Lobular capillary hemangioma, or pyogenic granuloma (PG), of the middle ear is exceedingly rare. We report a child with PG of the temporal bone that recurred once after gross total excision. Next-generation sequencing revealed a novel NRAS mutation in this lesion consisting of a codon 61 missense mutation, c.182A>G resulting in an amino acid substitution of the glutamine (Q) by an arginine (R), p.(Q61R). This is the first report of an NRAS mutation in a sporadic PG Our findings expand the mutation spectrum in this tumor and indicate that next-generation sequencing is a useful adjunct in establishing the diagnosis of PG in cases of unusual clinicopathologic presentation. Furthermore, the presence of NRAS mutation provides opportunities to develop targeted therapy for therapy-resistant tumors and tumors occurring in critical anatomic locations. This case is also unique as it represents the first report of PG involving the bone in a child.

Introduction: The International Society for the Study of Vascular Anomalies developed in 1996 a classification of vascular anomalies that became internationally accepted. The main feature was the division of vascular anomalies into 2 categories: vascular tumors and malformations. Major revisions occurred in 2014 and 2018, for updates and inclusion of newly described lesions. Major advances occurred in recent years, with improved understanding of genetic basis of vascular anomalies and its relevance in therapeutics. It created a demand for a new revision of the International Society for the Study of Vascular Anomalies (ISSVA) classification, and the process is presented in this study. Methods: A group was created in 2019, joining experts from different specialties and coordinated by the ISSVA Scientific Committee, to reevaluate the 2018 Classification on each subtype of vascular anomaly, considering the clinical presentation, histological subtypes, flow velocity, and genetic aspects. After several multidisciplinary online discussions and in-person meetings at ISSVA Congresses (2022, 2023, and 2024) the proposal for the new classification was presented for ISSVA members ratification, after an opening window for comments and suggestions. A new tool was created, named “Glossary of Vascular Anomalies,” along the contours of a medical dictionary. Results: A new layout of the classification was designed. The visualization begins with a general “Landing Page” where the basic division into vascular tumors and malformations is specified. For vascular tumors, the subdivision was kept between benign, borderline, and malignant tumors. For vascular malformations, the divisions were presented as fast-flow lesions, slow-flow lesions, and developmental anomalies of named vessels. A full classification table page with all updated modifications followed the landing page. All changes and new terms are described in detail and summarized in a table. The glossary lists and explains, in alphabetic order, all technical terms, abbreviations, acronyms, eponyms, genes, and syndromes related to vascular anomalies. Conclusions: The presented updated ISSVA classification of vascular anomalies reflects our evolving understanding of vascular anomalies, which will be continuously updated by a dedicated committee of ISSVA.

Objectives: Systemic beta-blockers are highly effective for the management of infantile hemangiomas (IH), but little is known about infants who do not adequately respond. We aimed to describe the characteristics and outcomes of suboptimal responders to standard-dose systemic beta-blockers in infants with IH. Methods: This is a multicenter retrospective cohort study to evaluate demographics, IH lesion characteristics, and treatment specifics of infants with IH with suboptimal response to baseline standard-dose propranolol treatment. Clinical response was used to assess the outcome after a therapeutic change. Results: Twenty-five infants were included in this study. Seven (28%) had segmental IH, 16 (64%) focal, and 2 (8%) indeterminate. The IHs were located on the head and neck in 21 (84%) infants, with 24 (96%) having a deep or combined component. Therapy changes after standard-dose propranolol treatment failure, most commonly by escalating propranolol dose to ≥2.5 mg/kg/d (59%) or surgical interventions (29%), were associated with good therapeutic effects. Conclusion: Among suboptimal responders to standard-dose systemic propranolol, IHs with a deep or combined component and located on the head and neck were the most common. This retrospective study was largely descriptive in nature with additional exploratory analyses. However, it is still encouraging that for patients with a suboptimal clinical response, higher propranolol doses of ≥2.5–3 mg/kg/d or second-line treatments with surgical interventions or systemic steroids can be considered as potentially safe and effective alternatives. Level of evidence: Level 4 (case series).

Lobular capillary hemangioma, or pyogenic granuloma (PG), of the middle ear is exceedingly rare. We report a child with PG of the temporal bone that recurred once after gross total excision. Next-generation sequencing revealed a novel NRAS mutation in this lesion consisting of a codon 61 missense mutation, c.182A>G resulting in an amino acid substitution of the glutamine (Q) by an arginine (R), p.(Q61R). This is the first report of an NRAS mutation in a sporadic PG Our findings expand the mutation spectrum in this tumor and indicate that next-generation sequencing is a useful adjunct in establishing the diagnosis of PG in cases of unusual clinicopathologic presentation. Furthermore, the presence of NRAS mutation provides opportunities to develop targeted therapy for therapy-resistant tumors and tumors occurring in critical anatomic locations. This case is also unique as it represents the first report of PG involving the bone in a child.

Introduction: The International Society for the Study of Vascular Anomalies developed in 1996 a classification of vascular anomalies that became internationally accepted. The main feature was the division of vascular anomalies into 2 categories: vascular tumors and malformations. Major revisions occurred in 2014 and 2018, for updates and inclusion of newly described lesions. Major advances occurred in recent years, with improved understanding of genetic basis of vascular anomalies and its relevance in therapeutics. It created a demand for a new revision of the International Society for the Study of Vascular Anomalies (ISSVA) classification, and the process is presented in this study. Methods: A group was created in 2019, joining experts from different specialties and coordinated by the ISSVA Scientific Committee, to reevaluate the 2018 Classification on each subtype of vascular anomaly, considering the clinical presentation, histological subtypes, flow velocity, and genetic aspects. After several multidisciplinary online discussions and in-person meetings at ISSVA Congresses (2022, 2023, and 2024) the proposal for the new classification was presented for ISSVA members ratification, after an opening window for comments and suggestions. A new tool was created, named “Glossary of Vascular Anomalies,” along the contours of a medical dictionary. Results: A new layout of the classification was designed. The visualization begins with a general “Landing Page” where the basic division into vascular tumors and malformations is specified. For vascular tumors, the subdivision was kept between benign, borderline, and malignant tumors. For vascular malformations, the divisions were presented as fast-flow lesions, slow-flow lesions, and developmental anomalies of named vessels. A full classification table page with all updated modifications followed the landing page. All changes and new terms are described in detail and summarized in a table. The glossary lists and explains, in alphabetic order, all technical terms, abbreviations, acronyms, eponyms, genes, and syndromes related to vascular anomalies. Conclusions: The presented updated ISSVA classification of vascular anomalies reflects our evolving understanding of vascular anomalies, which will be continuously updated by a dedicated committee of ISSVA.

Objectives: Systemic beta-blockers are highly effective for the management of infantile hemangiomas (IH), but little is known about infants who do not adequately respond. We aimed to describe the characteristics and outcomes of suboptimal responders to standard-dose systemic beta-blockers in infants with IH. Methods: This is a multicenter retrospective cohort study to evaluate demographics, IH lesion characteristics, and treatment specifics of infants with IH with suboptimal response to baseline standard-dose propranolol treatment. Clinical response was used to assess the outcome after a therapeutic change. Results: Twenty-five infants were included in this study. Seven (28%) had segmental IH, 16 (64%) focal, and 2 (8%) indeterminate. The IHs were located on the head and neck in 21 (84%) infants, with 24 (96%) having a deep or combined component. Therapy changes after standard-dose propranolol treatment failure, most commonly by escalating propranolol dose to ≥2.5 mg/kg/d (59%) or surgical interventions (29%), were associated with good therapeutic effects. Conclusion: Among suboptimal responders to standard-dose systemic propranolol, IHs with a deep or combined component and located on the head and neck were the most common. This retrospective study was largely descriptive in nature with additional exploratory analyses. However, it is still encouraging that for patients with a suboptimal clinical response, higher propranolol doses of ≥2.5–3 mg/kg/d or second-line treatments with surgical interventions or systemic steroids can be considered as potentially safe and effective alternatives. Level of evidence: Level 4 (case series).

Bleomycin and aethoxysclerol are commonly used sclerosing agents for treating lymphatic malformations. This case report describes a serious adverse event in an infant who developed transient electrocardiogram abnormalities, tachycardia, hypotension, elevated cardiac enzymes, and reduced biventricular function after the second administration of bleomycin combined with aethoxysclerol and alcohol. These findings suggest direct cardiotoxicity, which has not been previously reported in such a young infant. This case underscores the need for close monitoring after sclerotherapy, even if no complications occur after the first treatment, and emphasizes the importance of weighing the risks and benefits of using multiple sclerosing agents in this vulnerable population.

Objective: VASCERN (https://vascern.eu/) is the European Reference Network for Rare Multisystemic Vascular Diseases. VASCERN-VASCA is the working group within VASCERN that focuses on the study of vascular anomalies. One of the objectives of this group…

Background: Reconstructing sites postvascular anomaly excision, particularly in high-tension areas or large excision zones, is challenging and often requires full-thickness grafts or flaps. The consideration of long-term scar outcomes, especially in…

Objective: Idiopathic chylous leak (ICL) is defined by the accumulation of chyle in the pleural or peritoneal space, for which there is no underlying etiology. Given the low incidence and heterogeneity of presentation, evaluation, and management…

No abstract available

Objective: To investigate and describe methods of pain management employed by patients at a vascular anomalies clinic (VAC) with the intent to add relevant information on this important topic. Methods: Patients evaluated from 2011 to 2023 at the VAC…

Objective: VASCERN (https://vascern.eu/) is the European Reference Network for Rare Multisystemic Vascular Diseases. VASCERN-VASCA is the working group within VASCERN that focuses on the study of vascular anomalies. One of the objectives of this group…

Background: Reconstructing sites postvascular anomaly excision, particularly in high-tension areas or large excision zones, is challenging and often requires full-thickness grafts or flaps. The consideration of long-term scar outcomes, especially in…

Objective: Idiopathic chylous leak (ICL) is defined by the accumulation of chyle in the pleural or peritoneal space, for which there is no underlying etiology. Given the low incidence and heterogeneity of presentation, evaluation, and management…

No abstract available

Objective: To investigate and describe methods of pain management employed by patients at a vascular anomalies clinic (VAC) with the intent to add relevant information on this important topic. Methods: Patients evaluated from 2011 to 2023 at the VAC…

Objectives: The objective of this Phase 2 study was to determine the safety and efficacy of QTORIN rapamycin 3.9% anhydrous gel for the treatment of cutaneous microcystic lymphatic malformations (LM). Design: The study was a multicenter,…

Objectives: The objective of this Phase 2 study was to determine the safety and efficacy of QTORIN rapamycin 3.9% anhydrous gel for the treatment of cutaneous microcystic lymphatic malformations (LM). Design: The study was a multicenter,…