Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria

References

• Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: x-linked sideroblastic anemias and the porphyrias. Metab Mol Basis Inherited Dis. 2001;12:2991–3062.
   Google Scholar
• Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117(4):779–795. doi:10.1046/j.1365-2141.2002.03557.x.
   PubMed Web of Science ®Google Scholar
• Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital erythropoietic porphyria. J Am Acad Dermatol. 1997;36(4):594–610. doi:10.1016/S0190-9622(97)70249-4.
   PubMed Web of Science ®Google Scholar
• Poh-Fitzpatrick MB. The erythropoietic porphyrias. Dermatol Clin. 1986;4(2):291–296. doi:10.1016/S0733-8635(18)30833-7.
   PubMed Web of Science ®Google Scholar
• Laorr A, Greenspan A. Severe osteopenia in congenital erythropoietic porphyria. Can Assoc Radiol J. 1994;45:307–309.
   PubMed Web of Science ®Google Scholar
• Bhavasar R, Santoshkumar G, Prakash BR. Erythrodontia in congenital erythropoietic porphyria. J Oral Maxillofac Pathol. 2011;15(1):69–73. doi:10.4103/0973-029X.80022.
   PubMedGoogle Scholar
• Altiparmak UE, Oflu Y, Kocaoglu FA, Katircioglu YA, Duman S. Ocular complications in 2 cases with porphyria. Cornea. 2008;27(9):1093–1096. doi:10.1097/ICO.0b013e31817e905a.
   PubMed Web of Science ®Google Scholar
• Debjani M, Somnath M. A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations. Middle East Afr J Ophthalmol. 2016;23(1):160–162. doi:10.4103/0974-9233.171771.
   PubMedGoogle Scholar
• Kurihara K, Takamura N, Imaizumi S, Yamashita S, Kondo M. Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria. Br J Ophthalmol. 2001;85(10):1265–1266. doi:10.1136/bjo.85.10.1260f.
   PubMed Web of Science ®Google Scholar
• Sahay P, Dhanda S, Singhal D, Maharana PK, Titiyal JS, Sharma N. Scleritis in congenital erythropoietic porphyria – infective or inflammatory? Indian, J Ophthalmol. 2018;66(10):1467–1468. doi:10.4103/ijo.IJO_513_18.
   PubMed Web of Science ®Google Scholar
• Sati A, Sangwan VS, Basu S. Porphyria: varied ocular manifestations and management. BMJ Case Rep. 2013;9:94–96. doi:10.1136/bcr-2013-009496.
   Google Scholar
• Siddique SS, Gonzalez-Gonzalez LA, Thakuria P, Chang PY, Foster CS. Scleral necrosis in a patient with congenital erythropoietic porphyria. Cornea. 2011;30(1):97–99. doi:10.1097/ICO.0b013e3181e458fa.
   PubMed Web of Science ®Google Scholar
• Venkatesh P, Garg SP, Kumaran E, Tewari HK. Congenital porphyria with necrotizing scleritis in a 9-year-old child. Clin Exp Ophthalmol. 2000;28(4):314–318. doi:10.1046/j.1442-9071.2000.00330.x.
   PubMed Web of Science ®Google Scholar
• Agarwal S, Majumder PD, Srinivasan B, Iyer G. Scleral necrosis in congenital erythropoietic porphyria: a case report and review of the literature. Oman J Ophthalmol. 2015;8(3):200–204. doi:10.4103/0974-620X.169904.
   PubMedGoogle Scholar
• Isanta-Otal C, López-Valverde G, Orobia AJM, Pablo LE. Ocular manifestations in patient with congenital erythropoietic porphyria. Indian, J Ophthalmol. 2019;67(10):1765–1768. doi:10.4103/ijo.IJO_1776_18.
   PubMed Web of Science ®Google Scholar
• Oguz F, Sidal M, Bayram C, Sansoy N, Hekim N. Ocular involvement in two symptomatic congenital erythropoietic porphyria. Eur J Pediatr. 1993;152(8):671–673. doi:10.1007/BF01955245.
   PubMed Web of Science ®Google Scholar
• Hillenkamp J, Reinhard T, Fritsch C, Kersten A, Böcking A, Sundmacher R. Ocular involvement in congenital erythropoietic porphyria (Guenther’s disease): cytopathological evaluation of conjunctival and corneal changes. Br J Ophthalmol. 2001;85(3):371. doi:10.1136/bjo.85.3.371.
   PubMed Web of Science ®Google Scholar
• Fu L, Patel BC. Lagophthalmos. StatPearls. 2001;8:76.
   Google Scholar
• Romeo G, Levin EY. Uroporphyrinogen 3 cosynthetase in human congenital erythropoietic porphyria. Proc Natl Acad Sci U S A. 1969;63(3):856–863. doi:10.1073/pnas.63.3.856.
   PubMed Web of Science ®Google Scholar
• Aizencang G, Solis C, Bishop DF, Warner C, Desnick RJ. Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. Genomics 9. 2000;70(2):223–231. doi:10.1006/geno.2000.6373.
   PubMed Web of Science ®Google Scholar
• Stenson PD, Mort M, Ball EV, Evans K, Hayden M, Heywood S. The human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. Hum Genet. 2017;136(6):665–677. doi:10.1007/s00439-017-1779-6.
   PubMed Web of Science ®Google Scholar
• Warner CA, Poh-Fitzpatrick MB, Zaider EF, Tsai SF, Desnick RJ. Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. Arch Dermatol. 1992;128(9):1243–1248. doi:10.1001/archderm.1992.01680190099013.
   PubMedGoogle Scholar
• Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007;109(6):2618–2621. doi:10.1182/blood-2006-06-022848.
   PubMed Web of Science ®Google Scholar
• Di Pierro E, Russo R, Karakas Z, Brancaleoni V, Gambale A, Kurt I. Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. Eur J Haematol. 2015;94(6):491–497. doi:10.1111/ejh.12452.
   PubMed Web of Science ®Google Scholar
• Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: recent advances. Mol Genet Metab. 2019;128(3):288–297. doi:10.1016/j.ymgme.2018.12.008.
   PubMed Web of Science ®Google Scholar
• Fityan A, Fassihi H, Sarkany R. Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. Clin Exp Dermatol. 2016;41(8):953–954. doi:10.1111/ced.12932.
   PubMed Web of Science ®Google Scholar
• Murphy A, Gibson G, Elder GH, Otridge BA, Murphy GM. Adult-onset congenital erythropoietic porphyria (Gunther’s disease) presenting with thrombocytopenia. J R Soc Med. 1995;88:357–358.
   Web of Science ®Google Scholar
• Rao SU, Dar NR, Abbas M, Mumtaz J. Late onset erythropoietic porphyria (Gunther’s disease). J Coll Physicians Surg Pak. 2011;21:564–566.
   PubMed Web of Science ®Google Scholar
• Sandberg S, Romslo I. Porphyrin-induced photodamage at the cellular and the subcellular level as related to the solubility of the porphyrin. Clin Chim Acta. 1981;109(2):193–201. doi:10.1016/0009-8981(81)90334-X.
   PubMed Web of Science ®Google Scholar
• Foote CS. Definition of type I and type II photosensitized oxidation. Photochem Photobiol. 1991;54(5):659. doi:10.1111/j.1751-1097.1991.tb02071.x.
   PubMed Web of Science ®Google Scholar
• Takeshita K, Takajo T, Hirata H, Ono M, Utsumi H. In vivo oxygen radical generation in the skin of the protoporphyria model mouse with visible light exposure: an Lband ESR study. J Invest Dermatol. 2004;122(6):1463–1470. doi:10.1111/j.0022-202X.2004.22601.x.
   PubMed Web of Science ®Google Scholar
• Brun A, Sandberg S. Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B. 1991;10(4):285–302. doi:10.1016/1011-1344(91)80015-A.
   PubMed Web of Science ®Google Scholar
• Thunell S, Harper P. Porphyrins, porphyrin metabolism, porphyrias. III. Diagnosis, care and monitoring in porphyria cutanea tarda–suggestions for a handling programme. Scand J Clin Lab Invest. 2000;60(7):561–579. doi:10.1080/003655100448338.
   PubMed Web of Science ®Google Scholar
• Maitra D, Carter EL, Richardson R, Rittié L, Basrur V, Zhang H. Oxygen and conformation dependent protein oxidation and aggregation by porphyrins in hepatocytes and light-exposed cells. Cell Mol Gastroenterol Hepatol. 2019;8(4):659–682. doi:10.1016/j.jcmgh.2019.05.010.
   PubMed Web of Science ®Google Scholar
• Maitra D, Elenbaas JS, Whitesall SE, Basrur V, D’Alecy LG, Omary MB. Ambient light promotes selective subcellular proteotoxicity after endogenous and exogenous porphyrinogenic stress. J Biol Chem. 2015;290(39):23711–23724. doi:10.1074/jbc.M114.636001.
   PubMed Web of Science ®Google Scholar
• Singla A, Griggs NW, Kwan R, Snider NT, Maitra D, Ernst SA. Lamin aggregation is an early sensor of porphyria-induced liver injury. J Cell Sci. 2013;126:3105–3112. doi:10.1242/jcs.123026.
   PubMed Web of Science ®Google Scholar
• Schröder M, Kaufman RJ. ER stress and the unfolded protein response. Mutat Res. 2005;569(1–2):29–63. doi:10.1016/j.mrfmmm.2004.06.056.
   PubMed Web of Science ®Google Scholar
• Santoro AM, Lo Giudice MC, D’Urso A, Lauceri R, Purrello R, Milardi D. Cationic porphyrins are reversible proteasome inhibitors. J Am Chem Soc. 2012;134(25):10451–10457. doi:10.1021/ja300781u.
   PubMed Web of Science ®Google Scholar
• Golding JP, Wardhaugh T, Patrick L, Turner M, Phillips JB, Bruce JI. Targeting tumour energy metabolism potentiates the cytotoxicity of 5-aminolevulinic acid photodynamic therapy. Br J Cancer. 2013;109(4):976–982. doi:10.1038/bjc.2013.391.
   PubMed Web of Science ®Google Scholar
• Yang X, Palasuberniam P, Kraus D, Chen B. Aminolevulinic acid-based tumor detection and therapy: molecular Mechanisms and strategies for enhancement. Int J Mol Sci. 2015;16(10):25865–25880. doi:10.3390/ijms161025865.
   PubMed Web of Science ®Google Scholar
• Giunta A, Demin F, Campione E. Dermatitis artefacta in sporadic sclerodermoid hepatitis C virus-associated porphyria cutanea tarda. J Eur Acad Dermatol Venereol. 2009;23(7):849–850. doi:10.1111/j.1468-3083.2008.03049.x.
   PubMed Web of Science ®Google Scholar
• Di Pierro E, Brancaleoni V, Granata F. Advances in understanding the pathogenesis of congenital erythropoietic porphyria. Br J Haematol. 2016;173(3):365–379. doi:10.1111/bjh.13978.
   PubMed Web of Science ®Google Scholar
• Takamura N, Kurihara K, Yamashita S, Kondo M. Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria. Br J Ophthalmol. 2002;86(10):1188. doi:10.1136/bjo.86.10.1188.
   PubMed Web of Science ®Google Scholar
• Schmidt E, Rashid H, Marzano AV, Lamberts A, Di Zenzo G, Diercks GFH. European Guidelines (S3) on diagnosis and management of mucous membrane pemphigoid, initiated by the European Academy of Dermatology and Venereology – Part II. J Eur Acad Dermatol Venereol. 2021;35(10):1926–1948. doi:10.1111/jdv.17395.
   PubMed Web of Science ®Google Scholar
• Geerling G, Maclennan S, Hartwig D. Autologous serum eye drops for ocular surface disorders. Br J Ophthalmol. 2004;88(11):1467–1474. doi:10.1136/bjo.2004.044347.
   PubMed Web of Science ®Google Scholar
• Wang L, Cao K, Wei Z, Baudouin C, Labbé A, Liang Q. Autologous serum eye drops versus artificial tear drops for dry eye disease: a systematic review and meta-analysis of randomized controlled trials. Ophthalmic Res. 2020;63(5):443–451. doi:10.1159/000505630.
   PubMed Web of Science ®Google Scholar
• Valencia Castillo SL, Martín ES, García Frade LJ, García-Miguel FJ. Autologous serum eye drops improve tear production, both lachrymal flow and stability tests and conjunctival impression cytology with transfer in dry eye disease. Blood Transfus. 2021;19(1):45–53. doi:10.2450/2020.0009-20.
   PubMed Web of Science ®Google Scholar
• Stamate AC, Tătaru CP, Zemba M. Emergency penetrating keratoplasty in corneal perforations. Rom J Ophthalmol. 2018;62(4):253–259. doi:10.22336/rjo.2018.39.
   PubMedGoogle Scholar
• Croghan C, Chou CY, Gajree S, Ramaesh K, Anijeet D. Emergency therapeutic penetrating keratoplasty in a tertiary ophthalmic care facility. Eye (Lond). 2018;32(3):655–657. doi:10.1038/eye.2017.216.
   PubMed Web of Science ®Google Scholar
• Maier P, Bohringer D, Reinhard T. Clear graft survival and immune reactions following emergency keratoplasty. Graefes Arch Clin Exp Ophthalmol. 2007;245(3):351–359. doi:10.1007/s00417-006-0410-7.
   PubMed Web of Science ®Google Scholar
• Szaflik JP, Major J, Izdebska J, Lao M, Szaflik J. Systemic immunosuppression with mycophenolate mofetil to prevent corneal graft rejection after high-risk penetrating keratoplasty: a 2-year follow-up study. Graefes Arch Clin Exp Ophthalmol. 2016;254(2):307–314. doi:10.1007/s00417-015-3200-2.
   PubMed Web of Science ®Google Scholar
• Lee BJ, Lewis CD, Perry JD. Exposed porous orbital implants treated with simultaneous secondary implant and dermis fat graft. Ophthal Plast Reconstr Surg. 2010;26(4):273–276. doi:10.1097/IOP.0b013e3181bf24db.
   PubMed Web of Science ®Google Scholar
• Borrelli M, Geerling G, Spaniol K, Witt J. Eye socket regeneration and reconstruction. Curr Eye Res. 2020;45(3):253–264. doi:10.1080/02713683.2020.1712423.
   PubMed Web of Science ®Google Scholar
• Diab MM, Alahmadawy YA. Primary dermis fat grafting for socket reconstruction: retrospective comparison of electrocoagulation versus scalpel dissection for epidermis removal. Clin Ophthalmol. 2020;14:2925–2933. doi:10.2147/OPTH.S267085.
   PubMed Web of Science ®Google Scholar
• Spelt JM, de Rooij FW, Wilson JH, Zandbergen AA. Vitamin D deficiency in patients with erythropoietic protoporphyria. J Inherit Metab Dis. 2010;33(S3):34. doi:10.1007/s10545-008-1037-0.
   Google Scholar
• Heerfordt IM, Lerche CM, Philipsen PA, Wulf HC. The effect of vitamin D recommendations on serum 25-hydroxyvitamin D level in patients with erythropoietic protoporphyria. Nutrition. 2022;93:477. doi:10.1016/j.nut.2021.111477.
   Web of Science ®Google Scholar
• Katugampola RP, Anstey AV, Finlay AY, Whatley S, Woolf J, Mason N. A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. Br J Dermatol. 2012;167(4):888–900. doi:10.1111/j.1365-2133.2012.11154.x.
   PubMed Web of Science ®Google Scholar
• Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. N Engl J Med. 1986;314(16):1029–1031. doi:10.1056/NEJM198604173141607.
   PubMed Web of Science ®Google Scholar
• Tezcan I, Xu W, Gurgey A, Tuncer M, Cetin M, Oner C. Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. Blood. 1998;92(11):4053–4058. doi:10.1182/blood.V92.11.4053.
   PubMed Web of Science ®Google Scholar
• Harada FA, Shwayder TA, Desnick RJ, Lim HW. Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol. 2001;45(2):279–282. doi:10.1067/mjd.2001.114730.
   PubMed Web of Science ®Google Scholar
• Shaw PH, Mancini AJ, McConnell JP, Brown D, Kletzel M. Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature. Bone Marrow Transplant. 2001;27(1):101–105. doi:10.1038/sj.bmt.1702738.
   PubMed Web of Science ®Google Scholar
• Dupuis-Girod S, Akkari V, Ged C, Galambrun C, Kebaïli K, Deybach JC. Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease). Eur J Pediatr. 2005;164(2):104–107. doi:10.1007/s00431-004-1575-x.
   PubMed Web of Science ®Google Scholar
• Martinez Peinado C, Díaz de Heredia C, To-Figueras J, Arias-Santiago S, Nogueras P, Elorza I. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. Pediatr Dermatol. 2013;30(4):484–489. doi:10.1111/pde.12117.
   PubMed Web of Science ®Google Scholar