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Colegio de Medicina Interna de México.

2023, Number 5

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Med Int Mex 2023; 39 (5)

Value of diagnostic earliness of pseudoxanthoma elasticum

Ávila RA, Pulido MJJ, David PE

Language: Spanish
References: 12
Page: 804-810
PDF size: 261.32 Kb.


ABSTRACT

Background: Pseudoxanthoma elasticum is a connective tissue metabolic disease of autosomal recessive inheritance due to mutations in the ABCC6 gene in the chromosome 16p13.1 with a prevalence of 1:25,000 to 100,000 inhabitants with a slight predominance in women. This defect causes calcification and progressive fragmentation of elastic fibers in the skin, eyes, gastrointestinal and cardiovascular systems.
Clinical case: A 28-year-old female patient consulted a dermatologist due to a progressive growth dermatosis of 10 years of evolution with onset in the postpartum period at 18 years of age, located on the anterior region of the neck with a rough light brown surface giving a yellowish papule lesion appearance with a 2.5 x 2.5 cm diameter with no current growth evolution. In view of the pseudoxanthoma elasticum suspicion, cardiologic and ophthalmologic evaluation and a skin biopsy were requested. In the histopathological report the Verhoeff-Van Gieson stain evidenced short, curled, and frayed basophilic elastic fibers and the hematoxylin and eosin stain showed calcium deposits in intracellular spaces, twisted collagen fibers and filamentous material.
Conclusions: Early diagnosis of pseudoxanthoma elasticum can modify and reduce its morbidity and mortality.


REFERENCES

  1. Moreyra Vargas Machuca M, Solís-Reyes A, Chian García C,Aguilar García K. Pseudoxantoma elástico. Dermatol Peru 2020; 30 (2): 157-159.

  2. Germain DP. Pseudoxanthoma elasticum. Orphanet J RareDis 2017; 12 (1): 85. doi: 10.1186/s13023-017-0639-8.

  3. Bercovitch L, Uitto J. Pseudoxanthoma elasticum. UpToDateWaltham [en línea]. Dirección URL: .

  4. Lucas C, Aranha J, da Rocha I, Sousa D. Case report: Pseudoxanthomaelasticum. F1000Research 2020; 9: 9. https://doi.org/10.12688/f1000research.21431.1.

  5. López JM, Irós M. Neovascularización coroidea en estríasangioides. Revista OCE 2020; 13 (1): 41-47.

  6. Butrón-Bernal P, Hurtado-Paredes R, Bouroncle-Díaz delOlmo M, Llerena-Concha Y, Postigo-McDowall M. Pseudoxantomaelástico con complicaciones tardías y asociacionesinfrecuentes. Dermatol Perú 2008;18(2):112-117.

  7. Kang S, Amagai M, Bruckner A, Enk A, et al. Fitzpatrick’sdermatology. 9th ed. New York: McGraw-Hill, 2019:1229-1233.

  8. Roach ES, Islam MP. Pseudoxanthoma elasticum. HandbClin Neurol 2015; 132: 215-21. DOI: 10.1016/B978-0-444-62702-5.00015-9.

  9. Stembridge N, Rytina E, Holden S, Burrows NP. Pseudoxanthomaelasticum presenting without typical skinchanges. Clin Exp Dermatol 2020; 45: 518-20. doi: 10.1111/ced.14177.

  10. Teixeira LR, Chahud F, Simao JC, Souza CS, Motta ACF.Cutaneous and oral manifestations of pseudoxanthomaelasticum: clinicopathological features of an uncommondisorder. Clin Exp Dermatol 2021; 46: 727-763. doi:10.1111/ced.14549.

  11. Lebwohl M, Neldner K, Pope FM, De Paepe A, et al. Classificationof pseudoxanthoma elasticum: Report of a consensusconference. J Am Acad Dermatol 1994; 30 (1): 103-107.DOI: https://doi.org/10.1016/s0190-9622(08)81894-4.

  12. Plomp AS, Toonstra J, Bergen AA, van Dijk MR, et al.Proposal for updating the pseudoxanthoma elasticumclassification system and a review of the clinical findings.Am J Med Genet A 2010; 152a: 1049-58. doi: 10.1002/ajmg.a.33329.




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