A 10-year analysis of the racial distribution of authors in plastic surgery research and the impact of minority mentorship.

Background: This study evaluates the racial distribution in Plastic and Reconstructive Surgery (PRS) publication authorship and illustrates the impact underrepresented in medicine (URiM) mentorship has on increasing diverse trainee contributions to the PRS peer-reviewed literature.

Methods: Articles published in the seven highest-impact PRS peer-reviewed journals within the last 10 years (2012-2022) were reviewed and analyzed for first and senior authors' race and ethnicity, publication year, and citation count.

Results: A total of 23,549 publications were identified of which 8250 were from the US-based institutions.

Papillary Hemangioma Harbors Somatic GNA11 and GNAQ Mutations.

Papillary hemangioma (PH) is a small, primarily dermal lesion occurring predominantly in the head and neck in both children and adults. Its signature characteristics are dilated thin-walled channels containing papillary clusters of mainly capillary-sized vessels and endothelial cytoplasmic eosinophilic inclusions. Given certain histopathologic similarities to congenital hemangioma which harbor mutations in GNAQ and GNA11 , we investigated whether similar mutations are present in PH.

Body Mass Index and Lymphedema Morbidity: Comparison of Obese versus Normal-Weight Patients.

Background: Obesity is a risk factor for the development of secondary lymphedema after axillary lymphadenectomy and radiation therapy. The purpose of this study was to determine whether obesity influences the morbidity of lymphedema in patients who have the condition.

Methods: Two cohorts of patients were compared: group 1, normal weight (body mass index ≤25 kg/m); and group 2, obese (body mass index ≥30 kg/m).

Endothelial MAP2K1 mutations in arteriovenous malformation activate the RAS/MAPK pathway.

Arteriovenous malformation (AVM) is a locally destructive congenital vascular anomaly caused by somatic mutations in MAP2K1. The mutation is isolated to endothelial cells (ECs). The purpose of this study was to determine the effects of mutant MAP2K1 on EC signaling and vascular network formation.

Arteriovenous Malformation MAP2K1 Mutation Causes Local Cartilage Overgrowth by a Cell-Non Autonomous Mechanism.

Extracranial arteriovenous malformation (AVM) is most commonly caused by MAP2K1 mutations in the endothelial cell. The purpose of this study was to determine if local tissue overgrowth associated with AVM is caused by direct or indirect effects of the MAP2K1 mutation (i.e.

Diffuse capillary malformation with overgrowth contains somatic PIK3CA variants.

Diffuse capillary malformation with overgrowth (DCMO) is a clinical diagnosis describing patients with multiple, extensive capillary malformations (CMs) associated with overgrowth and foot anomalies. The purpose of the study was to identify somatic variants in DCMO. Skin containing CM and overgrown subcutaneous adipose tissue was collected from patients with DCMO.

Somatic mutations in intracranial arteriovenous malformations.

Background: Intracranial arteriovenous malformation (AVM) is a common cause of primary intracerebral hemorrhage in young adults. Lesions typically are sporadic and contain somatic mutations in KRAS or BRAF. The purpose of this study was to identify somatic mutations in a cohort of participants with brain AVM and to determine if any genotype-phenotype associations exist.

Arteriovenous malformation associated with a HRAS mutation.

The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.

Sensitivity and Specificity of the Stemmer Sign for Lymphedema: A Clinical Lymphoscintigraphic Study.

Background: The Stemmer sign is a physical examination finding used to diagnose lymphedema. If the examiner cannot pinch the skin of the dorsum of the foot or hand then this positive finding is associated with lymphedema. The purpose of the study was to determine the accuracy of the Stemmer sign to predict lymphedema.

Intramuscular fast-flow vascular anomaly contains somatic MAP2K1 and KRAS mutations.

Background: The term "intramuscular hemangioma capillary type" (IHCT) refers to a fast-flow vascular lesion that is classified as a tumor, although its phenotype overlaps with arteriovenous malformation (AVM). The purpose of this study was to identify somatic mutations in IHCT.

Methods: Affected tissue specimens were obtained during a clinically indicated procedure.

Adult-Onset Primary Lymphedema: A Clinical-Lymphoscintigraphic Study of 26 Patients.

Primary lymphedema results from the anomalous development of the lymphatic system that typically presents during infancy, childhood, or adolescence. Adult-onset primary lymphedema is rare and has not been studied. The purpose of this investigation was to characterize patients with primary lymphedema that developed after the pediatric time period to better understand the condition.

Lymphoscintigraphic Evaluation of Systemic Tracer Uptake in Patients With Primary Lymphedema.

Background: Lymphoscintigraphy is used to confirm the diagnosis of lymphedema. One end point for the test is to ensure a patent thoracic duct by uptake of tracer in the organs. The purpose of this study was to evaluate transit of radiolabeled colloid to the organs to gain insight into the etiopathophysiology of primary lymphedema.

Association of Somatic GNAQ Mutation With Capillary Malformations in a Case of Choroidal Hemangioma.

Importance: Choroidal hemangiomas are defined by a thickened choroid owing to vessel overgrowth, which may increase the intraocular pressure and lead to glaucoma. Choroidal hemangioma and glaucoma often co-occur in patients with Sturge-Weber syndrome, a rare neurocutaneous disorder characterized by capillary malformations.

Objective: To determine whether the mutation found in most capillary malformations, GNAQ R183Q (c.

Primary Lymphedema of the Upper Extremities: Clinical and Lymphoscintigraphic Features in 23 Patients.

Background: Primary idiopathic lymphedema is an uncommon condition that typically affects the lower extremities. Patients have a malformed lymphatic system that causes subcutaneous fluid and adipose deposition. Rarely, the disease also has been described in the upper extremities.

Vascular Anomalies: From a Clinicohistologic to a Genetic Framework.

Background: Vascular anomalies currently are classified according to their clinical and histological characteristics. Recent advances in molecular genetics have enabled the identification of somatic mutations in most types of vascular anomalies. The purpose of this study was to collate information regarding the genetic basis of vascular anomalies.

Diagnosis and Staging of Lymphedema.

Lymphedema often is confused with other causes of extremity edema and enlargement. Understanding the risk factors and physical examination signs of lymphedema can enable the health care practitioner to accurately diagnose patients ∼90% of the time. Confirmatory diagnosis of the disease is made using lymphoscintigraphy.

Analysis of Follicle-Stimulating Hormone Receptor in Infantile Hemangioma.

Introduction: The life cycle of infantile hemangioma (IH) and secretion of follicle-stimulating hormone (FSH) are identical. We previously have shown that IH contains the FSH receptor (FSHR). The purpose of this study was to identify which cell type(s) in IH expresses FSHR.

Vascular Malformation Enlargement During Menopause.

Vascular malformations enlarge overtime, particularly during adolescence when follicle-stimulating hormone (FSH) rises. Lesions contain the receptor for follicle-stimulating hormone. FSH also becomes elevated during menopause.

Association between extremity kaposiform hemangioendothelioma and lymphedema.

Kaposiform hemangioendotheliomas are pediatric vascular tumors that do not metastasize. We present a patient with a thigh kaposiform hemangioendothelioma successfully treated using a systemic corticosteroid during infancy who was diagnosed with lymphedema in the extremity 9 years later. The observation that extremity kaposiform hemangioendothelioma could possibly be associated with lymphedema has implications for the care of patients with kaposiform hemangioendothelioma.

Congenital Vascular Tumors.

Vascular tumors are benign neoplasms, which result from proliferating endothelial cells. These lesions present during infancy or childhood, may affect any location, and exhibit postnatal growth. Local complications include bleeding, tissue destruction, and pain whereas systemic sequelae include thrombocytopenia, congestive heart failure, and death.

Propranolol Treatment of Vascular Anomalies Other Than Infantile Hemangioma.

Background: Oral propranolol has become first-line intervention for problematic infantile hemangioma (IH) that is not amenable to topical or intralesional therapies. Consensus data supporting its efficacy for other vascular anomalies does not exist. The purpose of this study was to determine the frequency and causes of propranolol use for vascular lesions other than IH.

Resolution of Primary Lymphedema: A Case Report.

Primary lymphedema is a rare, progressive disease that typically affects the lower extremity. The condition is not curable, and the limb enlarges over time because of subcutaneous fibroadipose deposition. We present a patient with clinical and radiographical evidence of resolution of primary lymphedema.

Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation.

Arteriovenous malformation (AVM) is a fast-flow, congenital vascular anomaly that may arise anywhere in the body. AVMs typically progress, causing destruction of surrounding tissue and, sometimes, cardiac overload. AVMs are difficult to control; they often re-expand after embolization or resection, and pharmacologic therapy is unavailable.

A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth.

Background: Capillary malformation is a cutaneous vascular anomaly that is present at birth, darkens over time, and can cause overgrowth of tissues beneath the stain. The lesion is caused by a somatic activating mutation in GNAQ. In a previous study, we were unable to identify a GNAQ mutation in patients with a capillary malformation involving an overgrown lower extremity.

Beckwith-Wiedemann Syndrome and Primary Lymphedema of the Lower Extremity.

Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema.