b'lipomatous (adipose) tissue, cystic lymphaticPhysical Examination Elements:malformations, areas of lymphedema, and areas 1. A whole-body skin evaluation may identify areas ofwith venous malformations predisposing and placingcapillary malformations or epidermal nevi that can the patient at risk for developing thrombosis. change the initial assessment of simple lymphatic Teachable Fact:malformation or lymphedema.2. Respiratory and cardiac evaluation is critical.Using lymphatic massage or lymphatic pumpin an area mistaken for lymphedema but is aOne of the classic missed presentations is a child/lipomatous overgrowth or cystic lymphaticadult who shows up in the emergency room or their malformations does not have any effect, whileprimary care provider with shortness of breath and/recognizing and addressing the lymphedemaor wheezing (often being misdiagnosed with asthmacomponent in a patient with multiple elements or pneumonia).of lymphatic dysfunction can significantly Clinical Pearl: improve quality of life.Decreased air entry or muffled cardiac sounds History and Physical Examination may represent the presence of chylothorax or Section A above reviews the history and physicalpericardial effusion (because these are rare examination key components that may help inconditions, it is something we dont generally differentiating lymphedema versus lipedema. We willconsider in our differential).now emphasize the key elements that are important to3. Head and neck evaluation (i.e., A child presenting be included when considering lymphatic and vascular anomalies in the differential diagnosis. with presence of macrocephaly which is definedas the head circumference of an infant that is 2 History Elements: standard deviations or above the 97th percentile 135As the provider, consider these fact-findingconsider raising the suspicion of PIK3CA-related questions as essential in making an accurate diagnosis.overgrowth syndrome or PTEN hamartoma tumor syndrome) 1361. When was the anomaly first noted, and in what4. Musculoskeletal evaluation of the enlargedcircumstances? (i.e., Did the lesion or symptoms present at birth versus in adulthood? This smallbody part.detail has a high influence and impacts onClinical Pearl: management and quality of life, etc.)A malformation that increases in volume in a 2. Did it seem to increase in size after the initial dependent position is most probably a venous presentation? (i.e., an isolated lesion versus diffusemalformation, not lymphatic.involvement. Some clinical entities are progressivewhile others seem to be static/not extendingTranslucency exams may identify macrocystic outside of the original region identified). lymphatic malformations.Leg length discrepancy is noted in asymmetric 3. What symptoms does the anomaly cause? (i.e., pain,bruising, bleeding, limitation of range of motion,overgrowth syndromes associated with vascular recurrent infections, oozing from skin lesions,anomalies.shortness of breath, fatigue, decreased appetite,The evaluating medical team should completeother functional impairment, etc.). a comprehensive history and physical evaluation4. Is there a family history of similar findings? of the patient and avoid focusing on only the (i.e., lymphedema may have autosomal dominantcurrent complaint.inheritance in some cases).5. What interventions have been tried? (i.e., scarringB. MANAGEMENT OF VASCULAR ANDfollowing prior endovascular or surgical interventions OTHER COMPLEX MALFORMATIONS,may change the original characteristics of theFOR OVERLAPPING VASCULAR/LYMPHATIC malformation). CONDITIONS6. Has the anomaly affected appetite? (Consider Patients with vascular and other complex obtaining a nutritional history (i.e., while weight malformations may present with heterogeneous signs gain and a history of obesity may adversely affectand symptoms, oftentimes requiring treatment by lymphedema and lipedema, complex lymphaticinterdisciplinary teams. Consultations with experts anomalies present in early childhood and maysuch as hematologists, dermatologists, interventional predispose the child to malnutrition. An exampleradiologists, vascular surgery, genetics, etc. are that we see in these cases is protein-losingnecessary when making decisions on laboratory enteropathy (PLE)).testing, diagnostic imaging, and care planning.| Standardized Approach for the Diagnosis and Management of Lymphedema (LE) and Lymphatic Diseases (LD)|34'