Genomes and Genes
Summary: Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels.
- Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez Gonzalez V, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med. 2016;18:1226-1234 pubmed publisher..In relation to NS of other genetic etiologies, prenatal abnormalities, cardiovascular disease, and lymphatic abnormalities were common in individuals with RIT1 mutation, whereas short stature, intellectual problems, pectus ..
- Azizkhan R, Rutter M, Cotton R, Lim L, Cohen A, Mason J. Lymphatic malformations of the tongue base. J Pediatr Surg. 2006;41:1279-84 pubmed..Laryngeal involvement signifies extensive disease and is the most significant risk factor for serious complications and death. ..
- Guerra A, Metzinger S. Use of the deep inferior epigastric perforator flap in a 15-month-old boy after resection of lymphatic malformation. J Pediatr Surg. 2004;39:1428-31 pubmed..The deep inferior epigastric perforator (DIEP) flap is a useful option for groin defects and can be applied safely in the pediatric population. ..
- Lisan Q, Villepelet A, Parodi M, Garabedian E, Blouin M, Couloigner V, et al. Value of radiofrequency ablation in the management of retropharyngeal lymphatic malformation. Int J Pediatr Otorhinolaryngol. 2016;83:37-40 pubmed publisher..Radiofrequency ablation in the management of retropharyngeal lymphatic malformations is a simple technique with very good results and allows a fast recovery with minimum morbidity and a short hospital stay. ..
- Arnold R, Chaudry G. Diagnostic imaging of vascular anomalies. Clin Plast Surg. 2011;38:21-9 pubmed publisher..The use of these imaging techniques in the diagnosis and assessment of vascular tumors, malformations, and combined malformation syndromes is discussed in this article. ..
- O T, Kwak R, Portnof J, Berke D, Lipari B, Waner M. Analysis of skeletal mandibular abnormalities associated with cervicofacial lymphatic malformations. Laryngoscope. 2011;121:91-101 pubmed publisher..Our study is the first quantitative analysis of these changes. This is the first step in planning for dentofacial orthopedics, orthodontics, and orthognathic surgery. ..
- Wang L, Gao T, Wang G. Acral hemosideric lymphatic malformation. J Cutan Pathol. 2013;40:657-60 pubmed publisher..We propose the name of acral hemosideric lymphatic malformation for this entity. ..
- Colbert S, Seager L, Haider F, Evans B, Anand R, Brennan P. Lymphatic malformations of the head and neck-current concepts in management. Br J Oral Maxillofac Surg. 2013;51:98-102 pubmed publisher..We review the dilemmas posed in diagnosis and treatment, and discuss the contemporary management of these interesting entities including sclerotherapy, which is gaining popularity. ..
- Roy S, Reyes S, Smith L. Bipolar radiofrequency plasma ablation (Coblation) of lymphatic malformations of the tongue. Int J Pediatr Otorhinolaryngol. 2009;73:289-93 pubmed publisher..There were no complications in any child. Bipolar radiofrequency plasma ablation (Coblation) may provide a safe, simple and effective technique for removal of lymphatic malformations of the tongue in children. ..
- Sutkowska E, Bator A, Trompeta K, Szuba A. Different lymphscintigraphic patterns in patients with lymphedema distichiasis. Lymphology. 2010;43:73-7 pubmed..We have examined two patients with LD syndrome and were able to demonstrate two different distinct lymphscintigraphic patterns: lymphatic hyperplasia with reflux and obstructive...
- Xu Y, Xu D, Chen Z. Giant lymphatic malformations of the mediastinum in children: report of three cases. Clin Imaging. 2012;36:606-8 pubmed publisher..Thus, mediastinum lymphatic malformations should be kept in mind as a differential diagnosis of pneumonia and mass in the neck. ..
- Sun Y, Jia J, Zhang W, Liu B, Zhang Z, Zhao Y. A reproducible in-vivo model of lymphatic malformation in rats. J Comp Pathol. 2011;145:390-8 pubmed publisher..The cystic lesions were consistent with human lymphatic malformation. This animal model could be used to investigate pathogenesis of lymphatic malformation and its responses to candidate therapies...
- Duffy K. Genetics and syndromes associated with vascular malformations. Pediatr Clin North Am. 2010;57:1111-20 pubmed publisher..This article focuses on genetic contributions of vascular malformations in the context of syndromes and the tests that are available. ..
- Oliveira C, Sacher P, Meuli M. Management of prenatally diagnosed abdominal lymphatic malformations. Eur J Pediatr Surg. 2010;20:302-6 pubmed publisher..Further studies are necessary to determine the ideal timepoint for intervention for non-regressing ALM. ..
- Yun W, Kim D, Rho Y, Do Y, Park K, Kim K, et al. Natural course of venous malformation after conservative treatment. Surg Today. 2012;42:950-5 pubmed publisher..VMs combined with CM or LM were the only independent predictor of progression of a VM after conservative management. ..
- Sandler G, Adams S, Taylor C. Paediatric vascular birthmarks--the psychological impact and the role of the GP. Aust Fam Physician. 2009;38:169-71 pubmed..Treatment strategies are improving, but there is a need to adequately address the psychosocial impact that these lesions have, both on parents and children. The GP is the carer best placed to meet these needs. ..
- Darvall J, Morsi A, Penington A. Coexisting harlequin and Horner syndromes after paediatric neck dissection: a case report and a review of the literature. J Plast Reconstr Aesthet Surg. 2008;61:1382-4 pubmed..To our knowledge this is the first reported case of both syndromes resulting from surgery, and illustrates the particular challenge of lymphatic malformations in neck surgery due to their non-adherence to anatomical planes...
- Niu Z. Retroperitoneal lymphatic malformation in child with horseshoe kidney. Urology. 2012;79:437-9 pubmed publisher..Although asymptomatic horseshoe kidney need not be treated, it is important for patients to receive regular follow-up because of the propensity for various complications. ..
- Small K, Ginsburg H, Greco M, Sarita Reyes C, Kupchik G, Blei F. More than skin deep: a case of congenital lamellar ichthyosis, lymphatic malformation, and other abnormalities. Lymphat Res Biol. 2008;6:39-44 pubmed publisher..We review the disorders, examine their genetic causes, and explore the genetic connection among them. ..
- Wang Y, Li X. [The diagnosis and treatment progress of lymphatic malformations of the head and neck in children]. Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015;29:1049-52 pubmed..In order to obtain the best treatment outcomes, the treatment protocol should be individualized and comprehensive. ..
- Stefini S, Bazzana T, Smussi C, Piccioni M, Frusca T, Taddei F, et al. EXIT (Ex utero Intrapartum Treatment) in lymphatic malformations of the head and neck: discussion of three cases and proposal of an EXIT-TTP (Team Time Procedure) list. Int J Pediatr Otorhinolaryngol. 2012;76:20-7 pubmed publisher..The type of lymphatic malformation, the anatomic location and the clinical score predict the outcome. ..
- Karavelioğlu A, Temucin C, Tanyel F, Ciftci A, Senocak M, Karnak I. Sclerotherapy with bleomycin does not adversely affect facial nerve function in children with cervicofacial cystic lymphatic malformation. J Pediatr Surg. 2010;45:1627-32 pubmed publisher..Bleomycin sulfate did not adversely affect facial nerve function in children who underwent sclerotherapy for cervicofacial cystic lymphatic malformation when it was applied according to our protocol. ..
- Burke R, Morin R, Perlyn C, Laure B, Wolfe S. Special considerations in vascular anomalies: operative management of craniofacial osseous lesions. Clin Plast Surg. 2011;38:133-42 pubmed publisher..Secondary osseous involvement occurs when bony hypertrophy develops because of increased flow of the surrounding soft tissue. This article focuses on the management of the osseous deformities associated with vascular anomalies. ..
- Schulman J, Christison Lagay E, Kozakewich H, Boiselle P, Burrows P, Fox V, et al. Macrocystic lymphatic malformation in the pulmonary parenchyma. Ann Thorac Surg. 2009;87:1607-9 pubmed publisher..Recurrent hemoptysis necessitated left lower lobectomy. This is the first reported case of a macrocystic lymphatic lesion with venous anomalies located within the parenchyma of the lung. ..
- Wiegand S, Ott A, Zimmermann A, Wilhelm T, Eivazi B, Werner J. Localization of lymphatic malformations of the neck. Lymphat Res Biol. 2013;11:101-3 pubmed publisher..Maybe both types of malformation have a different etiology. However, this will have to be clarified in further studies. ..
- Balakrishnan K, Perkins J. Management of head and neck lymphatic malformations. Facial Plast Surg. 2012;28:596-602 pubmed publisher..It also provides the reader specific information to improve treatment outcomes in patients with these lesions. Finally, it advocates for standardization of LM assessment and treatment. ..
- Dubois J, Rypens F, Garel L, Yazbeck S, Therasse E, Soulez G. Pediatric gastrointestinal vascular anomalies: imaging and therapeutic issues. Pediatr Radiol. 2007;37:566-74 pubmed..In this pictorial essay we review the classification, imaging characteristics and treatment of gastrointestinal vascular anomalies. ..
- Shiels W, Kang D, Murakami J, Hogan M, Wiet G. Percutaneous treatment of lymphatic malformations. Otolaryngol Head Neck Surg. 2009;141:219-24 pubmed publisher..Percutaneous sclerotherapy provides effective treatment for macrocystic and microcystic LM as primary treatment or for recurrence after surgical resection. ..
- Redondo P, Aguado L, Martinez Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: part I. Clinical diagnosis. J Am Acad Dermatol. 2011;65:893-906; quiz 907-8 pubmed publisher..This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients. ..
- Stepniewska J, Ciechanowski K, Rozanski J. [Vascular malformations]. Pol Merkur Lekarski. 2004;17:392-4 pubmed..The author concentrates on the definition of malformation and its types, the review of clinical studies and guidelines for diagnosis and treatment. ..
- Burrows P, Mitri R, Alomari A, Padua H, Lord D, Sylvia M, et al. Percutaneous sclerotherapy of lymphatic malformations with doxycycline. Lymphat Res Biol. 2008;6:209-16 pubmed publisher..03), and greater doxycycline dose (p = 0.05). Doxycycline is a safe and effective sclerosant for LMs. Greater follow-up is necessary to quantify long-term outcomes and assess the risks of lesion recurrence. ..
- Wang K, Chun R, Kerschner J, Sulman C. Sympathetic neuropathy and dysphagia following doxycycline sclerotherapy. Int J Pediatr Otorhinolaryngol. 2013;77:1613-6 pubmed publisher..While neuropathies following doxycycline sclerotherapy have been described, aspiration has never been documented. This case demonstrates a single patient's clinical course and resolution of their neuropathies. ..
- Noon A, Hunter R, Witte M, Kriederman B, Bernas M, Rennels M, et al. Comparative lymphatic, ocular, and metabolic phenotypes of Foxc2 haploinsufficient and aP2-FOXC2 transgenic mice. Lymphology. 2006;39:84-94 pubmed..AP2-FOXC2 Tg immunohistochemistry disclosed aberrant FOXC2 expression in ectopic sites, especially embryonic heart. Lymphatic system links with fat metabolism are discussed. ..
- Vasileiou A, Bull R, Kitou D, Alexiadou K, Garvie N, Coppack S. Oedema in obesity; role of structural lymphatic abnormalities. Int J Obes (Lond). 2011;35:1247-50 pubmed publisher..Lymphoscintigraphy is the best method to detect structural lymphatic abnormalities that can cause lymphoedema...
- Levitin G, Thompson S, Berenstein A, Waner M. Surgical treatment of buccofacial region vascular anomalies using an intraoral buccomucosal flap procedure. Arch Otolaryngol Head Neck Surg. 2010;136:134-7 pubmed publisher..The intraoral buccomucosal flap procedure is an effective surgical technique for treating vascular anomalies of the buccofacial region. ..
- Glade R, Buckmiller L. CO2 laser resurfacing of intraoral lymphatic malformations: a 10-year experience. Int J Pediatr Otorhinolaryngol. 2009;73:1358-61 pubmed publisher..No postoperative complications were seen. CO(2) laser resurfacing appears to be both safe and efficacious in treatment of symptoms related to intraoral LM. Intermittent treatments for recurrent symptoms is expected. ..
- Ochiai M, Hikino S, Nakayama H, Ohga S, Taguchi T, Hara T. Nonimmune hydrops fetalis due to generalized lymphatic dysplasia in an infant with Robertsonian trisomy 21. Am J Perinatol. 2006;23:63-6 pubmed..Refractory chylothorax in trisomy 21 patients may emphasize the need for intensive scrutiny of lymphatic disorders. ..
- Chen W, Zhang B, Wang J, Ye H, Zhang D, Huang Z. Surgical excision of cervicofacial giant macrocystic lymphatic malformations in infants and children. Int J Pediatr Otorhinolaryngol. 2009;73:833-7 pubmed publisher..Surgical dissection of giant macrocystic lymphatic malformations involving the cervicofacial region in infants and children is safe and gives satisfactory esthetic and functional results, including lesions in the newborn. ..
- Lopez Gutierrez J, Lapunzina P. Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association. Am J Med Genet A. 2008;146A:2583-8 pubmed publisher..This constellation of findings has been observed in six unrelated patients, constituting a likely "new" syndrome/association of capillary-lymphatic-venous malformation and asymmetric overgrowth. ..
- Lavie A, Desouches C, Casanova D, Bardot J, Magalon G. [Surgical treatment of lymphatic malformations]. Ann Chir Plast Esthet. 2006;51:433-9 pubmed..Through our experience and a review of literature, we will describe principles of lymphatic malformations surgery and specific technics for specific locations. ..
- Wittekindt C, Michel O, Streppel M, Roth B, Quante G, Beutner D, et al. Lymphatic malformations of the head and neck: introduction of a disease score for children, Cologne Disease Score (CDS). Int J Pediatr Otorhinolaryngol. 2006;70:1205-12 pubmed..The evaluation of the CDS was easy and expeditious. The score itself was a good predictor in view of the outcome. This new disease score for paediatric patients might be appropriate to evaluate therapeutic trials in paediatric patients. ..
- Churchill P, Otal D, Pemberton J, Ali A, Flageole H, Walton J. Sclerotherapy for lymphatic malformations in children: a scoping review. J Pediatr Surg. 2011;46:912-22 pubmed publisher..Randomized clinical trials focused on OK-432, bleomycin, or alcoholic solution of zein; standardized dosing protocols; and consistent and reliable outcome reporting will be necessary for further development of treatment guidelines. ..
- GarcÃa HernÃ¡ndez C, Carvajal Figueroa L, CalderÃ³n Urrieta A, Lechuga Tosqui A, Landa JuÃ¡rez S. [Minimally invasive treatment for traumatic chylopericardium. Paediatric case report]. Cir Cir. 2016;84:45-9 pubmed publisher..b>Lymphatic abnormalities were ruled out by MRI. He underwent surgical treatment due to failure of prior treatment...
- Lally S. Update on orbital lymphatic malformations. Curr Opin Ophthalmol. 2016;27:413-5 pubmed publisher..The use of sclerosing agents shows great promise for treating macrocysts. More knowledge is needed in the development of the disease process. Hopefully, antilymphangiogenic agent can provide targeted treatment. ..
- Wible B, Mitchell S. Doxycycline sclerotherapy of an intraosseous femoral lymphatic malformation: case report and literature review. J Vasc Interv Radiol. 2009;20:660-3 pubmed publisher..The malformation was sclerosed twice with doxycycline, resulting in patient-reported decreased associated pain from an intensity of 9 of 10 at presentation to 2 of 10 at 9-month follow-up. ..
- Ewing M, Zreik R, Donner L, Zehr K. Large lymphaticovenous malformation resection. Interact Cardiovasc Thorac Surg. 2013;17:205-6 pubmed publisher..4 cm craniocaudal. The mass was found to be adhered tightly to the coronary sinus. Histologically, the lesion was composed of dilated vascular and lymphatic channels within a fatty stroma. The mass was resected without complications. ..
- Schindel D, Twickler D, Frost N, Walsh D, Santiago Munoz P, Johnson R. Prognostic significance of an antenatal magnetic resonance imaging staging system on airway outcomes of fetal craniofacial venolymphatic malformations. J Surg Res. 2017;217:187-190 pubmed publisher..This information may be useful when counseling expectant families of affected fetuses. ..
- Shen S, Zhao Y, Yang W, Xu L, Sun Z, Chen X, et al. Decreased nerve distribution in mixed venous-lymphatic malformation. Int J Oral Maxillofac Surg. 2008;37:1106-10 pubmed publisher..These data suggest that the decreased distribution of sensory nerve fibers in MVLMs may be involved in the pathogenesis of MVLM of the tongue. ..
- Berg E, Sobol S, Jacobs I. Laryngeal obstruction by cervical and endolaryngeal lymphatic malformations in children: proposed staging system and review of treatment. Ann Otol Rhinol Laryngol. 2013;122:575-81 pubmed..Lymphatic malformations obstructing the larynx require a careful and often staged management approach. A proposed staging system helps to predict the need for tracheotomy and the likelihood of long-term tracheotomy dependence. ..
- Marler J, Fishman S, Kilroy S, Fang J, Upton J, Mulliken J, et al. Increased expression of urinary matrix metalloproteinases parallels the extent and activity of vascular anomalies. Pediatrics. 2005;116:38-45 pubmed..In addition to tumors, vascular malformations are angiogenesis dependent, suggesting that progression of a vascular malformation might be suppressed by angiogenic inhibitors, which would target bFGF and MMPs. ..
- Wiegand S, Eivazi B, Zimmermann A, Sesterhenn A, Werner J. Evaluation of children with lymphatic malformations of the head and neck using the Cologne Disease Score. Int J Pediatr Otorhinolaryngol. 2009;73:955-8 pubmed publisher..The present series could show that especially patients with a moderate or advanced disease according to the CDS may profit from therapeutic interventions. ..