Res
July 2024
Faculté de Médecine, Université de Paris Cité, Paris, France.
https://bit.ly/48GnoJy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!