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In the individual stepped-wedge randomized trial (ISW-RT), subjects are allocated to sequences, each sequence being defined by a control period followed by an experimental period. The total follow-up time is the same for all sequences, but the duration of the control and experimental periods varies among sequences. To our knowledge, there is no validated sample size calculation formula for ISW-RTs unlike stepped-wedge cluster randomized trials (SW-CRTs). The objective of this study was to adapt the formula used for SW-CRTs to the case of individual randomization and to validate this adaptation using a Monte Carlo simulation study. The proposed sample size calculation formula for an ISW-RT design yielded satisfactory empirical power for most scenarios except scenarios with operating characteristic values near the boundary (i.e., smallest possible number of periods, very high or very low autocorrelation coefficient). Overall, the results provide useful insights into the sample size calculation for ISW-RTs.
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Método de Montecarlo , Ensayos Clínicos Controlados Aleatorios como Asunto , Tamaño de la Muestra , Humanos , Biometría/métodosAsunto(s)
Fosfatidilinositol 3-Quinasa Clase Ia , Fenotipo , Humanos , Femenino , Masculino , Fosfatidilinositol 3-Quinasa Clase Ia/genética , Fosfatidilinositol 3-Quinasas/genética , Niño , Adolescente , Síndrome , Preescolar , Adulto , Malformaciones Vasculares/genética , Malformaciones Vasculares/patología , Malformaciones Vasculares/diagnóstico , Mutación , LactanteRESUMEN
AIM: To evaluate the knowledge, practices and self-confidence of community pharmacists, pharmacy technicians and pharmacy students about infantile haemangioma (IH) and propranolol treatment. METHODS: A national survey was conducted in France from May 2022 to October 2022. A 42-item online questionnaire was used to assess pharmacists' knowledge of the epidemiology, clinical features and management of IH and propranolol treatment. RESULTS: The survey included 255 participants. The mean age was 34.9 years (±9.0); 225 (88%) were women. In all, 193 (76%) practised in urban pharmacies. Altogether, 83 participants (33%) had delivered oral propranolol solution for IH in the last 6 months. Participants' median score for self-confidence regarding propranolol dispensing was five (interquartile range, 2.5-6) on a scale of 1 to 10. Overall, 96 (38%) had more than 50% correct answers on the questionnaire. Multinomial regression models showed high scores on the questionnaire associated with high self-confidence when delivering oral propranolol solution, low number of years since graduation and having already delivered propranolol treatment. CONCLUSION: This study highlights a lack of knowledge of IH and modalities of propranolol treatment by community pharmacists and slight self-confidence when delivering propranolol. Greater cooperation between healthcare professionals could improve the proper use of medicine.
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Hemangioma , Propranolol , Humanos , Femenino , Adulto , Masculino , Propranolol/uso terapéutico , Farmacéuticos , Encuestas y Cuestionarios , Personal de Salud , Hemangioma/tratamiento farmacológicoRESUMEN
BACKGROUND: Vascular anomalies (VAs) are increasingly being treated with PI3K/AKT/mTOR pathway inhibitors. These drugs have immunosuppressive properties and thus theoretically overexpose patients to opportunistic infections, especially Pneumocystis jirovecii pneumonia (PJP). PJP prophylaxis use lacks consensus. We aimed to investigate the prevalence of PJP in patients receiving mTOR/PI3K/AKT inhibitors for VAs and determine any indication for pneumocystis prophylaxis in this population. METHODS: The study was conducted in 2 parts: (1) we sent a survey to a panel of international experts of VAs asking about their use of pneumocystis prophylaxis drugs and (2) we performed a systematic review of the literature of all published cases of patients receiving these drugs for VA to estimate the prevalence of PJP in this population. RESULTS: Answers from 68 experts were analyzed: 21 (30.9%) answered they always add PJP prophylaxis when prescribing mTOR inhibitors, 20 (29.4%) case-by-case, and 27 (39.7%) never. For the systematic review, among 3,053 reports screened, 217 were included involving 1,189 patients (1,143 received sirolimus, 38 everolimus, 4 alpelisib, 4 miransertib). Among the 1,189 cases, 2 (0.2%) PJP were reported: one under sirolimus and one under everolimus. Thus, the prevalence of PJP was estimated at 0.88 cases/1,000 patients under sirolimus (95% CI: -0.84 to 2.59) and 26.31 cases/1,000 under everolimus (95% CI: -24.58 to 77.18). Patients with PJP never received prophylaxis drugs. We found no PJP cases under alpelisib and miransertib. PJP prophylaxis was given in 218 (18.3%) cases, more frequently for children (91.3 vs. 77.2% in the non-prophylaxis group, p = 0.012), mostly trimethoprim-sulfamethoxazole (186 patients, 85.3%). CONCLUSION: Our study shows that even if PJP is a rare event, it may occur in patients with VAs treated with an mTOR inhibitor. Although our results cannot allow for revising guidelines, prophylaxis with TMP-SMX might be appropriate for a subgroup of patients with risk factors for PJP.
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Pneumocystis carinii , Pneumocystis , Neumonía por Pneumocystis , Niño , Humanos , Everolimus/uso terapéutico , Huésped Inmunocomprometido , Inhibidores mTOR , Fosfatidilinositol 3-Quinasas/metabolismo , Neumonía por Pneumocystis/prevención & control , Neumonía por Pneumocystis/tratamiento farmacológico , Neumonía por Pneumocystis/etiología , Proteínas Proto-Oncogénicas c-akt/metabolismo , Estudios Retrospectivos , Serina-Treonina Quinasas TOR , Combinación Trimetoprim y Sulfametoxazol/efectos adversosRESUMEN
The PIK3CA-related overgrowth spectrum (PROS) encompasses various conditions caused by mosaic activating PIK3CA variants. PIK3CA somatic variants are also involved in various cancer types. Some generalized overgrowth syndromes are associated with an increased risk of Wilms tumor (WT). In PROS, abdominal ultrasound surveillance has been advocated to detect WT. We aimed to determine the risk of embryonic and other types of tumors in patients with PROS in order to evaluate surveillance relevance. We searched the clinical charts from 267 PROS patients for the diagnosis of cancer, and reviewed the medical literature for the risk of cancer. In our cohort, six patients developed a cancer (2.2%), and Kaplan Meier analyses estimated cumulative probabilities of cancer occurrence at 45 years of age was 5.6% (95% CI = 1.35%-21.8%). The presence of the PIK3CA variant was only confirmed in two out of four tumor samples. In the literature and our cohort, six cases of Wilms tumor/nephrogenic rests (0.12%) and four cases of other cancers have been reported out of 483 proven PIK3CA patients, in particular the p.(His1047Leu/Arg) variant. The risk of WT in PROS being lower than 5%, this is insufficient evidence to recommend routine abdominal imaging. Long-term follow-up studies are needed to evaluate the risk of other cancer types, as well as the relationship with the extent of tissue mosaicism and the presence or not of the variant in the tumor samples.
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Neoplasias Renales , Tumor de Wilms , Humanos , Mutación , Detección Precoz del Cáncer , Trastornos del Crecimiento/diagnóstico , Tumor de Wilms/diagnóstico , Tumor de Wilms/epidemiología , Tumor de Wilms/genética , Fosfatidilinositol 3-Quinasa Clase I/genéticaRESUMEN
BACKGROUND: Rare superficial vascular anomalies represent a wide range of diseases. Their management is difficult given the broad spectrum and the lack of clinical trials assessing treatment efficacy. A randomized clinical trial of vascular anomalies is difficult because of the rarity of the diseases and is enhanced by the population of interest often being children. Therefore, suitable designs are needed. We conducted a methodological systematic literature search to identify designs implemented for investigating the treatment of rare superficial vascular anomalies. METHODS: We conducted a literature search on January 25, 2021, of the PubMed, Cochrane Central Register of Controlled Trials (CENTRAL), Embase, ClinicalTrials.gov and European Union Clinical Trials Register databases. This systematic methodological literature search was registered at the Prospective Register of Systematic Reviews (PROSPERO: CRD42021232449). Randomized and non-randomized studies were included if they met the following criteria: were prospective studies of rare superficial vascular anomaly therapies, dealt with humans (adults and children) and were published in English from 2000. We excluded case reports/case series reporting fewer than 10 patients, reviews, retrospective studies, animal studies, studies of systemic or common vascular anomalies and non-therapeutic studies. We did not assess risk of bias in the included studies because our review was a methodological one focused on the design used. The review provided a descriptive analysis of relevant features of eligible research studies. RESULTS: From 2046 articles identified, we included 97 studies (62 reports and 35 ongoing studies): 25 randomized controlled studies, 7 non-randomized comparative studies, 64 prospective cohorts and 1 case series. Among the 32 comparative studies included, 21 used a parallel-group design. The 11 other studies used different designs such as cross-over, randomized placebo phase, delayed-start, within-person, or challenge-dechallenge-rechallenge or used a historical control group or an observational run-in period. CONCLUSIONS: Our systematic literature search highlights the lack of randomized control trials in superficial vascular anomalies due to the rarity of patients and their heterogeneity. New designs are emerging and can overcome the limitations of testing treatments in parallel groups.
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Estudios Prospectivos , Adulto , Animales , Niño , Humanos , Estudios Retrospectivos , Revisiones Sistemáticas como Asunto , Grupos Control , Bases de Datos Factuales , Ensayos Clínicos Controlados Aleatorios como AsuntoRESUMEN
The purpose of the study is to highlight clinical signs that are either suggestive of or against the diagnosis of AHEI to improve diagnosis and management. The medical records of children under 3 years old diagnosed with AHEI were retrospectively reviewed. Clinical data and photographs were reviewed by three independent experts, and the cases were classified as probable, doubtful, or unclear AHEI. Of the 69 cases of children diagnosed with AHEI included in 22 centers, 40 were classified as probable, 22 as doubtful, and 7 as unclear. The median age of patients with probable AHEI was 11 months [IQR 9-15], and they were in overall good condition (n = 33/40, 82.5%). The morphology of the purpura was targetoid in 75% of cases (n = 30/40) and ecchymotic in 70% of cases (n = 28/40) and affected mostly the legs (n = 39/40, 97%), the arms (n = 34/40, 85%), and the face (n = 33/40, 82.5%). Edema was observed in 95% of cases and affected mostly the hands (n = 36/38, 95%) and feet (n = 28/38, 74%). Pruritus was absent in all patients with probable AHEI and described for 6/21 with doubtful AHEI (29%). AHEI was the original diagnosis in only 24 patients (n = 24/40, 60%). The major differential diagnoses were purpura fulminans and urticaria multiforme. Conclusion: AHEI, which the diagnosis is made on clinical findings, is often misdiagnosed. Purpuric lesions localized on the face/ears, arms/forearms, and thighs/legs with edema of the hands without pruritus in a young child with a good overall condition are highly suggestive of AHEI. What is Known: â¢Acute hemorrhagic edema of infancy (AHEI) is a cutaneous leukocytoclastic vasculitis affecting children under 3 years old. â¢Appropriate diagnosis is important to distinguish this benign disease from more serious diseases to avoid investigations and treatments, iatrogenic harm and unnecessary follow-up. What is New: â¢AHEI is an uncommon disorder often misdiagnosed by pediatricians and dermatologists. â¢Purpuric lesions localized on the face/ears, arms/forearms, and thighs/legs with edema of the hands without pruritus in an infant with a good overall condition are highly suggestive of AHEI.
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BACKGROUND: Palmoplantar plaque psoriasis is a frequent clinical subtype of childhood psoriasis. This study evaluated the effectiveness of biologic therapies in children with palmoplantar plaque psoriasis using data from the two Biological treatments for Pediatric Psoriasis (BiPe) cohorts. METHODS: Data for all 170 patients included in the BiPe cohorts were analyzed. Data on the effectiveness (PGA, PASI between baseline and 3 months of treatment) of biologic therapies were then compared between children with palmoplantar plaque psoriasis (n = 20) and those with generalized plaque psoriasis (n = 136). Clinical and demographic data were also analyzed. RESULTS: Children in the palmoplantar group were more likely to be male (p = .04), with an earlier age of psoriasis onset (p < .001), and more frequent nail involvement (p < .001). After 3 months of biologic treatment, mean PGA scores were higher in the palmoplantar group than in the generalized plaque psoriasis group (p = .004). In the palmoplantar group, continuation rates were higher for adalimumab than for etanercept or ustekinumab (p = .01). Primary inefficacy was a more frequent reason for stopping biologic therapies in the palmoplantar group (p = .01), and disease remission was less frequent (p = .05). Combined systemic and biologic therapies were more frequently used in palmoplantar plaque psoriasis (p < .001). CONCLUSIONS: This study demonstrated the treatment-resistant nature of palmoplantar plaque psoriasis and indicated that adalimumab could be the most effective biologic treatment. Larger studies are needed to allow therapeutic algorithms for palmoplantar plaque psoriasis to be proposed in pediatric psoriasis management guidelines.
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Productos Biológicos , Psoriasis , Humanos , Masculino , Niño , Femenino , Adalimumab/uso terapéutico , Psoriasis/tratamiento farmacológico , Etanercept/uso terapéutico , Ustekinumab/uso terapéutico , Terapia Biológica , Resultado del Tratamiento , Productos Biológicos/uso terapéutico , Índice de Severidad de la EnfermedadRESUMEN
PURPOSE: 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. METHODS: This retrospective study collected all cases of ICTH followed up in 9 French hospital centers, reviewed by an adjudication expert group. RESULTS: 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. CONCLUSIONS: ICTH can be diagnosed on MRI when it is typical. Biopsy or angiography are required for atypical forms.
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Malformaciones Arteriovenosas , Hemangioma , Humanos , Adulto , Estudios Retrospectivos , Hemangioma/diagnóstico por imagen , Hemangioma/terapia , Imagen por Resonancia Magnética , Cuello/patologíaRESUMEN
The human skin barrier is structurally and functionally immature at birth, with elevated skin surface pH, lower lipid content, and lower resistance to chemicals and pathogens. Infants at risk for atopic dermatitis (AD) may present with xerosis almost immediately after birth. The current algorithm on skincare for newborns and infants aims to promote a healthy skin barrier and potential mitigation of AD. The project used a modified Delphi hybrid process comprising face-to-face discussions followed by an online follow-up replacing a questionnaire. During the meeting, a panel of eight clinicians who treat newborns and infants discussed the systematic literature review results and a draft algorithm addressing non-prescription skincare for neonates and infants. Online the panel reviewed and adopted the algorithm using evidence coupled with the panel's expert opinion and clinical experience. The algorithm provides clinical information for pediatric dermatologists, dermatologists, and pediatric healthcare providers treating neonates and infants. The advisors adopted a scale based on clinical signs for the algorithm: 1) scaling/xerosis; 2) erythema; and 3) erosion/oozing. Skincare for newborns and infants includes: aim for a cool environment and soft cotton clothing, give lukewarm baths (~5 min, 2-3 x week) with consideration of a gentle cleanser (pH 4-6) and the application of a full-body moisturizing after bath, while avoiding products with toxic and irritating ingredients. A growing body of evidence recognizes the benefits of ongoing daily use of non-alkaline cleansers and moisturizers. Gentle cleansers and moisturizers containing barrier lipids help maintain the protective skin barrier when applied from birth onwards.
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Enfermedades del Sistema Nervioso Autónomo , Dermatitis Atópica , Humanos , Lactante , Recién Nacido , Niño , Dermatitis Atópica/prevención & control , Dermatitis Atópica/tratamiento farmacológico , Piel , Cuidados de la Piel/métodos , Eritema , Estado de SaludRESUMEN
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.
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Hemangioma Capilar , Hemangioma , Malformaciones Vasculares , Humanos , Adulto Joven , Adulto , Hemangioma/diagnóstico por imagen , Hemangioma/cirugía , Malformaciones Vasculares/diagnóstico por imagen , Malformaciones Vasculares/terapia , Cuello/irrigación sanguínea , Cuello/patología , Hemangioma Capilar/diagnóstico por imagen , Hemangioma Capilar/cirugía , Cabeza/patologíaRESUMEN
BACKGROUND: Low-flow malformations (LFMs) are rare diseases with a significant impact on health-related quality of life (HRQoL), especially in children. No disease-specific questionnaire is available for children with LFMs. OBJECTIVE: To develop and validate a specific HRQoL questionnaire for children from 11 to 15 years old suffering from LFMs. METHODS: A preliminary questionnaire based on a verbatim from focus groups was created and sent to children from 11 to 15 years old suffering from LFMs, together with a dermatology-specific and a generic HRQoL questionnaire (cDLQI and EQ-5D-Y). RESULTS: A total of 75 from 201 included children responded to the questionnaires. The final version of the questionnaire (cLFM-QoL) included 15 questions and was not divisible into subscales. It demonstrated excellent internal consistency (cronbach 0.89), convergent validity and readability (SMOG 6.04). cLFM-QoL mean score (± SD) was 12.9/45 (8.03) for all grades of severity, for mild 8.22/45 (7.5), moderate 14.03/45 (8.35), severe 12.35/45 (6.59) or very severe patients 20.7/45 (3.39) (p 0.006). CONCLUSION: cLFM-QoL is a validated short and easy to use specific questionnaire with excellent psychometric capacities. It will be suitable for any children aged 11-15 with LFMs, in daily practice or clinical trials.
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Calidad de Vida , Humanos , Niño , Adolescente , Encuestas y Cuestionarios , Psicometría , Grupos Focales , Reproducibilidad de los ResultadosRESUMEN
OBJECTIVE: To determine the clinical manifestations, management, and outcomes of pediatric granuloma annulare (GA). STUDY DESIGN: We searched MEDLINE via PubMed, Latin American and Caribbean Health Sciences, and EMBASE from inception to January 2021. We included all original reports of patients <18 years of age with a diagnosis of GA and all original reports describing any intervention, including topical or systemic agents, in these patients. Two authors independently extracted sociodemographics and clinical data of the study patients and treatment(s) used. RESULTS: Of 2440 reports screened, 202 were included (836 patients). The mean age was 5.7 (SD 3.8) years and F:M ratio 1.3:1. Localized GA (n = 384/821, 46.8%) and subcutaneous GA (n = 353/821, 43.0%) were the most prevalent subtypes. The most affected site was lower limbs (n = 272/568, 47.9%). Suspected triggering factors were mainly local trauma. Diabetes was associated in 22 (2.6%) patients. The rate of spontaneous remission was high (n = 140/155, 90.3%), with a median time of 12 months. The most frequent therapies were surgery and topical corticosteroids. Recurrence was observed in 38.3% (n = 168/439) of patients, regardless of treatment. CONCLUSIONS: Pediatric GA frequently resolves spontaneously yet displays a high recurrence rate. Hence, in asymptomatic forms, invasive therapies are not recommended as first-line treatment.
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Diabetes Mellitus , Granuloma Anular , Humanos , Niño , Preescolar , Granuloma Anular/terapia , Granuloma Anular/tratamiento farmacológico , Glucocorticoides/uso terapéutico , Remisión Espontánea , Diagnóstico DiferencialRESUMEN
BACKGROUND: Topical drugs are often used as first-line treatment for dermatological conditions. A within-person design may then be well adapted: it consists of randomizing lesions/body sites rather than patients, which are then concomitantly treated by the different drugs compared, reducing inter-group variability and therefore requiring fewer patients than the classical parallel-group trial. OBJECTIVES: The aim of this review was to provide a methodological overview of within-person randomized trials (WP-RCTs) in dermatology. METHODS: We searched for eligible trials published between 2017 and 2021 in MEDLINE, Embase, and Central in dermatology journals and the 6 highest-impact-factor general medical journals. Two authors selected publications and extracted data independently. RESULTS: From 1,034 articles identified, we included 54 WP-RCTs, mainly for acne vulgaris, psoriasis, actinic keratosis, and atopic dermatitis. In most of the trials, patients had only 2 lesions/body sites. In none of the trials, did we detect a potential carry-across effect (known to be the major methodological problem in WP-RCTs). Twelve studies reported a care provider applying the treatment, and in 26 studies, the patients themselves applied the treatment. Finally, we also highlight statistical issues for the statistical analysis: overall, 14 (26.9%) studies used a test for independent observations, thus ignoring the between-lesion correlation. CONCLUSION: Our systematic review highlights that despite the publication of the CONSORT checklist extension for WP-RCTs in 2017, this design is rarely used, and when it is, there are methodological and reporting concerns.
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Acné Vulgar , Dermatitis Atópica , Humanos , Ensayos Clínicos Controlados Aleatorios como Asunto , Acné Vulgar/tratamiento farmacológico , Lista de VerificaciónRESUMEN
[This corrects the article DOI: 10.1371/journal.pntd.0009144.].
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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_lymphatiques_kystiques_-_pnds.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.