Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee
Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee
Guideline of the Japanese Dermatological Association
angioid streaks
clinical practice guideline
pseudoxanthoma elasticum
Journal
The Journal of dermatology
ISSN: 1346-8138
Titre abrégé: J Dermatol
Pays: England
ID NLM: 7600545
Informations de publication
Date de publication:
03 2022
03 2022
Historique:
revised:
22
12
2021
received:
29
08
2021
accepted:
23
12
2021
pubmed:
13
1
2022
medline:
4
3
2022
entrez:
12
1
2022
Statut:
ppublish
Résumé
Pseudoxanthoma elasticum (PXE) is a progressive hereditary disease that affects tissues such as the skin, retina, blood vessels, and gastrointestinal tracts. Therefore, comprehensive medical care across clinical departments specialized in specific organs is needed to provide the best clinical practices to PXE patients. The Japanese version of clinical guidelines developed by the Japanese Dermatological Association was published in 2017, and aimed to promote equal accessibility of PXE-related medical care. Here, the English version of Japanese guideline is reported, and is intended to be worldwide reference for medical care of PXE.
Identifiants
pubmed: 35019155
doi: 10.1111/1346-8138.16301
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e91-e98Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2022 Japanese Dermatological Association.
Références
Ringpfeil F, Lebwohl MG, Christiano AM, Uitto J. Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci USA. 2000;97:6001-6.
Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000;25:223-7.
Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000;25:228-31.
Struk B, Cai L, Zach S, Ji W, Chung J, Lumsden A, et al. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med (Berl). 2000;78:282-6.
Utani A, Tanioka M, Yamamoto Y, Taki R, Araki E, Tamura H, et al. Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol. 2010;37:130-6.
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Utani A, et al. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol. 2017;44:644-50.
Utani A. Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grant “Understanding the pathology of and creating diagnostic criteria for pseudoxanthoma elasticum” 2012 Annual Research Report, Team leader: Atsushi Utani. 2013;6-34. (Evidence level IV)
Utani A. Current status and prospects of studies on pseudoxanthoma elasticum. Jpn J Clin Med. 2014;72:2073-7. (Evidence level IV)
Utani A. “Pseudoxanthoma elasticum” Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grant “Study on rare intractable skin diseases” 2015 Annual Research Report, Team leader: Masayuki Amagai, 2016; 57-64.
Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. Pseudoxanthoma elasticum and skin: clinical manifestations, histopathology, pathomechanism, perspectives of treatment. Rare Dis Res. 2015;4:113-22.
Utani A. “Pseudoxanthoma elasticum” Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grant “Study on rare intractable skin diseases” 2015 Annual Research Report, Team leader: Masayuki Amagai, 2016; 57-64.
Utani A “Pseudoxanthoma elasticum” Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grant “Comprehensive study on a family of rare and intractable genetic skin diseases” 2013 Annual Research Report, Team leader: Takashi Hashimoto, 2014; 72-9.
Iwanaga A, Okubo Y, Yozaki M, Koike Y, Kuwatsuka Y, Utani A, et al. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol. 2017;44:644-50.
Utani A. Research on Measures for Intractable Diseases, Health and Labour Sciences Research Grant ”Understanding the pathology of and creating diagnostic criteria for Pseudoxanthoma elasticum“ 2012 Annual Research Report, Team leader: Atsushi Utani, 2013; 6-34.
Leiden Open Variation Database (LOVD). Available from: http://www.ncbi.nlm.nih.gov/lovd/variants.php?select_db=ABCC6&action=view_all
Al-Rashaed S, Arevalo JF. Long-term follow-up of choroidal neovascularization secondary to angioid streaks. Clin Ophthalmol. 2012;6:1029-34. (Evidence level V)
Rosina C, Romano M, Cigada M, de Polo L, Staurenghi G, Bottoni F. Intravitreal bevacizumab for choroidal neovascularization secondary to angioid streaks: a long-term follow-up study. Eur J Ophthalmol. 2015;25:47-50. (Evidence level V)
Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169-80. (Evidence level V)
Leiden Open Variation Database (LOVD). Available from: http://www.ncbi.nlm.nih.gov/lovd/variants.php?select_db=ABCC6&action=view_all
Nolte KB. Sudden cardiac death owing to pseudoxanthoma elasticum: a case report. Hum Pathol. 2000;31:1002-4.
Christen-Zach S, Huber M, Struk B, Lindpaintner K, Munier F, Panizzon RG, et al. Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data. Br J Dermatol. 2006;155:89-93.
van den Berg JS, Hennekam RC, Cruysberg JR, Steijlen PM, Swart J, Tijmes N, et al. Prevalence of symptomatic intracranial aneurysm and ischaemic stroke in pseudoxanthoma elasticum. Cerebrovasc Dis. 2000;10:315-9.
Vanakker OM, Leroy BP, Coucke P, Bercovitch LG, Uitto J, Viljoen D, et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. 2008;29:205.
Vasseur M, Carsin-Nicol B, Ebran JM, Willoteaux S, Martin L, Leftheriotis G. Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association? Eur J Vasc Endovasc Surg. 2011;42:292-4.
Yasuhara T, Sugiu K, Kakishita M, Date I. Pseudoxanthoma elasticum with carotid rete mirabile. Clin Neurol Neurosurg. 2004;106:114-7.
Leiden Open Variation Database (LOVD). Available from: http://www.ncbi.nlm.nih.gov/lovd/variants.php?select_db=ABCC6&action=view_all
Li Q, Jiang Q, Pfendner E, Varadi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009;18:1-11.
Trip MD, Smulders YM, Wegman JJ, Hu X, Boer JMA, ten Brink JB, et al. Frequent mutation in the ABCC6 gene (R1141X) is associated with a strong increase in the prevalence of coronary artery disease. Circulation. 2002;106:773-5.
Koblos G, Andrikovics H, Prohaszka Z, Tordai A, Varadi A, Aranyi T. The R1141X loss-of-function mutation of the ABCC6 gene is a strong genetic risk factor for coronary artery disease. Genet Test Mol Biomarkers. 2010;14:75-8.
Hornstrup LS, Tybjaerg-Hansen A, Haase CL, Nordestgaard BG, Sillesen H, Frikke-Schmidt R, et al. Heterozygosity for R1141X in ABCC6 and risk of ischemic vascular disease. Circ Cardiovasc Genet. 2011;4:534-41.
Sasai H, Sakakura K, Wada H, Sugawara Y, Ako J, Momomura S. Stiff coronary stenosis in a young female with pseudoxanthoma elasticum. JACC Cardiovasc Interv. 2012;5:112-3. (Evidence level V)
Lodge AJ, Dodd LG, Lowe JE. Arterial conduits should be evaluated preoperatively in coronary artery bypass patients with pseudoxanthoma elasticum. Tex Heart Inst J. 2005;32:576-8; discussion 8. (Evidence level V)
Catherine AM, Terry JZ, Steven FW. Management of upper gastrointestinal hemorrhage in patients with pseudoxanthoma elasticum. Surgery. 1989;105:170-4.
Uitto J, Bercovitch L, Terry SF, Terry PF. Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment: summary of the 2010 PXE International Research Meeting. Am J Med Genet A. 2011;155:1517-26.
Kaplan L, Hartman SW. Elastica disease: case of Gronblad-Strandberg syndrome with gastrointestinal hemorrhage. Arch Intern Med. 1954;94:489.
Eddy DD, Farber EM. Pseudoxanthoma elasticum: Internal manifestations: a report of cases and a statistical review of the literature. Arch Dermatol. 1962;86:729-40.
Minaga K, Yamashita Y, Utani A, Taniguchi Y, Hatamaru K, Uenoyama Y, et al. A case of pseudoxanthoma elasticum with massive gastric hemorrhage after endoscopic biopsy. Gastroenterol Endosc, 2014;56:1756-62. (Evidence level V)
Bardsley JL, Koehler PR. Pseudoxanthoma elasticum: angiographic manifestations in abdominal vessels. Radiology. 1969;93:559-62. (Evidence level V)
Matsuzaki T, Ogawa C, Ho N, Aizawa O. A case of Pseudoxanthoma elasticum with gastrointestinal hemorrhage. J Dermatol. 1986;96:208-9. (Evidence level V).
Itobayashi E, Suzuki T, Ebata T, Ohnishi H, Yoshida S, Asada M. A case of pseudoxanthoma elasticum who died of gastrointestinal hemorrhage. J Gastroenterol. 1990;87:1106-7. (Evidence level V)
Endo M, Seki M, Otake H, Kobayashi H, Satoh H, Kitoh M, et al. A case of pseudoxanthoma elasticum that required gastrectomy and lower extremity revascularization. Surg. 1991;53:1551-4. (Evidence level V).
Uchino K, Katabuchi H, Sakaguchi I, Sonoda N, Arata M, Okamura H, et al. A case of intrauterine growth retardation associated with maternal pseudoxanthoma elasticum. Acta Obst Gynaec Jpn. 2002;54:660-4.
Douglas MJ, Gunka VB, von Dadelszen P. Case report: Anesthesia for the parturient with pseudoxanthoma elasticum. Int J Obstet Anesth. 2003;12:45-7.
Gheduzzi D, Taparelli F, Quaglino D, Di Rico C, Bercovitch L, Terry S, et al. The placenta in pseudoxanthoma elasticum: clinical, structural and immuno-chemical study. Placenta. 2001;22:580-90.
Xiromeritis P, Valembois B. Pseudoxanthoma elasticum and pregnancy. Arch Gynecol Obstet. 2006;273:253-4.
Shintani I, Nakazawa T, Odaka T. A case of pregnancy with pseudoxanthoma elasticum. Teishin Igaku. 1990;42:87-93.
Tanioka M, Utani A, Tamura H, Yoshimura N, Kashiwagi N, Miyachi Y, et al. Calcification of the placenta in a woman with pseudoxanthoma elasticum with a mutation of the ABCC6 gene. J Dermatol. 2014;41:189-91.
Gheduzzi D, Taparelli F, Quaglino D, Di Rico C, Bercovitch L, Terry S, et al. The placenta in pseudoxanthoma elasticum: clinical, structural and immunochemical study. Placenta. 2001;22:580-90.