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Cystic lymphatic malformations (LMs) are rare chronic conditions which management differs according to the type (macrocystic LMs, microcystic LMs or both). Studies are lacking due to rarity of the pathology. We aimed to establish a French National Diagnosis and Care Protocol (PNDS: Protocole National de Diagnostic et de Soins), to provide health professionals with free open access synthesis on optimal management and care of patients with LMs (https://www.has-sante.fr/upload/docs/application/pdf/2021-03/malformations%5flymphatiques%5fkystiques%5f-%5fpnds.pdf). The process included a critical review of the literature and multidisciplinary expert consensus. LMs are congenital but are not always discovered at birth. Nearly 75% of them are located in the head and neck because of the highly dense lymphatic system in this region. Physical examination (showing painless masses with normal skin color and depressible consistency, or cutaneous/mucosal lymphangiectasia) and color Doppler ultrasonography, usually allow for diagnosis. MRI (involving T2 sequences with fat saturation in at least two spatial planes) is the tool of choice for evaluating anatomical extension, characterizing lesions (microcystic and macrocystic), and before considering therapeutic management. A biopsy, coupled to a blood sample, can also be used for molecular biology analyses, to search for activating mutations of the PIK3CA gene, particularly with LM integrating in a syndromic form (CLOVES or Klippel-Trenaunay syndrome) but also in certain isolated (or common) LMs. The spontaneous evolution of LMs, in particular microcystic forms, is often toward progressive aggravation, with an increase in the number of vesicles, thickening, increased oozing and bleeding, while pure macrocystic LMs may regress due to "natural sclerosis", i.e. fibrosis secondary to an inflammatory reorganization after common infantile infections. In case of voluminous LMs or syndromic forms, functional and psychological repercussions can be major, deteriorating the patient's quality of life. LMs must be treated by physicians integrated in multidisciplinary teams, and be personalized. Management is a life-long process that involves one or several of these therapies: conservative management, physical therapy (compression), sclerotherapy, surgery, drugs such as mTOR inhibitors (sirolimus), that has shown efficacy in decreasing the volume of LMs, and, more recently, PI3K-inhibitors in syndromic forms. Psychological and social support is necessary, taking into account the patient and his family. [ABSTRACT FROM AUTHOR]

Intramuscular capillary-type haemangiomas (ICTH) are rare vascular anomalies that can easily be misdiagnosed as other entities. A systematic review was performed of all cases of ICTH in the literature since its first description in 1972. An adjudication committee reviewed cases to include only ICTHs. Among 1,143 reports screened, 43 were included, involving 75 patients. The most frequent differential diagnosis was intramuscular venous malformations. The mean age of patients at diagnosis was 21.2 years. ICTH was mainly described as a gradually increasing mass (81.8%), painless (73.9%), that could occur anywhere in the body but most frequently on the head and neck (44.0%). Magnetic resonance imaging (MRI) was mainly used for diagnosis (69.1%) and displayed specific features. The most frequent treatment was complete surgical removal (73.9%), which could be preceded by embolization, and led to complete remission without recurrence in all but 1 case. [ABSTRACT FROM AUTHOR]

Copyright of Sang Thrombose Vaisseaux is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

We retrospectively reviewed 35 patients with venous malformations located in the forearm and treated by surgery in a single institution during the period 2010–19. The common complaints were pain and swelling (34 patients) and impaired function with contractures of fingers (15 patients). Twenty-four had complete resection and 11 had an incomplete resection. Associated procedures were reconstruction or lengthening of tendons in 17 patients. At the last follow-up (mean 61 months), 32 of the 35 had no residual pain and 27 had no functional sequelae. On MRI follow-up exams, 27 had no residual venous malformations. Venous malformations in the anterior compartment of the forearm can impair the function of the hand. They are developed almost exclusively in the connective tissue around tendons and muscles, deforming the musculotendinous structures and involving nerves. Surgery seems an appropriate option for the condition in this area. Level of evidence: IV [ABSTRACT FROM AUTHOR]

Background. Our aim was to evaluate the benefit of surgical resection of the venous malformation (VM) of the external female genitalia. Methods. Over the period of 2009-2019, 18 consecutive females underwent surgical resection for vulvar VM. Evaluations included preoperative Doppler ultrasound, MRI, and pre-and postoperative photographic imaging. The main outcomes were: residual pain, cosmetic distortion, residual VM, and quality of life. Results. Over a 10 year periods, 18 females, mean age 35 years (range 9-71) were included in this study. All patients were symptomatic: 16 had intermittent pain or discomfort, 1 had bleeding and 2 requested cosmetic treatment. Of these cases, there were 5 isolated vulvar VM, 12 associated VM: 3 of the clitoral hood, 3 troncular pelvic vein insufficiency and 12 of the lower limb. Eight patients had undergone previous procedures: 2 sclerotherapy treatments (1 to 3 sessions), 4 partial surgical resections. There were 18 single resections in the vulva (7 focal, 11 complete), 2 partial resections in clitoral hood and 2 had resection of a VM in the peritoneo-vaginal canal at the same time. The mean follow-up was 42. 9 months (range 6-120). Two patients were lost to follow-up at 6 months. For all patients, elimination of pain and soft tissue redundancy was achieved. Two patients had persistent discomfort and 2 requested cosmetic treatment. Conclusion. Surgical resection of vulvar VM can be the best approach with few postoperative complications, good functional and cosmetic results. Appropriate preoperative evaluation is required to identify isolated VM or VM associated with ovarian vein or internal iliac vein insufficiency requiring to be treated before surgery. [ABSTRACT FROM AUTHOR]

Objectives: To report the outcomes of surgical treatment of calf intramuscular venous malformations (IMVMs) on pain, functional limitation, and quality of life. Methods: We retrospectively reviewed 57 consecutive patients who had surgery for IMVM of the posterior compartment of the leg between 2010 and 2015. Treatments were all done at a single institution. Results: Patients presented with pain (52), muscle contracture (14), or pulmonary embolism (4). Muscle involvement included the soleus muscle (n = 28, 49%), the gastrocnemius muscle (n = 25, 43%), and deep muscles (n = 4, 7%). Complete excision was possible in 52 patients (91%) and partial excision in 5 (9%). Thirty-five of 46 patients who had an MRI follow-up at six months had no residual venous malformation. At the final follow-up (mean 39 months), 32 of 40 patients seen had no residual pain and 37 had no residual functional impairment. Conclusion: In cases where IMVM is located in one muscle in the leg, we demonstrated that surgery yielded improvement in pain, function, and quality of life. [ABSTRACT FROM AUTHOR]

• Intramuscular capillary-type hemangioma (ICTH) is a rare and not well-known entity that predominantly affects young adults. • ICTH often presents as a gradually increasing painless mass, located in any skeletal muscle, most often in the head and neck muscles. • MRI features coupled with clinical presentation allows for a diagnosis of ICTH in typical forms. • A subgroup of ICTHs shares clinical and MRI features with arteriovenous malformations. Intramuscular capillary-type hemangiomas (ICTHs) are rare entities, belonging to the group of intramuscular "hemangiomas." The diagnosis remains challenging. We aimed to assess the diagnostic criteria, treatments and outcomes of ICTHs. This retrospective study collected all cases of ICTH followed up in 9 French hospital centers, reviewed by an adjudication expert group. Among 133 patients screened, 66 with ICTH were included. The median age of patients at diagnosis was 28.0 years, interquartile range (21.0–––36.0). The lesion, mainly presenting as a gradually increasing mass (83.9%), was painless (88.9%) and was located in the head and neck (42.4%). MRI (available in all cases) mainly revealed a well-delineated lesion, isointense to the muscle on T1-weighted images, with enhancement after contrast injection; hyperintense on T2-weighted images; and containing flow voids. Among the 66 cases, 59 exhibited typical ICTH features and 7 shared some imaging features with arteriovenous malformations. These latter were larger than typical ICTHs and more painful and appeared on imaging as less well delimited and more heterogeneous tissue masses, with larger tortuous afferent arteries, earlier draining vein opacification and mild arteriovenous shunting. We propose to name these lesions arteriovenous malformation (AVM)-like ICTH. Pathological reports were similar in typical and AVM-like ICTH, showing capillary proliferation with mainly small-size vessels, negative for GLUT-1 and positive for ERG, AML, CD31 and CD34, with low Ki67 proliferation index (<10%), and adipose tissue. The most frequent treatment for ICTH was complete surgical resection (17/47, 36.2%), preceded in some cases by embolization, which led to complete remission. ICTH can be diagnosed on MRI when it is typical. Biopsy or angiography are required for atypical forms. [ABSTRACT FROM AUTHOR]

Copyright of Sang Thrombose Vaisseaux is the property of John Libbey Eurotext Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Cystic lymphatic malformations (LMs) are rare chronic conditions which management differs according to the type (macrocystic LMs, microcystic LMs or both). Studies are lacking due to rarity of the pathology. We aimed to establish a French National Diagnosis and Care Protocol (PNDS: Protocole National de Diagnostic et de Soins), to provide health professionals with free open access synthesis on optimal management and care of patients with LMs (https://www.has-sante.fr/upload/docs/application/pdf/2021-03/malformations%5flymphatiques%5fkystiques%5f-%5fpnds.pdf). The process included a critical review of the literature and multidisciplinary expert consensus. LMs are congenital but are not always discovered at birth. Nearly 75% of them are located in the head and neck because of the highly dense lymphatic system in this region. Physical examination (showing painless masses with normal skin color and depressible consistency, or cutaneous/mucosal lymphangiectasia) and color Doppler ultrasonography, usually allow for diagnosis. MRI (involving T2 sequences with fat saturation in at least two spatial planes) is the tool of choice for evaluating anatomical extension, characterizing lesions (microcystic and macrocystic), and before considering therapeutic management. A biopsy, coupled to a blood sample, can also be used for molecular biology analyses, to search for activating mutations of the PIK3CA gene, particularly with LM integrating in a syndromic form (CLOVES or Klippel-Trenaunay syndrome) but also in certain isolated (or common) LMs. The spontaneous evolution of LMs, in particular microcystic forms, is often toward progressive aggravation, with an increase in the number of vesicles, thickening, increased oozing and bleeding, while pure macrocystic LMs may regress due to "natural sclerosis", i.e. fibrosis secondary to an inflammatory reorganization after common infantile infections. In case of voluminous LMs or syndromic forms, functional and psychological repercussions can be major, deteriorating the patient's quality of life. LMs must be treated by physicians integrated in multidisciplinary teams, and be personalized. Management is a life-long process that involves one or several of these therapies: conservative management, physical therapy (compression), sclerotherapy, surgery, drugs such as mTOR inhibitors (sirolimus), that has shown efficacy in decreasing the volume of LMs, and, more recently, PI3K-inhibitors in syndromic forms. Psychological and social support is necessary, taking into account the patient and his family. [ABSTRACT FROM AUTHOR]

Rationale Objectives Methods Results Conclusion Sirolimus is a treatment for slow‐flow vascular malformations (SFVMs). However, the long‐term management remains challenging.The SIROLO study assessed the long‐term effects and real‐life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.Participants were retrospectively included if they had a SFVM that was being/had been treated with sirolimus for at least 3 years in total. Data were collected on treatment goals when initiating sirolimus, investigator‐reported efficacy, safety, dosages and treatment withdrawal.The cohort involved 67 patients with various SFVM entities (mean [±SD] age 19.6 ± 12.5 years, 35 children, 52.2%). We found a heterogeneity of predefined treatment goals, the most frequent being cessation of pain. The investigators considered that sirolimus had persistent efficacy for bleeding, ulceration and pain but only slight efficacy for reducing volume. It was reported to be well‐tolerated, although serious adverse events (mainly infections and also two ovarian cysts) were reported in 6 patients (9.0%) and required definitive sirolimus discontinuation for one. Overall, 11 patients (16.4%) had at least one temporary withdrawal period, leading to symptom recurrence and sirolimus resumption at a mean of 6.4 ± 9.6 months. The mean sirolimus concentration was 6.4 ± 3.7 ng/mL during the first 6 months and decreased over time (mean concentration during the last 6 months: 4.2 ± 3.2 ng/mL), probably to target the minimal efficient dosage. Eight patients (11.9%) switched to alpelisib because of insufficient efficacy of sirolimus.This real‐life study gives answers to frequent questions patients and parents ask before sirolimus initiation for SFVMs, such as persistence of efficacy over time, long‐term side effects and time to recurrence in case of withdrawal. [ABSTRACT FROM AUTHOR]