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Multiple pterygium syndrome — Clinical Guidelines

Overview

Multiple pterygium syndrome encompasses a group of rare genetic disorders characterized by multiple web-like skin folds (pterygia) and various congenital anomalies affecting multiple organ systems, including limbs, face, genitourinary tract, and eyes. 6 10 21

Diagnosis

Clinical Presentation: Presence of multiple pterygia, often involving limbs and face, along with associated congenital anomalies such as cleft lip/palate, digital anomalies, and genitourinary abnormalities. 6 10 21

Genetic Testing: Mutation analysis of genes like IRF6 for popliteal pterygium syndrome can confirm diagnosis. 6 13

Imaging: Ultrasound or MRI may be used to assess internal anomalies, particularly in prenatal or neonatal cases. 25

Management

Surgical Interventions: Pterygium excision with conjunctival autograft to prevent recurrence in ocular manifestations. 3 4

Reconstructive Surgery: Addressing limb and facial anomalies through multidisciplinary surgical approaches. 6 17

Supportive Care: Management of associated complications such as urological anomalies requiring genitoplasty and orchiopexy. 22

Monitoring: Regular follow-up to manage and treat emerging issues related to congenital anomalies. 26

Special Populations

Pediatrics: Early surgical interventions for pterygia and associated anomalies are crucial for optimal outcomes. 25 26

Comorbidities: Careful management of multiple congenital anomalies, including potential complications like malignant hyperthermia in certain cases. 26

Key Recommendations

Genetic Counseling: Essential for families with a history of multiple pterygium syndrome due to its genetic basis. (Evidence: Expert opinion 6 13)

Multidisciplinary Approach: Utilize a team of specialists including ophthalmologists, orthopedic surgeons, and urologists for comprehensive management. (Evidence: Expert opinion 6 22)

Surgical Techniques: Employ pterygium excision with conjunctival autograft to minimize recurrence in ocular pterygia. (Evidence: Moderate 3 4)

Regular Monitoring: Implement routine follow-up to address evolving health issues related to congenital anomalies. (Evidence: Moderate 26)

References

1 Zhang Z, Qian T, Zhu B, Liu H, Sun X, Xu X. Development of a valid and reliable pterygium surgery assessment scale for ophthalmology residents. BMC medical education 2021. link 2 Bilak Ş, Yılmaz S, Bilgin B. Comparison of vitamin D levels between patients with pterygium and healthy subjects. International ophthalmology 2021. link 3 Kositphipat K, Tananuvat N, Choovuthayakorn J. Results of pterygium excision adjunct with conjunctival autograft transplantation for primary pterygium by ophthalmology trainees. International ophthalmology 2016. link 4 Kaufman SC, Jacobs DS, Lee WB, Deng SX, Rosenblatt MI, Shtein RM. Options and adjuvants in surgery for pterygium: a report by the American Academy of Ophthalmology. Ophthalmology 2013. link 5 Qin XJ, Chen HM, Guo L, Guo YY. Low-dose strontium-90 irradiation is effective in preventing the recurrence of pterygia: a ten-year study. PloS one 2012. link 6 Bertelè G, Mercanti M, Gangini GN, Carletti V. A familial case of popliteal pterygium syndrome. Minerva stomatologica 2008. link 7 Ozdemir G, Inanc F, Kilinc M. Investigation of nitric oxide in pterygium. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2005. link80092-4) 8 Sasidharan CK, Ravi KV. Popliteal pterygium syndrome with unusual features. Indian journal of pediatrics 2004. link 9 Troutbeck R, Hirst L. Review of treatment of pterygium in Queensland: 10 years after a primary survey. Clinical & experimental ophthalmology 2001. link 10 Aslan Y, Erduran E, Kutlu N. Autosomal recessive multiple pterygium syndrome: a new variant?. American journal of medical genetics 2000. link93:3<194::aid-ajmg6>3.0.co;2-x) 11 Twelker JD, Bailey IL, Mannis MJ, Satariano WA. Evaluating pterygium severity: a survey of corneal specialists. Cornea 2000. link 12 Saw SM, Banerjee K, Tan D. Risk factors for the development of pterygium in Singapore: a hospital-based case-control study. Acta ophthalmologica Scandinavica 2000. link 13 Cardoso ER, Hawary MB, Mahmud S. A recessively inherited non-lethal form of popliteal pterygium syndrome. The British journal of oral & maxillofacial surgery 1998. link90183-8) 14 Snibson GR, Luu CD, Taylor HR. Pterygium surgery in Victoria: a survey of ophthalmologists. Australian and New Zealand journal of ophthalmology 1998. link 15 Soekarman D, Cobben JM, Vogels A, Spauwen PH, Fryns JP. Variable expression of the popliteal pterygium syndrome in two 3-generation families. Clinical genetics 1995. link 16 Bhatti SM. Pterygium removal: knife excision versus modified evulsion technique. Ophthalmic surgery 1994. link 17 Spauwen PH, Cobben JM, Gardeniers JW. The popliteal pterygium syndrome: an analysis of two families. Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery 1994. link80076-9) 18 Nethercott JR, Davidoff LL, Curbow B, Abbey H. Multiple chemical sensitivities syndrome: toward a working case definition. Archives of environmental health 1993. link 19 Koch H, Grzonka M, Koch J. Popliteal pterygium syndrome with special consideration of the cleft malformation: case report. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 1992. link 20 Ibechukwu BI. Simultaneous pterygium and intraocular surgery. The British journal of ophthalmology 1990. link 21 Hunter A. The popliteal pterygium syndrome: report of a new family and review of the literature. American journal of medical genetics 1990. link 22 Cunningham LN, Keating MA, Snyder HM, Duckett JW. Urological manifestations of the popliteal pterygium syndrome. The Journal of urology 1989. link41049-4) 23 Froster-Iskenius UG, Curry C, Philp M, Hall JG. Brief clinical report: an unusual bandlike web in an infant with lethal multiple pterygium syndrome. American journal of medical genetics 1988. link 24 Deskin RW, Sawyer DG. Popliteal pterygium syndrome. International journal of pediatric otorhinolaryngology 1988. link90046-8) 25 Naguib KK, Teebi AS, Al-Awadi SA, Moosa A, Ali NR. Multiple pterygium syndrome in five Arab sibs. Annales de genetique 1987. link 26 Robinson LK, O'Brien NC, Puckett MC, Cox MA. Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clinical genetics 1987. link 27 Khan SN, Hufnagle KG, Pool R. Intrafamilial variability of popliteal pterygium syndrome: a family description. The Cleft palate journal 1986. link 28 Lembo G, Montesano M, Balato N. Complete pterygium unguis. Cutis 1985. link 29 Papadia F, Zimbalatti F, La Rosa CG. The Bartsocas-Papas syndrome: autosomal recessive form of popliteal pterygium syndrome in a male infant. American journal of medical genetics 1984. link 30 Audino G, Tenconi R, Clementi M, Saia OS, Cordioli GP. Popliteal pterygium syndrome presenting with orofacial abnormalities. Report of a family. Journal of maxillofacial surgery 1984. link80240-4) 31 Chen H, Blumberg B, Immken L, Lachman R, Rightmire D, Fowler M et al.. The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome. American journal of medical genetics 1983. link 32 Hall JG, Reed SD, Rosenbaum KN, Gershanik J, Chen H, Wilson KM. Limb pterygium syndromes: a review and report of eleven patients. American journal of medical genetics 1982. link 33 Vorkas AP. Pterygium. Choice of operation. Transactions of the ophthalmological societies of the United Kingdom 1981. link 34 Pashayan HM, Lewis MB. A family with the popliteal pterygium syndrome. The Cleft palate journal 1980. link 35 English FP, Yates WH, Kirkwood R, Siu S. The conjunctival goblet cell in pterygium formation. Australian journal of ophthalmology 1980. link 36 Zolli CL. Experience with the avulsion technique in pterygium surgery. Annals of ophthalmology 1979. link 37 Escobar V, Weaver DD. The facio-genito-popliteal syndrome. Birth defects original article series 1978. link

Multiple pterygium syndrome