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Twishaa Sheth, Michelle Attzs, Katya Tambe
Lymphedema-distichiasis syndrome (LDS) is an autosomal dominant condition associated with FOXC2 mutations. Patients with distichiasis are mostly symptomatic, and efforts to deal with their ocular complaints comprise of electrolysis, cryotherapy and a variety of surgical techniques. We describe an enhanced surgical technique for a case of symptomatic distichiasis of the right eye with scarred, irregular eyelid margins secondary to initial cryotherapy, whereby the distorted tarsus was excised to remove the aberrant hair follicles, the levator palpebrae superioris was released to extend the upper lid and prevent lagophthalmos and a mucous membrane graft was used to cover the exposed portion of the tarsal plate...
December 5, 2018: Orbit
Nidhi Gulati, Rachel Katie Morris, Denise Williams, Mark David Kilby
Lymphoedema-distichiasis is an inherited autosomal dominant disorder of the lymphatic system. Rarely, it is associated with fetal hydrops; the risk and severity of which increases with successive generations. The causative gene is a member of the forkhead transcription factor family ( FOXC2 ). We describe a fetus presenting with early-onset, rapidly progressing body wall oedema, bilateral pleural effusions and a pericardial effusion in a mother with known FOXC2 mutation. First trimester chorionic villus sampling confirmed FOXC2 mutation in the fetus when there was only a large nuchal translucency...
June 4, 2018: BMJ Case Reports
Selam Yekta Sendul, Burcu Dirim, Cemile Ucgul Atılgan, Mehmet Demir, Ali Olgun, Semra Tiryaki Demir, Saniye Uke Uzun, Gurcan Dogukan Arsalan, Dilek Guven
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...
January 2018: Arquivos Brasileiros de Oftalmologia
Kelli L Zimmerman, Shelby L Reinstein
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. Fifty eyes of 26 dogs (n = 88 eyelids) were included in the study...
March 1, 2018: Veterinary Ophthalmology
Yoji Ogura, Shoji Yabuki, Shunsuke Fujibayashi, Eijiro Okada, Akio Iwanami, Kota Watanabe, Masaya Nakamura, Morio Matsumoto, Ken Ishii, Shiro Ikegawa
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. Syndromic SEDAC is inherited as a part of lymphedema-distichiasis syndrome caused by mutations in the FOXC2 gene; however, it is often mistaken as sporadic because of low penetrance. It is not reasonable to conduct a genetic testing for all SEDAC patients and their family members...
May 2018: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
Matthew A De Niear, Mark P Breazzano, Louise A Mawn
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.741_742insGG) in the FOXC2 gene. Mutations in the FOXC2 gene are associated with lymphedema-distichiasis syndrome. An important feature of lymphedema-distichiasis syndrome is that distichiasis is typically present prior to the onset of lymphedema...
May 2018: Ophthalmic Plastic and Reconstructive Surgery
Anneke Kievit, Federico Tessadori, Hannie Douben, Ingrid Jordens, Madelon Maurice, Jeannette Hoogeboom, Raoul Hennekam, Sheela Nampoothiri, Hülya Kayserili, Marco Castori, Margo Whiteford, Connie Motter, Catherine Melver, Michael Cunningham, Anne Hing, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Antonio Richieri-Costa, Annette F Baas, Corstiaan C Breugem, Karen Duran, Maarten Massink, Patrick W B Derksen, Wilfred F J van IJcken, Leontine van Unen, Fernando Santos-Simarro, Pablo Lapunzina, Vera L Gil-da Silva Lopes, Elaine Lustosa-Mendes, Max Krall, Anne Slavotinek, Victor Martinez-Glez, Jeroen Bakkers, Koen L I van Gassen, Annelies de Klein, Marie-José H van den Boogaard, Gijs van Haaften
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...
February 2018: European Journal of Human Genetics: EJHG
Ana Beatriz D Grisolia, Christine C Nelson
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. The authors report the case of a 22-year-old male patient who had been treated for distichiasis and followed for 16 years...
March 2018: Ophthalmic Plastic and Reconstructive Surgery
Assaf Rozenberg, Russell Pokroy, Paul Langer, Erez Tsumi, Morris Elias Hartstein
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. The technique involved dividing the anterior and posterior lamella and excising a two mm tarsoconjunctival strip including the abnormal lash follicles, without suturing or mucosal graft...
January 9, 2018: Orbit
Alicia Galindo-Ferreiro, Hind Alkatan, Azza Maktabi, Alberto Gálvez-Ruiz, Silvana Schellini
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. RESULTS: Good cosmesis was obtained in all cases and the lids margins healed completely with good surgical outcome and no lashes contacted the cornea postoperatively...
April 2018: Orbit
Tanja Planinsek Rucigaj, Matija Rijavec, Jovan Miljkovic, Julij Selb, Peter Korosec
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. PATIENTS AND METHODS: Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene...
September 2017: Radiology and Oncology
Hind Manaa Alkatan, Alicia Galindo-Ferreiro, Azza Maktabi, Alberto Galvez-Ruiz, Silvana Schellini
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. In this report, we describe the histopathological findings of three congenital distichiasis cases treated at King Khaled Eye Specialist Hospital (KKESH), Riyadh, Saudi Arabia with discussion on the pathogenesis of such a condition and the differentiating features from ectopic cilia...
July 2017: Saudi Journal of Ophthalmology: Official Journal of the Saudi Ophthalmological Society
Mayoko Tsuji, Masae Morishima, Kazuhiko Shimizu, Shunichi Morikawa, Mikael Heglind, Sven Enerbäck, Taichi Ezaki, Jun Tamaoki
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. Mutant fetuses at embryonic days 10.5-18.5 were obtained from mating of Foxc2+/- mice and then analyzed...
August 2017: Development, Growth & Differentiation
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
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.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
August 2017: American Journal of Medical Genetics. Part A
Hosny Ahmed Zein, M Tarek A Moustafa
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.
2016: GMS Ophthalmology Cases
Paola Papoff, Marco Castori, Lucia Manganaro, Fabio Midulla, Corrado Moretti, Piero Cascone
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. Our report highlights the unusual occurrence of Robin sequence in LDS patients and advises distraction osteogenesis to resolve breathing problems in LDS patients who present with Robin related severe airway obstruction...
September 2016: Journal of Maxillofacial and Oral Surgery
Mohammad Ali A Sadiq, Munib Ur Rehman
The prevalence of congenital ocular malformations has been described to vary from 0.04 to 6.8 per 10,000 live births. The nuclear mutations identified in chronic progressive external ophthalmoplegia harbor multiple mtDNA deletions that include POLG mutations, PEO1 mutations, OPA1 mutations and RRM2B mutations. In Kearns-Sayre syndrome, the spontaneous mitochondrial deletions vary from 1.3 to 8.0 kb subunits of the oxidative phosphorylation enzymes and several t-RNA genes are affected. Oculopharyngeal muscle dystrophy is both autosomal dominant and recessive form...
December 2014: Journal of Pediatric Genetics
Leilei Zhang, Jie He, Bing Han, Linna Lu, Jiayan Fan, He Zhang, Shengfang Ge, Yixiong Zhou, Renbing Jia, Xianqun Fan
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. The FOXC2 gene was amplified and sequenced in all family members. Subcellular localization and luciferase assays were performed to assess the activity of the mutant FOXC2 protein...
2016: International Journal of Biological Sciences
Zi-You Yu, Di Sun, Yi Luo, Ning-Fei Liu
OBJECTIVES: This study aimed to explore the structural and functional characteristics of dermal lymphatic capillaries in patients with chronic LE, specifically focused on the mural cells that are associated with skin lymphatics. METHODS: Forty-four patients (30 primary LE and 14 secondary LE) and eight healthy controls were enrolled in this study. Genetic analysis of the FOXC2 was performed in 18 patients with primary LE. Full-thickness skin was excised and immunohistologically stained for podoplanin and α-SMA...
October 2016: Microcirculation: the Official Journal of the Microcirculatory Society, Inc
Munenari Itoh, Shiho Kawagoe, Hirotaka James Okano, Hidemi Nakagawa
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...
May 2016: Stem Cell Research
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