Objective: The main objective of this study is to describe the clinical spectrum of CM-AVM syndrome as well as radiological and genetic findings.
Methods: This is a single-centre prospective observational study performed at Sydney Children's Hospital. Patients under the age of 18 years that presented to our paediatric dermatology clinic or vascular birthmark clinic between January 2015 and September 2020 with one or more geometric shaped pink/ red/ brown macule with a peripheral pallor characteristic of a high-flow vascular stain were included. Children subsequently diagnosed with other diagnosis or family members with CM-AVM syndrome were excluded.
Results: Sixty children were included, with two subsequently excluded. A third of patients (n = 22, 38%) presented with a single characteristic HFVS, whereas the remaining two thirds (n = 36; 62%) had multiple HFVS. In children with multiple HFVS, one notably larger HFVS was detected in the majority of children (n = 32, 88%). In 33 patients, a brain and spine MRI was performed, which detected a spine AVM in one symptomatic patient with sensorimotor deficits. No cerebral AVM or AVF was picked up in the cohort. A RASA 1 result was available for evaluation in 24, of which 16 (67%) were positive. An EPHB4 result was available in eight, two (25%) of which were positive.
Conclusions: One large HFVS often accompanied by multiple small HFVS can be seen in most patients. Despite of the lack of genetic confirmation of diagnosis in single lesions, this phenotype might be of interest and warrants further investigation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/ajd.13651 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel postzygotic mutation in a patient with Parkes Weber syndrome: A case report and literature review.
Clin Case Rep
November 2024
Department of Human Genetics University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald Greifswald Germany.
Key Clinical Message: Not only germline but also postzygotic mutations in the or genes can lead to capillary malformation-arteriovenous malformation (CM-AVM) syndrome. As it is not always possible to clinically distinguish between constitutional variants and postzygotic mosaicism, a sufficiently high sequencing depth must be used in genetic diagnostics to detect both.
Abstract: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome, with or without Parkes Weber syndrome, is a rare autosomal dominant disease caused by pathogenic or variants.
Second Report of the p.Leu874Pro Missense Variant in EPHB4 in a Family With Capillary Malformation-Arteriovenous Malformation Syndrome (CM-AVM) Syndrome.
Am J Med Genet A
October 2024
Department of Pediatrics, Division of Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is characterized by the presence of multiple small (1-2 cm in diameter) capillary malformations of the skin. This disorder has been described as two distinct entities: CM-AVM1 and CM-AVM2. The diagnosis of these disorders has been associated with pathogenic variants in the RASA1 gene for RASA1-CM-AVM, formerly known as CM-AVM1, and, more recently, the EPHB4 genes for EPHB4-CM-AVM, formerly known as CM-AVM2.
View Article and Find Full Text PDFCase report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.
Front Neurol
September 2024
Division of Pediatric Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Article Synopsis
- The RASopathies are a group of genetic syndromes caused by mutations in the RAS/MAPK signaling pathway, affecting conditions like neurofibromatosis type 1, Noonan syndrome, and others, often leading to similar symptoms due to abnormal cell growth.
- Epidermal nevus syndromes are characterized by skin nevi alongside other systemic issues, with recent findings indicating that mosaic RAS mutations may contribute to these conditions.
- A case study details a child's treatment with the MEK inhibitor selumetinib, demonstrating stabilization of nerve hypertrophy and improvement of skin lesions, highlighting the potential for targeted therapies beyond currently established uses for RASopathy-related symptoms.
5q14.3 Microdeletion Syndrome With Simultaneous Involvement of MEF2C and RASA1. Clinical Case and Review of the Literature.
Pediatr Dermatol
September 2024
Department of Dermatology, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Spain.
5q14.3 microdeletion syndrome is a rare condition involving multiple genes such as MEF2C and RASA1 and is potentially classified as a neurocutaneous syndrome. Deletion of the MEF2C gene accounts for the majority of clinical manifestations, including global developmental delay, intellectual disability, seizures, and behavioral disorders.
View Article and Find Full Text PDFAnother face of RASA1: Report of familial germline variant in RASA1 with dysmorphic features.
Am J Med Genet A
November 2024
Sección de Genética y Errores Congénitos del Metabolismo, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients.
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!