Arq Bras Oftalmol 2018 Jan-Feb;81(1):47-52

Department of Ophthalmology, Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.

Purpose: This study aimed to share the results of patients who underwent anterior tarsal flap rotation combined with anterior lamellar reposition because of cicatricial upper eyelid entropion, and to determine the effectiveness and reliability of this surgical technique.

Methods: Fifteen eyes of 11 patients (2 right eyes; 5 left eyes; and 4 bilateral eyes) on whom we performed anterior tarsal flap rotation surgery combined with anterior lamellar reposition because of cicatricial entropion were included in this study. The medical records of the patients were analyzed retrospectively, and the causes of cicatricial entropion as well as the preoperative and postoperative ophthalmic examination findings were recorded. Read More

Vet Ophthalmol 2018 Mar 1. Epub 2018 Mar 1.

BluePearl Veterinary Partners, Veterinary Specialty and Emergency Center, Levittown, PA, USA.

Objective: To describe a successful, simple treatment for canine distichiasis.

Animals Studied: Client-owned dogs presenting to Veterinary Specialty and Emergency Center, Levittown, Pennsylvania.

Procedure: Retrospective analysis of medical records for canine patients that underwent transconjunctival thermal electrocautery treatment (TCEC) for distichiasis alone or with concurrent eyelid surgery between 2013 and 2016. Read More

J Orthop Sci 2018 Feb 16. Epub 2018 Feb 16.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan. Electronic address:

Background: Spinal extradural arachnoid cyst (SEDAC) is a cystic lesion that protrudes into the epidural space from a small dural defect. Early diagnosis of SEDAC is important because its expansion causes neurological damage. Two types of SEDAC, syndromic and sporadic, are present. Read More

Ophthal Plast Reconstr Surg 2018 Feb 5. Epub 2018 Feb 5.

Medical Scientist Training Program, Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, and Department of Neurological Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.

A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1 year of age. The patient's family history was notable for distichiasis and lymphedema affecting numerous family members. The patient was found to have a novel heterozygous variant (c. Read More

Eur J Hum Genet 2018 Feb 18;26(2):210-219. Epub 2018 Jan 18.

Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.

Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as was recently described in a different publication. CDH1 plays an essential role in epithelial cell adherence; CTNND1 binds to CDH1 and controls the stability of the complex. Read More

Ophthal Plast Reconstr Surg 2018 Mar/Apr;34(2):e63-e65

Department of Ophthalmology and Visual Sciences, Kellogg Eye Center, University of Michigan Medical School, Ann Arbor, Michigan, U.S.A.

Distichiasis is a challenging condition that may require multiple surgical interventions. Besides ophthalmologic concerns in children, distichiasis may be part of the lymphedema-distichiasis syndrome, which presents with lymphedema of variable time of onset. Other significant systemic disorders such as coarctation of the aorta and varicose veins have been reported in association with this syndrome and must be reviewed for proper patient care. Read More

Orbit 2018 Jan 9:1-3. Epub 2018 Jan 9.

a Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, affiliated to the Sackler Faculty of Medicine , Tel Aviv University , Tel Aviv , Israel.

Purpose: To describe a new modified technique of direct tarsal excision for treatment of distichiasis.

Methods: Retrospective review of consecutive patients who underwent direct tarsal excision without grafting to treat distichiasis between December 2007 and November 2015. Gender, number of eyelids treated, follow-up time, and surgical outcome were recorded. Read More

Orbit 2018 Apr 23;37(2):87-90. Epub 2017 Oct 23.

a Oculoplastic Division , King Khaled Eye Specialist Hospital , Riyadh , Saudi Arabia.

Purpose: To describe a new technique to treat congenital distichiasis.

Methods: Case series of three distichiatic patients undergoing a novel surgical technique combining splitting of the lid margin with the distichiatic lashes, marginal tarsectomy in the affected area, and tarsoconjunctival graft obtained from the upper region of the tarsus. The graft was sutured at the exposed region of the marginal tarsectomy. Read More

Radiol Oncol 2017 Sep 6;51(3):363-368. Epub 2017 Jul 6.

University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia.

Background: Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. Read More

Saudi J Ophthalmol 2017 Jul-Sep;31(3):165-168. Epub 2017 May 18.

Department of Pathology and Oculoplastic Division, King Khaled Eye Specialist Hospital, Saudi Arabia.

Distichiasis is a condition clinically presenting as partial or complete accessory row of lashes that emerges from the meibomian glands orifices. It can be an acquired or congenital with an autosomal dominant inheritance. The histopathological features are not well described in the ophthalmic literature, however they include abnormal pilosebaceous units within the posterior lamella of the eyelid and perifollicular chronic inflammatory cell infiltration. Read More

Dev Growth Differ 2017 Aug 4;59(6):501-514. Epub 2017 Jul 4.

First Department of Medicine, Tokyo Women's Medical University, Tokyo, Japan.

FOXC2, a forkhead transcriptional factor, is a candidate gene for congenital heart diseases and lymphedema-distichiasis syndrome and yellow nail syndrome; however, there are no reports on Foxc2 and the development of the lung. We have identified lung abnormalities in Foxc2-knockout embryos during investigation of cardiac development. The aim of this study was to clarify the morphological characteristics during lung development using ICR-Foxc2 knockout lungs. Read More

Am J Med Genet A 2017 Aug 23;173(8):2251-2256. Epub 2017 May 23.

Department of Clinical Genetics, University Hospitals Leicester NHS Trust, Leicester, United Kingdom.

Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c. Read More

GMS Ophthalmol Cases 2016 12;6:Doc13. Epub 2016 Oct 12.

Department of Ophthalmology, Minia University, Minia, Egypt.

Ectopic cilia (EC) are a very rare condition with only few cases reported in literature. Many associations were seen with ectopic cilia which include distichiasis, choristoma and aberrant lacrimal gland, hypochromic nevus, atopic eczema and others. We are reporting a case of an 11-year-old girl with isolated left upper lid ectopic cilia, which was confirmed by surgical removal and histopathological study. Read More

J Maxillofac Oral Surg 2016 Sep 18;15(3):384-389. Epub 2015 Mar 18.

Department of Maxillofacial Surgery, Sapienza University of Rome, Rome, Italy.

Although micrognathia and cleft palate have been reported in patients with Lymphedema-distichiasis syndrome (LDS), the classic Robin sequence with glossoptosis and airway obstruction has not been previously described in patients with genetically confirmed LDS. Here we report on two female siblings with LDS confirmed by a mutation who presented at birth with severe airway obstruction related to Robin sequence. Respiratory obstruction was successfully managed by early distraction osteogenesis. Read More

Int J Biol Sci 2016 6;12(9):1114-20. Epub 2016 Aug 6.

Department of Ophthalmology, Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Distichiasis presents as double rows of eyelashes arising from aberrant differentiation of the meibomian glands of the eyelids, and it may be sporadic or hereditary. FOXC2 gene mutations in hereditary distichiasis are rarely reported. Here, we examined two generations of a Chinese family with hereditary distichiasis but without lymphedema or other features of LD syndrome. Read More

Stem Cell Res 2016 05 18;16(3):611-3. Epub 2016 Mar 18.

Department of Dermatology, The Jikei University School of Medicine, Tokyo, Japan.

Expanded human T cells from a Japanese male with lymphedema-distichiasis syndrome (LDS) were used to generate integration-free induced pluripotent stem cells (iPSCs) by exogenous expression of four reprogramming factors, OCT3/4, SOX2, cMYC, KLF4, using Sendai virus vector (SeVdp). The authenticity of established iPSC line, LDS-iPSC8, was confirmed by the expression of stem cell markers and the differentiation capability into three germ layers. LDS-iPSC8 may be a useful cell resource for the establishment of in vitro LDS modeling and the study for vascular and lymph vessel development. Read More

Oncotarget 2016 08;7(34):54228-54239

MAGI Non-Profit Human Medical Genetics Institute, Rovereto (TN), Italy.

Dominant mutations in the FOXC2 gene cause a form of lymphedema primarily of the limbs that usually develops at or after puberty. In 90-95% of patients, lymphedema is accompanied by distichiasis. FOXC2 is a member of the forkhead/winged-helix family of transcription factors and plays essential roles in different developmental pathways and physiological processes. Read More

J Pediatr Ophthalmol Strabismus 2016 Jul 17;53(4):218-22. Epub 2016 May 17.

Purpose: To identify the ocular features of children diagnosed as having 22q11.2 deletion syndrome in a Turkish population, which is the most common microdeletion syndrome with a wide range of facial and ocular abnormalities.

Methods: Sixteen children aged between 4 months and 18 years with a microdeletion in chromosome 22q11. Read More

Vet Ophthalmol 2017 Mar 13;20(2):114-122. Epub 2016 Apr 13.

Clinic for Small Animal Surgery and Reproduction, Veterinary Faculty, Ludwig Maximilians University Munich, Veterinärstr. 13, Munich, Germany.

Objective: To analyze the change in prevalence and incidence of hereditary eye diseases (HED) in dachshunds due to breeding regulations based on biennial examinations performed by the German panel of veterinary ophthalmologists (DOK) from 1998 to 2011.

Animals Included: A total of 12 242 dachshunds examined by the DOK and pedigree data of 318 852 dachshunds provided by the German Dachshund Club (DTK).

Procedures: The prevalence of congenital cataract (CC), distichiasis (DIST), hereditary cataract (HC), persistent pupillary membranes (PPMs), persistent hyperplastic tunica vasculosa lentis / persistent hyperplastic primary vitreous (PHTVL/PHPV), progressive retinal atrophy (PRA), retinal dysplasia (RD), and findings such as fiberglass-like cataract (FGC) and prominent suture lines (PSLs) was analyzed. Read More

Ophthal Plast Reconstr Surg 2016 Mar-Apr;32(2):145-9

*University Hospital of Wales, Cardiff, United Kingdom; †Manchester Royal Eye Hospital, Manchester, United Kingdom; ‡Drummoyne Day Surgery Centre, Sydney, Australia; and §Sydney Eye Hospital, Sydney, Australia.

Purpose: To present the results of 1-stage surgical advancement flaps for the repair of large full thickness lower eyelid defects. These avoid the disadvantages of the 2-stage Hughes procedure and provide favorable functional and aesthetic outcomes.

Methods: A retrospective case series of 36 lower eyelid repairs performed on 31 patients by a single surgeon in Sydney, Australia is presented. Read More

BMJ Case Rep 2016 Jan 11;2016. Epub 2016 Jan 11.

Department of Ophthalmology, Garcia de Orta Hospital, Lisbon, Portugal Department of Ophthalmology, Garcia de Orta Hospital, Almada, Portugal.

Cell Reprogram 2015 Aug;17(4):275-87

1 Department of Biomedicine and Prevention, Tor Vergata University of Rome , Rome, 00133, Italy .

The generation of human induced pluripotent stem cells (hiPSCs) derived from an autologous extraembryonic fetal source is an innovative personalized regenerative technology that can transform own-self cells into embryonic stem-like ones. These cells are regarded as a promising candidate for cell-based therapy, as well as an ideal target for disease modeling and drug discovery. Thus, hiPSCs enable researchers to undertake studies for treating diseases or for future applications of in utero therapy. Read More

Canine Genet Epidemiol 2015 2;2:11. Epub 2015 Aug 2.

Animal Genetics, Department of Veterinary Clinical and Animal Science, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Background: Canine distichiasis is a well-known cause of ocular irritation and excessive lacrimation (secretion of tears) in the dog. The term distichiasis originates from the Greek words di and stichos meaning two and rows, respectively, and as the name implies, the condition is characterized by an additional row of cilia, which erupts on the eyelid margin. Many purebred dogs are known to be predisposed to the condition, with many affected individuals within the populations. Read More

J Clin Invest 2015 Oct 21;125(10):3861-77. Epub 2015 Sep 21.

Biomechanical forces, such as fluid shear stress, govern multiple aspects of endothelial cell biology. In blood vessels, disturbed flow is associated with vascular diseases, such as atherosclerosis, and promotes endothelial cell proliferation and apoptosis. Here, we identified an important role for disturbed flow in lymphatic vessels, in which it cooperates with the transcription factor FOXC2 to ensure lifelong stability of the lymphatic vasculature. Read More

CMAJ 2016 Feb 29;188(2):E44. Epub 2015 Jun 29.

St. James's Hospital and Trinity College, Dublin, Ireland

Pan Afr Med J 2015 21;20:55. Epub 2015 Jan 21.

Centre Hospitalier Universitaire - Institut d'Ophtalmologie Tropicale d'Afrique Boulevard du Peuple, Bamako, Mali.

Hum Genome Var 2015 17;2:15032. Epub 2015 Sep 17.

Laboratory of Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences , Tokyo, Japan.

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent neurological damage. We previously identified two FOXC2 mutations in two SEDAC families. The FOXC2 mutations have been shown to be responsible for lymphedema-distichiasis syndrome (LDS), which includes SEDAC as an occasionally associated phenotype. Read More

J Pediatr Genet 2014 Dec;3(4):281-90

College of Ophthalmology and Allied Vision Sciences, King Edward Medical University, Lahore, Pakistan.

The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. Read More

Indian J Hum Genet 2014 Apr;20(2):185-6

Department of Medicine, Muzaffarnagar Medical College and Hospital, Muzaffarnagar, Uttar Pradesh, India.

We present a case of ectopia cilia in a 28-year-old male patient. Ectopia cilia was were seen in the outer third of left upper eyelid. The patient's maternal grandfather also had ectopia cilia of the left upper eyelid as reported by the patient's mother. Read More

J Small Anim Pract 2015 Feb 5;56(2):96-102. Epub 2014 Nov 5.

Department of Companion Animals and Horses, University of Veterinary Medicine, Vienna, 1210, Austria.

Objectives: To determine the types and frequency of ophthalmic findings in pugs.

Materials And Methods: Retrospective analysis of case records of pugs presented to an ophthalmology unit between 2001 and 2012. Ophthalmological findings were correlated with age, gender, presenting signs and time of onset of disease. Read More

Am J Med Genet A 2014 Nov 22;164A(11):2802-7. Epub 2014 Sep 22.

Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, UK.

We describe a five generation family with dominantly inherited lymphedema, but no distichiasis, in which 3/3 affected offspring in the fifth generation have died of fetal hydrops and related birth defects. Mutational analysis disclosed a novel mutation in FOXC2 (R121C) in affected members. We searched for possible genetic influences on the greater severity of lymphedema (hydrops) in the fifth generation. Read More

Clin Exp Dermatol 2014 Aug 1;39(6):731-3. Epub 2014 Jul 1.

Department of Dermatology, No.1 Hospital of China Medical University, China; Department of Dermatology, The People's Hospital of Liaoning Province, China.

Lymphoedema-distichiasis syndrome (LDS) is a syndromic form of primary lymphoedema associated with double rows of eyelashes (distichiasis). Mutations in the FOXC2 gene were reported to be associated with this syndrome. In this study, we identified in a Chinese LDS pedigree a novel FOXC2 gene mutation, C. Read More

Am J Med Genet A 2014 Jun 9;164A(6):1525-9. Epub 2014 Apr 9.

Division of Genetics, Department of Pediatrics, King Abdul Aziz Medical City for National Guard, Riyadh, Saudi Arabia.

The combination of lagophthalmia, euryblepharon, ectropion of lower eyelids, distichiasis, bilateral cleft lip and palate, and oligodontia comprises the blepharo-cheilo-dontic (BCD) syndrome. This combination has been found sporadically or with positive family history and inherited as an autosomal dominant condition with variable expression. We described a Saudi boy with the cardinal signs consistent with the BCD syndrome. Read More

Ophthalmologe 2014 Sep;111(9):853-61

Universitätsaugenklinik Salzburg, Paracelsus Medizinische Privatuniversität, Müllner Hauptstr. 48, 5020, Salzburg, Österreich,

Background: Mucosal grafts from the hard palate for reconstruction of the posterior lamella of the upper eyelid were compared for three different indications. The plastic reconstruction of the upper eyelid was carried out in patients with symblepharon and upper eyelid entropion following an autoimmune disease, in patients with subtotal or total upper eyelid resection due to a neoplasm and in patients with mucous membrane trauma using autogenous mucosal grafts from the hard palate.

Patients: In this retrospective comparative interventional case series 23 eyes from 19 patients were included in whom upper eyelid reconstruction was undertaken at the University Eye Hospital in Salzburg between 2001 and 2012. Read More

J Mal Vasc 2014 Feb 6;39(1):57-61. Epub 2013 Dec 6.

Unité de lymphologie, Centre national de référence des maladies vasculaires rares (lymphœdèmes primaires), hôpital Cognacq-Jay, 15, rue Eugène-Millon, 75015 Paris, France. Electronic address:

Two questions arise when considering the treatment of varicose veins and the development of lymphedema: can the treatment cause lymphedema? Can it worsen it? Primary lymphedema is rarely associated with varicose veins except in the lymphedema-distichiasis syndrome. Data available in the literature is essentially based on surgical treatment. Stripping on a normal limb may induce chronic lymphedema in almost 0. Read More

PLoS One 2013 22;8(11):e80548. Epub 2013 Nov 22.

Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan ; Department of Orthopaedic Surgery, School of Medicine, Keio University, Tokyo, Japan.

Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal that protrudes into the epidural space from a defect in the dura mater. Most cases are sporadic; however, three familial SEDAC cases have been reported, suggesting genetic etiological factors. All familial cases are associated with lymphedema-distichiasis syndrome (LDS), whose causal gene is FOXC2. Read More

Int J Dermatol 2014 Jun 11;53(6):754-5. Epub 2013 Nov 11.

College of Medicine, Mayo Clinic, Rochester, MN, USADivision of Clinical Dermatology, Mayo Clinic, Rochester, MN, USA.

Vet Ophthalmol 2014 Jul 14;17(4):290-3. Epub 2013 Oct 14.

Section of Ophthalmology, Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

A 4-year-old intact male ferret was presented to the Ophthalmology Service of the Department of Clinical Sciences of Companion Animals of Utrecht University with chronic blepharospasm, epiphora, and conjunctivitis of the right eye. Examination of the eye revealed mild conjunctivitis and three hairs protruding from the openings of meibomian glands in the upper eyelid, providing the clinical diagnosis of distichiasis. The distichia were removed by transconjunctival unipolar electrocautery. Read More

Ann Dermatol Venereol 2013 Oct 25;140(10):663-5. Epub 2013 Jul 25.

Service de dermatologie, CHU de Caen, avenue de la Côte-de-Nacre, 14033 Caen cedex 9, France. Electronic address:

Equine Vet J 2014 Jul 6;46(4):458-62. Epub 2013 Nov 6.

Department of Equine Sciences, Faculty of Veterinary Medicine, Utrecht University, The Netherlands.

Reasons For Performing Study: Distichiasis is very uncommon in horses and treatment options and outcome remain unknown.

Objectives: To describe treatment and long-term follow-up of distichiasis in the horse.

Study Design: Retrospective clinical study. Read More

Mol Cell Biol 2013 Oct 22;33(19):3749-61. Epub 2013 Jul 22.

Department of Oncology, CHUV, and Department of Biochemistry, University of Lausanne, Epalinges, Switzerland.

One of the key mechanisms linking cell signaling and control of gene expression is reversible phosphorylation of transcription factors. FOXC2 is a forkhead transcription factor that is mutated in the human vascular disease lymphedema-distichiasis and plays an essential role in lymphatic vascular development. However, the mechanisms regulating FOXC2 transcriptional activity are not well understood. Read More

Curr Opin Ophthalmol 2013 Sep;24(5):463-77

Department of Ophthalmology and Visual Sciences, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.

Purpose Of Review: The molecular basis of a number of inherited diseases that affect the eyelids has been elucidated over the last two decades. Due to the vast number of these diseases, a clinician may become overwhelmed by the volume of data, making it difficult to incorporate newer information into his or her clinical practice. This article intends to review the recent developments of inherited diseases that affect the eyelids that a typical oculoplastic surgeon will encounter. Read More

Indian J Med Sci 2012 May-Jun;66(5-6):141-3

Department of Dermatology, Venereology and Leprosy, Bharati Vidyapeeth University Medical College and Hospital, Pune, India.

Lymphoedema-distichiasis syndrome, a type of familial lymphoedema praecox, is a rare, primary lymphoedema of pubertal onset associated with distichiasis and other associations including congenital heart disease, ptosis, varicose veins, cleft palate, and spinal extradural cysts. We report a case of familial lymphoedema with associated distichiasis, atrial septal defect, varicose veins, and recurrent abortions in a 29-year-old female. Read More

Eur J Dermatol 2013 May-Jun;23(3):411-3

Department of Dermatology The Jikei University School of Medicine 3-25-8 Nishishimbashi, Minato-ku, Tokyo 105-8461 JAPAN.

J Indian Med Assoc 2012 Oct;110(10):747-8

NRS Medical College, Kolkata 70001.

Congenital distichiasis is a rare eyelid anomaly usually running in a family with some systemic disorders. Isolated congenital distichiasis is very rare. A very rare case of sporadic congenital distichiasis with symmetrical four-lid involvement is reported here. Read More

Rev Pneumol Clin 2013 Oct 3;69(5):260-4. Epub 2013 Apr 3.

Service de chirurgie viscérale pédiatrique, hôpital Necker-Enfants-malades, 149, rue de Sèvres, 75015 Paris, France. Electronic address:

Lymphedema associated with other developmental malformations (Milroy syndrome, Hennekam syndrome, Noonan syndrome, Gorham-Stout syndrome, yellow nail syndrome) are unfrequent disease, but explorations led to the identification of genetic mutations that have then been validated in mouse models. However, lymphatic vessels complexity and its proximity with the venous system suggest the need for further researches, especially in the comprehension of pulmonary symptoms. Read More

Klin Monbl Augenheilkd 2013 Jan 21;230(1):43-5. Epub 2012 Nov 21.

Augenärzte, Gemeinschaftspraxis Dr. Goebels und Dr. Handzel, Fulda.

Localised distichiasis and trichiasis with resulting keratopathy leads to considerable impairment for the patient. We present a new technique which enables the surgeon to excise the lash with its follicle to prevent regrowth in a single movement. The procedure does not need any preparation, leaving the lid with minimal concomitant trauma which prevents recurrence of trichiasis. Read More

Lymphology 2012 Mar;45(1):3-12

Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy.

Primary lymphedema is characterized by altered morphological development of lymphatic vessels causing fluid accumulation in interstitial spaces. In familial forms, it is primarily transmitted as a dominant Mendelian trait with heterozygous mutations in genes involved in lymphangiogenesis. We used PCR and direct sequencing to analyze the region of the fms-related tyrosine kinase 4 (FLT4) gene encoding the "tyrosine-kinase domain" and the single exon of the forkhead box C2 (FOXC2) gene in 46 Italian probands with primary lymphedema, 42 of whom had familial forms. Read More

Pediatr Rev 2012 Jul;33(7):327-31

Department of Pediatrics, University of New Mexico, Albuquerque, NM, USA.