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https://www.readbyqxmd.com/read/28707961/encephalocraniocutaneous-lipomatosis-a-case-report-with-review-of-literature
#1
Shaista Siddiqui, Shazia Naaz, Mehtab Ahmad, Zafar Ahmad Khan, Shagufta Wahab, Basmah Abdur Rashid
Encephalocraniocutaneous lipomatosis (ECCL) or Haberland syndrome is an uncommon sporadic neurocutaneous syndrome of unknown origin. The rarity and common ignorance of the condition often makes diagnosis difficult. The hallmark of this syndrome is the triad of skin, ocular and central nervous system (CNS) involvement and includes a long list of combination of conditions. Herein we report a case of a 5-month-old male child who presented to our centre with complaint of seizure. The patient had various cutaneous and ocular stigmatas of the disease in the form of patchy alopecia of the scalp, right-sided limbal dermoid and a nodular skin tag near the lateral canthus of the right eye...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28553398/partial-encephalocraniocutaneous-lipomatosis-syndrome
#2
S Velusamy, S Sindhu Bharathi, B Krishnakumar
Encephalocranial lipomatosis is a rare disorder that characteristically involves ectomesodermal tissues such as skin, eye, and the central nervous system. Here, we report a 3-year-old girl presented with developmental delay, seizures, limbal dermoid, and weakness of right lower limb. Imaging revealed hemiatrophy, arachnoid cyst, and polymicrogyria. The constellation of clinical finding and imaging leads to the diagnosis.
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28316190/-allogeneic-cultured-limbal-epithelial-transplantation-a-clinical-observation-of-its-treatment-effects-on-large-conjunctival-lesions
#3
J Cheng, J Y Wang, H Y Duan, S Wang, L Cong, L X Xie
Objective: To introduce the surgical methods and investigate the treatment effects of conjunctival lesion resection combined with transplantation of allogeneic limbal epithelia cultured in vitro for treatment of varied large conjunctival lesions. Methods: A retrospective analysis of case data of the patients receiving transplantation of allogeneic limbal epithelia cultured in vitro for large conjunctival lesions at Qingdao Eye Hospital from January 2013 to December 2015 was conducted. Fresh donor corneal limbal epithelial tissues were obtained for cellular digestion and isolation...
March 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28003975/preoperative-evaluation-and-outcome-of-corneal-transplantation-for-limbal-dermoids-a-ten-year-follow-up-study
#4
Meng Xin, Yue-Rong Gong, Shan-Hao Jiang, Chun-Hua Dai, Su-Xia Li, Wei-Yun Shi
AIM: To summarize preoperative evaluation and outcome of corneal transplantation for limbal dermoids for ten years. METHODS: Eighty-five patients diagnosed with limbal dermoids and treated with corneal transplantation were analyzed retrospectively. All patients were further divided into two groups according to absence or presence of neovascularization surrounding the dermoids in the corneal stroma. Eighty-two eyes were treated with tumor excision combined with partial lamellar sclerokeratoplasty, and the other three eyes were performed by penetrating keratoplasty...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27755235/late-recognition-of-a-case-of-oculo-auriculo-vertebral-spectrum
#5
Jeylan El Mansoury, Joyce N Mbekeani
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag...
October 13, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27617870/surgical-management-of-limbal-dermoids-using-anterior-corneal-buttons-from-descemet-stripping-automated-endothelial-keratoplasty-donor-tissue-as-patch-grafts
#6
Kuan-I Wu, Hsiao-Sang Chu, Amy Shih-I Pai, Yu-Chih Hou, Szu-Yuan Lin, Wei-Li Chen, Fung-Rong Hu
PURPOSE: To assess the surgical and clinical outcomes of anterior lamellar keratoplasty using anterior corneal buttons from Descemet stripping automated endothelial keratoplasty (DSAEK) donor tissue. METHODS: Retrospective data from 8 patients with unilateral limbal dermoids, treated between February 2011 and January 2016 at National Taiwan University Hospital, were analyzed. Donor corneas for DSAEK were divided into anterior and posterior lamellae using a 350-μm microkeratome...
January 2017: Cornea
https://www.readbyqxmd.com/read/27405313/phenotypic-characterization-of-epibulbar-dermoids
#7
Brian A Walker, Babette S Saltzman, Erin P Herlihy, Daniela V Luquetti
The purpose of this study was to characterize the phenotypic presentation, clinical course, and outcomes of epibulbar dermoids (EpDs) which are the most common congenital eye tumor in children. Sixty-eight dermoids were identified in 58 eyes of 48 patients of Seattle Children's Hospital between 1981 and 2014 via electronic medical record search. Patients were organized into: "EpD-Only" [patients without other congenital anomalies (n = 13)], "EpD-CFM" [patients with a craniofacial microsomia (CFM) diagnosis (n = 25)], and "EpD-Other" [patients with other congenital anomalies (n = 10)]...
July 12, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27281829/sutureless-lamellar-corneoscleral-patch-graft-with-fibrin-sealant-for-limbal-dermoid-removal
#8
Andrew Xingyu Zhou, Balamurali Krishna Ambati
A 2-year-old boy with Goldenhar syndrome had a limbal dermoid removed and covered with a lamellar corneoscleral patch graft that was attached with fibrin glue and no sutures. The graft healed and attached well. A sutureless technique is beneficial due to decreased scarring and chance of infection.
June 3, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27058832/shave-excision-with-keratopigmentation-for-limbal-dermoid
#9
Pooja Bandivadekar, Tushar Agarwal, Shreyas Temkar
OBJECTIVES: To describe a modified technique of corneal tattooing for concomitant cosmetic rehabilitation in eyes with limbal dermoid. STUDY: Case series. METHODS: Three patients between 12 and 20 years of age with grade I limbal dermoid underwent shave excision with corneal tattooing. All patients had dark brown irides. Chemical keratopigmentation was performed over the bed using 2% gold chloride with 1% hydrazine hydrate as reducing agent to yield a dark brown color...
April 6, 2016: Eye & Contact Lens
https://www.readbyqxmd.com/read/26892494/a-microanatomic-abnormality-of-the-lacrimal-gland-associated-with-goldenhar-syndrome
#10
REVIEW
Frederick A Jakobiec, Anna M Stagner, William R Katowitz, Ralph C Eagle
A 12-month-old male infant, noted from birth to have a diffuse right temporal epibulbar thickening that encroached on the limbus inferotemporally, was found to manifest stigmata of Goldenhar syndrome, including a limbal dermoid with vellus hairs, esotropia, astigmatism, fullness and ectropion of the lower eyelid, preauricular skin tag, agenesis of the right kidney, and a supernumerary rib. In the excised epibulbar specimen, in addition to a solid dermoid, lobules of lacrimal gland tissue were interpreted as a portion of the palpebral or orbital lobes...
September 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/26413440/clinical-decision-upon-resection-or-observation-of-ocular-surface-dermoid-lesions-with-the-visual-axis-unaffected-in-pediatric-patients
#11
Toshihiko Matsuo
Ocular surface or epibulbar dermoid lesions may present as limbal dermoids at the corneal limbus or dermolipomas in the conjunctival fornix. The purpose of this study is to review clinical features of ocular surface dermoids (grade I), with the visual axis unaffected, in pediatric patients, in order to find key features for making clinical decision, either resection or observation. The study involved 13 consecutive patients with limbal dermoids or fornix dermolipomas which did not affect the visual axis, seen in 11 years at a referral-based institution...
2015: SpringerPlus
https://www.readbyqxmd.com/read/26045558/transcription-factor-pax6-paired-box-6-controls-limbal-stem-cell-lineage-in-development-and-disease
#12
Gen Li, Fan Xu, Jie Zhu, Michal Krawczyk, Ying Zhang, Jin Yuan, Sherrinal Patel, Yujuan Wang, Ying Lin, Ming Zhang, Huimin Cai, Daniel Chen, Meixia Zhang, Guiqun Cao, Emily Yeh, Danni Lin, Qiao Su, Wen-wen Li, George L Sen, Natalie Afshari, Shaochen Chen, Richard L Maas, Xiang-Dong Fu, Kang Zhang, Yizhi Liu, Hong Ouyang
PAX6 is a master regulatory gene involved in neuronal cell fate specification. It also plays a critical role in early eye field and subsequent limbal stem cell (LSC) determination during eye development. Defects in Pax6 cause aniridia and LSC deficiency in humans and the Sey (Small eye) phenotype in mice (Massé, K., Bhamra, S., Eason, R., Dale, N., and Jones, E. A. (2007) Nature 449, 1058-1062). However, how PAX6 specifies LSC and corneal fates during eye development is not well understood. Here, we show that PAX6 is expressed in the primitive eye cup and later in corneal tissue progenitors in early embryonic development...
August 14, 2015: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/25892046/congenital-complex-corneal-choristoma-associated-with-unilateral-bony-calvarial-defects-subcutaneous-nodules-and-alopecia
#13
Leah A Owen, Joshua Ford, Nick Mamalis, Robert Hoffman, Mark Mifflin
Complex corneal choristoma is a rare finding and its relationship with systemic disease is poorly understood. We present a 3-day-old boy with the constellation of left-sided congenital complex corneal choristoma, limbal dermoid, ipsilateral bony skull defects, and bilateral subcutaneous vascularized nodules with overlying alopecia and scalp nevi. To our knowledge this is the first case of complex choristoma involving the presence of associated bony calvarial defects. This presentation may contribute to a greater understanding of the systemic findings associated with the condition...
April 2015: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/25881973/new-surgical-approach-for-limbal-dermoids-in-children-simple-excision-corneal-tattooing-and-sutureless-limboconjunctival-autograft
#14
Jinho Jeong, Young-Jin Song, Seung-Il Jung, Ji-Won Kwon
PURPOSE: To evaluate the efficacy of combined surgery of simple excision, corneal tattooing, and a sutureless limboconjunctival autograft in pediatric patients with grade 1 limbal dermoids. METHODS: We treated 4 eyes of 4 patients with combined surgery of corneal tattooing and a sutureless limboconjunctival autograft with simple excision of limbal dermoids. Preoperative and postoperative visual acuity, postoperative recovery time, cosmetic improvements, patient compliance, and complication rates were reviewed...
June 2015: Cornea
https://www.readbyqxmd.com/read/25811720/corneal-fine-needle-diathermy-with-adjuvant-bevacizumab-to-treat-corneal-neovascularization-in-children
#15
Uri Elbaz, Kamiar Mireskandari, Carl Shen, Asim Ali
PURPOSE: To report the outcomes of corneal fine needle diathermy (FND) with adjuvant intrastromal and subconjunctival bevacizumab injection for corneal neovascularization (CN) in children. METHODS: Medical records of all children who had undergone FND with adjuvant bevacizumab injection were reviewed retrospectively. Treatment efficacy was evaluated by changes in visual acuity, regression of CN, and clearing of lipid deposits with the aid of slit-lamp color images that were taken before surgical intervention and at last follow-up visit...
July 2015: Cornea
https://www.readbyqxmd.com/read/25772967/ophthalmic-manifestations-of-linear-nevus-sebaceous-organoid-nevus-syndrome
#16
Ayisha Kausar, Saemah Nuzhat Zafar, Sumaira Altaf, Ayesha Khan
Linear Nevus Sebaceous Syndrome (LNSS) is a rare sporadic oculoneurocutaneous disorder, also classified as Organoid Nevus Syndrome. It consists of a triad of midline facial linear nevus sebaceous, central nervous system and ocular abnormalities. To the best of authors' knowledge ophthalmic features of LNSS have never been reported in Pakistani population. We report two cases of LNSS, associated with multiple cutaneous nevus sebaceous lesions, complex ocular choristomas and rare bilateral presentation in one patient...
March 2015: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/24944726/-limbal-dermoid-in-goldenhar-syndrome
#17
Zouheir Hafidi, Rajae Daoudi
No abstract text is available yet for this article.
2013: Pan African Medical Journal
https://www.readbyqxmd.com/read/24881613/encephalocraniocutaneous-lipomatosis-a-case-report-and-review-of-the-literature
#18
REVIEW
Shivcharan L Chandravanshi
Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular examination of the right eye showed hypertrophy of bulbar conjunctiva with limbal dermoid, clouding of cornea, and atypical upper eyelid coloboma. The left eye showed conjunctival congestion and corneal vascularization. Dermatological examination showed alopecia, nevus psiloliparus, focal dermal hypoplasia on forehead, multiple focal aplastic lesions on the scalp, skin tag at canthus, and lipoma in the fronto-temporal region...
May 2014: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/24875001/the-outcomes-of-primary-pediatric-keratoplasty-in-singapore
#19
Jin Rong Low, Arundhati Anshu, Anna Cheng Sim Tan, Hla Myint Htoon, Donald Tiang Hwee Tan
PURPOSE: To evaluate the long-term corneal graft survival and risk factors for graft failure in pediatric eyes. DESIGN: Retrospective, interventional consecutive case series. METHODS: Unilateral eyes of 105 patients aged 16 years and below were included from the Singapore Corneal Transplant Study between April 4, 1991 and April 4, 2011. Corneal graft survival was calculated using Kaplan-Meier survival analysis, and survival distributions were compared using log-rank test...
September 2014: American Journal of Ophthalmology
https://www.readbyqxmd.com/read/24858530/surgical-management-of-corneal-limbal-dermoids-retrospective-study-of-different-techniques-and-use-of-mitomycin-c
#20
S J Lang, D Böhringer, T Reinhard
PURPOSE: We retrospectively studied the efficacy and safety of different surgical approaches to treating pediatric limbal dermoids with regard to intra and postoperative complications. METHODS: The data of 12 consecutive patients (14 eyes), who underwent monocentric surgery of a limbal demoid in the past 9 years, were retrospectively analyzed for intra and postoperative complications. Group one consists of eleven eyes: seven eyes with a bare-sclera deep lamellar excision of the dermoid and four eyes with an additional amniotic membrane transplantation subsequent to excision...
July 2014: Eye
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