Am J Med Genet A 2017 May 23. 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 FOXC2 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 May 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.

Am J Med Genet A 2012 Apr 9;158A(4):839-49. Epub 2012 Mar 9.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109-5618, USA.

Two hereditary syndromes, lymphedema-distichiasis (LD) syndrome and blepharo-chelio-dontic (BCD) syndrome include the aberrant growth of eyelashes from the meibomian glands, known as distichiasis. LD is an autosomal dominant syndrome primarily characterized by distichiasis and the onset of lymphedema usually during puberty. Mutations in the forkhead transcription factor FOXC2 are the only known cause of LD. Read More

Gene 2012 Apr 14;498(1):96-9. Epub 2012 Feb 14.

Department and Clinic of Orthopaedic and Traumatologic Surgery-Division of Rehabilitation, Wroclaw Medical University, Borowska str. 213, 50-556 Wroclaw, Poland.

Lymphoedema-distichiasis syndrome (LDS, OMIM #153400) is a genetic disorder with an autosomal dominant pattern of inheritance caused by mutations in the FOXC2 gene. Affected individuals typically present with lower extremity lymphoedema and distichiasis. The most common types of mutations in FOXC2 gene include small deletions and insertions, but duplications, duplications-insertions, missense and nonsense mutations were also found. Read More

Vet Ophthalmol 2012 Mar 29;15(2):92-7. Epub 2011 Sep 29.

Department of Clinical Sciences, National Veterinary School, 23 chemin des Capelles BP 87614, 31076 Toulouse Cedex 3, France.

Objective: To describe the histologic features of canine distichiasis using excised tarsoconjunctival specimens that included roots of distichiatic cilia.

Procedures: The study group included 21 strips of cilia-bearing tarsoconjunctiva resected from 20 dogs with distichiasis. Eyelid tissue specimens were also collected from 11 euthanized dogs without distichiasis to serve as controls. Read More

Vet Ophthalmol 2011 Sep;14 Suppl 1:130-4

Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

A 2-year-old male castrated Domestic Short-haired cat presented to the Ophthalmology Service at the Matthew J. Ryan Veterinary Hospital at the University of Pennsylvania for evaluation of chronic bilateral ocular discharge and blepharospasm. Initial ophthalmic examination revealed severe conjunctivitis and keratitis and the presence of upper eyelid distichiae bilaterally. Read More

J Med Genet 2011 Oct;48(10):716-20

Department of Human Genetics, National Institute of Pediatrics of Mexico, Mexico City, Mexico.

Background: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive inheritance. Mexican-Nahua sibs with facial and ophthalmologic features of FFDD type III were evaluated. Read More

Eur J Pediatr 2012 Mar 15;171(3):447-50. Epub 2011 Sep 15.

University Hospital of Leuven, Herestraat 49, 3000 Leuven, Belgium.

Unlabelled: Non-immune hydrops fetalis may find its origin within genetically determined lymphedema syndromes, caused by mutations in FOXC2 and SOX-18. We describe a newborn girl, diagnosed with non-immune hydrops fetalis at a gestational age of 30 weeks. Family history revealed the presence of an autosomal dominant late-onset form of lymphedema of the lower limbs in her father, associated with an aberrant implantation of the eyelashes in some individuals. Read More

Am J Ophthalmol 2011 Oct 17;152(4):600-608.e1. Epub 2011 Jun 17.

Ocular Surface Center and Ocular Surface Research & Education Foundation, Miami, Florida 33173, USA.

Purpose: To evaluate the efficacy of oral mucosal graft to correct not only lid margin keratinization and trichiasis or distichiasis, but also incomplete closure in severe cicatricial ocular surface diseases.

Design: Retrospective, noncomparative, interventional case series.

Methods: Twenty-two eyes (39 eyelids) of 19 patients received an oral mucosal graft during lid margin reconstruction from September 2007 through February 2010. Read More

Histochem Cell Biol 2011 Jun 26;135(6):603-13. Epub 2011 May 26.

Department of Surgery, The University of Arizona, Tucson, AZ, USA.

Dysmorphogenesis of lymph nodes displayed in a fork head transcription factor Foxc2 haploinsufficient mice--a model for lymphedema-distichiasis syndrome--was studied by immunohistochemistry and electron microscopy. The Foxc2 heterozygous mice manifested lymph node hyperplasia composed of conspicuous proliferation of endothelial cells forming the lymphatic sinus and α-smooth muscle actin (SMA)-immunopositive fibroblast-like cells in the lymphatic pulp, particularly around the sinus. The hyperplastic sinus endothelial cells and the SMA-positive cells demonstrated distinct immunolocalization of platelet-derived growth factor (PDGF)-B, a crucial chemoattractant for vascular mural cell recruitment, and its receptor, PDGFR-β, respectively. Read More

Dev Biol 2011 Jun 16;354(2):253-66. Epub 2011 Apr 16.

Department of Physiology, University of Arizona, Tucson, AZ 85724, USA.

Intraluminal valves are required for the proper function of lymphatic collecting vessels and large lymphatic trunks like the thoracic duct. Despite recent progress in the study of lymphvasculogenesis and lymphangiogenesis, the molecular mechanisms controlling the morphogenesis of lymphatic valves remain poorly understood. Here, we report that gap junction proteins, or connexins (Cxs), are required for lymphatic valvulogenesis. Read More

Pediatr Neurol 2011 May;44(5):381-4

Division of Neurology, Department of Pediatrics, Robert Wood Johnson School of Medicine, and Children's Regional Hospital and Cooper University Hospital, Camden, New Jersey, USA.

A new syndrome of the major form of hyperekplexia with neonatal onset is described. An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia. Despite extensive genetic evaluation, no cytogenetic or molecular etiologies were identified. Read More

J Vasc Res 2011 4;48(5):397-407. Epub 2011 Apr 4.

Cardiac and Vascular Sciences (Dermatology), St. George's, University of London, London, UK.

Background: Human lymphoedema distichiasis syndrome (LDS) results from germline mutations in transcription factor FOXC2. In a mouse model, lack of lymphatic and venous valves is observed plus abnormal smooth muscle cell recruitment to initial lymphatics. We investigated the mechanism of lymphoedema in humans with FOXC2 mutations, specifically the effect of gravitational forces on dermal lymphatic function. Read More