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Pterygium

MedGen UID:
504703
Concept ID:
CN000994
Finding
Synonyms: Pterygia
 
HPO: HP:0001059

Definition

Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. [from HPO]

Conditions with this feature

Neu-Laxova syndrome
MedGen UID:
78537
Concept ID:
C0265218
Congenital Abnormality
Kyphomelic dysplasia
MedGen UID:
140930
Concept ID:
C0432239
Disease or Syndrome
Bruck syndrome 2
MedGen UID:
373129
Concept ID:
C1836602
Disease or Syndrome
PHAVER syndrome
MedGen UID:
376670
Concept ID:
C1849928
Disease or Syndrome
Bruck syndrome 1
MedGen UID:
342431
Concept ID:
C1850168
Disease or Syndrome
Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck Syndrome Bruck syndrome-2 (609220) is caused by homozygous mutation in the PLOD2 gene (601865) on chromosome 3q23-q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.
Epidermolysis bullosa with pyloric atresia
MedGen UID:
384018
Concept ID:
C1856934
Disease or Syndrome
Epidermolysis bullosa with pyloric atresia (EB-PA) is characterized by fragility of the skin and mucous membranes, manifested by blistering with little or no trauma; congenital pyloric atresia; and ureteral and renal anomalies (dysplastic/multicystic kidney, hydronephrosis/hydroureter, ureterocele, duplicated renal collecting system, absent bladder). The course of EB-PA is usually severe and often lethal in the neonatal period. Most affected children succumb as neonates; those who survive may have severe blistering with formation of granulation tissue on the skin around the mouth, nose, fingers, and toes, and internally around the trachea. However, some affected individuals have little or no blistering later in life. Additional features shared by EB-PA and the other major forms of EB include congenital localized absence of skin (aplasia cutis congenita) affecting the extremities and/or head, milia, nail dystrophy, scarring alopecia, hypotrichosis, contractures, and dilated cardiomyopathy.
Pterygium of the conjunctiva and cornea
MedGen UID:
356779
Concept ID:
C1867441
Disease or Syndrome
Pterygium of the conjunctive refers to a wing-shaped thickening in the bulbar conjunctiva. The process begins near one corner of the eye, most commonly the inner canthus. The progressive head is typically fleshy and can infiltrate the cornea and block vision. Surgical excision is curative, although recurrence may occur after surgical removal (summary by Hecht and Shoptaugh, 1990).
Pterygia, mental retardation and distinctive craniofacial features
MedGen UID:
357988
Concept ID:
C1867443
Disease or Syndrome
Arthrogryposis multiplex congenita
MedGen UID:
419371
Concept ID:
C2931264
Disease or Syndrome
Arthrogryposis multiplex congenita (AMC) is a heterogeneous group of disorders characterized by congenital nonprogressive joint contractures, with a worldwide incidence of 1 in 3,000 live births. AMC can occur in the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth (summary by Markus et al., 2012). There is also a distal form of arthrogryposis multiplex congenita (see DA1A, 108120) and a lethal congenital form (see LCCS1, 253310).

Recent clinical studies

Etiology

Chen T, Ding L, Shan G, Ke L, Ma J, Zhong Y
Invest Ophthalmol Vis Sci 2015 Jan 27;56(2):1109-17. doi: 10.1167/iovs.14-15994. PMID: 25626966Free PMC Article
Kim YJ, Yoo SH, Chung JK
Invest Ophthalmol Vis Sci 2014 Nov 18;55(12):7925-33. doi: 10.1167/iovs.14-15288. PMID: 25406286
Gharaee H, Shayegan MR, Khakzad MR, Kianoush S, Varasteh AR, Sankian M, Meshkat M
Int Ophthalmol 2014 Dec;34(6):1175-81. Epub 2014 Oct 26 doi: 10.1007/s10792-013-9876-6. [Epub ahead of print] PMID: 25344752
Rong SS, Peng Y, Liang YB, Cao D, Jhanji V
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6235-43. doi: 10.1167/iovs.14-15046. PMID: 25190665
Pérez-Rico C, Pascual G, Sotomayor S, Asúnsolo Á, Cifuentes A, García-Honduvilla N, Buján J
Invest Ophthalmol Vis Sci 2014 Sep 2;55(10):6309-18. doi: 10.1167/iovs.14-14214. PMID: 25183766

Diagnosis

Ly SV, Kawasaki BS, Matson ME
Optom Vis Sci 2015 Apr;92(4 Suppl 1):S14-9. doi: 10.1097/OPX.0000000000000526. PMID: 25730334
Rong SS, Peng Y, Liang YB, Cao D, Jhanji V
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6235-43. doi: 10.1167/iovs.14-15046. PMID: 25190665
Hsu MY, Lee HN, Liang CY, Wei LC, Wang CY, Lin KH, Shen YC
Cornea 2014 Jul;33(7):712-5. doi: 10.1097/ICO.0000000000000149. PMID: 24858021
Altinkaynak H, Demircan A, Kocasaraç C, Kara N, Dundar H, Altan Ç, Demirok A
Cont Lens Anterior Eye 2014 Jun;37(3):153-6. Epub 2013 Oct 26 doi: 10.1016/j.clae.2013.09.010. [Epub ahead of print] PMID: 24169502
Nava-Castañeda A, Olvera-Morales O, Ramos-Castellon C, Garnica-Hayashi L, Garfias Y
Clin Experiment Ophthalmol 2014 Apr;42(3):235-41. Epub 2013 Jul 5 doi: 10.1111/ceo.12140. [Epub ahead of print] PMID: 23777441

Therapy

Almeida Junior GC, Arakawa L, Santi Neto Dd, Cury PM, Lima Filho AA, Sousa SJ, Alves MR, Azoubel R
Arq Bras Oftalmol 2015 Jan-Feb;78(1):1-5. doi: 10.5935/0004-2749.20150002. PMID: 25714528
Kwon SH, Kim HK
Medicine (Baltimore) 2015 Jan;94(4):e518. doi: 10.1097/MD.0000000000000518. PMID: 25634207
Chen T, Ding L, Shan G, Ke L, Ma J, Zhong Y
Invest Ophthalmol Vis Sci 2015 Jan 27;56(2):1109-17. doi: 10.1167/iovs.14-15994. PMID: 25626966Free PMC Article
Rong SS, Peng Y, Liang YB, Cao D, Jhanji V
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6235-43. doi: 10.1167/iovs.14-15046. PMID: 25190665
Nava-Castañeda A, Olvera-Morales O, Ramos-Castellon C, Garnica-Hayashi L, Garfias Y
Clin Experiment Ophthalmol 2014 Apr;42(3):235-41. Epub 2013 Jul 5 doi: 10.1111/ceo.12140. [Epub ahead of print] PMID: 23777441

Prognosis

Almeida Junior GC, Arakawa L, Santi Neto Dd, Cury PM, Lima Filho AA, Sousa SJ, Alves MR, Azoubel R
Arq Bras Oftalmol 2015 Jan-Feb;78(1):1-5. doi: 10.5935/0004-2749.20150002. PMID: 25714528
Chen T, Ding L, Shan G, Ke L, Ma J, Zhong Y
Invest Ophthalmol Vis Sci 2015 Jan 27;56(2):1109-17. doi: 10.1167/iovs.14-15994. PMID: 25626966Free PMC Article
Rong SS, Peng Y, Liang YB, Cao D, Jhanji V
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6235-43. doi: 10.1167/iovs.14-15046. PMID: 25190665
Sul S, Korkmaz Ş, Novruzlu Ş
Cornea 2014 May;33(5):504-6. doi: 10.1097/ICO.0000000000000097. PMID: 24619168
Yu HC, Lin CL, Chen ZT, Hu FR, Sung FC, Wang IJ
Ocul Surf 2014 Jan;12(1):69-76. Epub 2013 Oct 18 doi: 10.1016/j.jtos.2013.08.003. [Epub ahead of print] PMID: 24439048

Clinical prediction guides

Goñi N, Bidaguren A, Macías-Murelaga B, Alberdi T, Martinez-Soroa I, Mendicute J
Cornea 2015 Jan;34(1):60-4. doi: 10.1097/ICO.0000000000000280. PMID: 25357079
Kormanovski A, Parra F, Jarillo-Luna A, Lara-Padilla E, Pacheco-Yépez J, Campos-Rodriguez R
BMC Ophthalmol 2014 Nov 27;14:149. doi: 10.1186/1471-2415-14-149. [Epub ahead of print] PMID: 25428713Free PMC Article
Kim YJ, Yoo SH, Chung JK
Invest Ophthalmol Vis Sci 2014 Nov 18;55(12):7925-33. doi: 10.1167/iovs.14-15288. PMID: 25406286
Ozsutcu M, Arslan B, Erdur SK, Gulkilik G, Kocabora SM, Muftuoglu O
Cornea 2014 Nov;33(11):1174-8. doi: 10.1097/ICO.0000000000000221. PMID: 25255132
Economopoulou M, Masjkur J, Raiskup F, Ebermann D, Saha S, Karl MO, Funk R, Jaszai J, Chavakis T, Ehrhart-Bornstein M, Pillunat LE, Kunz-Schughart L, Kurth I, Dubrovska A, Androutsellis-Theotokis A
Int J Radiat Biol 2014 Aug;90(8):700-9. Epub 2014 Mar 25 doi: 10.3109/09553002.2014.892228. [Epub ahead of print] PMID: 24512568

Recent systematic reviews

Rong SS, Peng Y, Liang YB, Cao D, Jhanji V
Invest Ophthalmol Vis Sci 2014 Sep 4;55(10):6235-43. doi: 10.1167/iovs.14-15046. PMID: 25190665
Hu Q, Qiao Y, Nie X, Cheng X, Ma Y
Cornea 2014 Feb;33(2):154-60. doi: 10.1097/ICO.0000000000000037. PMID: 24326333
Kaufman SC, Jacobs DS, Lee WB, Deng SX, Rosenblatt MI, Shtein RM
Ophthalmology 2013 Jan;120(1):201-8. Epub 2012 Oct 11 doi: 10.1016/j.ophtha.2012.06.066. [Epub ahead of print] PMID: 23062647
Xu Y, Zhou HM, Li J, Ke BL, Xu X
Chin Med J (Engl) 2012 Oct;125(20):3730-4. PMID: 23075733
Zheng K, Cai J, Jhanji V, Chen H
Cornea 2012 Dec;31(12):1422-7. doi: 10.1097/ICO.0b013e31823cbecb. PMID: 22643650

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