Genotypes and phenotypes of capillary malformation-arteriovenous malformation: characterization and correlation analysis.

BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) is a rare genetic disorder characterized by multiple small capillary malformations (CMs) and arteriovenous malformations (AVMs), which has been linked with pathogenic variants in RASA1 and EPHB4. However, more data are needed to explore the phenotypic characteristics and the association between genotypes and clinical phenotypes. OBJECTIVES: Our aim was to investigate the phenotypic and genetic characteristics of CM-AVM in East Asians, identify potential unique phenotypes, and conduct genotype-phenotype association analyses. METHODS: This is a single-center study prospectively collecting CM-AVM patients' clinical data, with genetic data from blood or tissue samples. RESULTS: A total of 59 patients were enrolled. Thirty-two individuals had a leading CM greater than Schobinger stage II. The trigeminal nerve branches and greater auricular, transverse cervical, and lesser occipital nerves' somatosensory innervation zones divided head and neck CMs into six zones: V1, V2, V3, GA, TC, and LO zones. GA, TC, and LO zones had a positive correlation with one another but a negative correlation with V2 zone involvement. The RASA1 and EPHB4 pathogenic variants were detected in 41 out of 59, which showed two types of variant allele frequency (VAF) distributions. VAF above 30% made RASA1 pathogenic variants more susceptible to multifocal CMs than those below 30%. CONCLUSIONS: Leading CMs in the head and neck exhibit two segmentation patterns, anterior and lateral, which may differ in ear involvement and progression. Germline RASA1 pathogenic variants increased multifocal CM risk more than the somatic variants.

Ethanol Embolotherapy for Cutaneous Erythema of High-Flow Vascular Malformations in the Head and Neck.

BACKGROUND: Cutaneous erythema is one of the most common signs of arteriovenous malformations (AVMs) in the head and neck region, influencing aesthetic appearance. Surgical resection of AVMs may lead to cicatrization of the skin or aggravation of the lesion. Laser treatment, although effective in improving superficial vascular lesions, cannot prevent deep AVMs from further development. OBJECTIVE: The authors propose an absolute ethanol embolization therapy that can effectively and safely eradicate the nidus with a favorable aesthetic outcome. METHODS: The authors conducted a retrospective observational study of 14 AVM patients with distinct cutaneous erythema in the head and neck region undergoing embolotherapy in a single primary care center. Symptoms before and after treatment, complications, and degree of devascularization were recorded and assessed. Changes in cutaneous redness were evaluated using a previously reported quantitative measurement. RESULTS: Complete symptomatic relief was observed in 5 patients, and major improvement was observed in 9 patients. The mean Δ a * value of the color change had a significant reduction of 6.50 ± 4.04, p < .001, indicating a remarkable remission of cutaneous erythema. CONCLUSION: Ethanol embolization is an effective and safe treatment for head and neck AVMs with excellent aesthetic outcomes and might become a potential treatment method for other superficial vascular anomalies.

Facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations caused by nonhotspot phosphatidylinositol 3-kinase catalytic subunit alpha mutation.

We report an unusual case of facial infiltrating lipomatosis with hemimegalencephaly and lymphatic malformations. In addition to the clinical data and imaging findings, detection of a heterozygous PIK3CA nonhotspot known pathogenic variant C420R in a facial epidermal nevus provided novel insight into the pathogenic effect of somatic PIK3CA mutations.

Treatment of Challenging Extracranial Arteriovenous Malformations: A Single-Center Experience and Literature Review.

ABSTRACT: Extracranial arteriovenous malformation (AVM) is a high-flow congenital vascular malformation, where direct communication between the arteries and veins impedes perfusion of capillary beds and causes disfigurement of the affected tissue. Surgery and endovascular therapy are currently the main treatment for extracranial AVMs. Nevertheless, management of complex cases is sometimes challenging because of severe complications such as refractory ulceration, life-threatening bleeding, and even cardiac insufficiency. Here, we reviewed the development and potential treatment for extracranial AVMs and shared our single-center experiences of diagnosis and treatment of this challenging disease.