Unveiling the clinical spectrum of pseudoxanthoma elasticum: A report of two cases
DOI:
https://doi.org/10.66344/jpad.34.2.2024.2792Keywords:
Pseudoxanthoma elasticum, Elastic tissue, Autosomal recessiveAbstract
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder characterized by progressive disintegration as well as calcification of elastic tissue, resulting in cutaneous, ophthalmic, cardiovascular and other systemic abnormalities. It is an autosomal recessive condition caused by alterations in the ABCC6 gene. We report two cases of pseudoxanthoma elasticum with varying degrees of cutaneous and systemic manifestations of the disease. Both patients had characteristic histopathological changes on skin biopsies and fulfilled the diagnostic criteria for definite PXE. The goal is to demonstrate diverse clinical facets of the disease and to emphasize clinical clues for prompt diagnosis in order to minimize the associated complications. ÂReferences
Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005;42(12):881-92
Finger RP, Issa PC, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009;54(2):272-85.
Elgendy A, Alshawadfy E, Ali E, Afify M, Abouelela M. Pseudoxanthoma elasticum: case report. J Clin Exp Dermatol Res. 2016;7(327):2.
Babu RS, Nair IK, Suresh MK, Dalus D. Gronblad Strandberg syndrome with vertibrobasilar dolichoectasia. J Assoc Physicians India. 2011;59:54-7.
Li Q, Jiang Q, Pfendner E, Váradi A, Uitto J. Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms. Exp Dermatol. 2009;18(1):1-1.
Boraldi F, Murro V, Lofaro FD, Mucciolo DP, Costa S, Pavese L, Quaglino D. Phenotypic features and genetic findings in a cohort of Italian Pseudoxanthoma elasticum patients and update of the ophthalmologic evaluation score. J Clin Med. 2021;10(12):2710.
Lebwohl M, Lebwohla E, Bercovitch L. Prominent mental (chin) crease: a new sign of pseudoxanthoma elasticum. J Am Acad Dermatol. 2003;48(4):620-2.
Lee TK, Forooghian F, Cukras C, Wong WT, Chew EY, Meyerle CB. Complementary angiographic and autofluorescence findings in pseudoxanthoma elasticum. Int Ophthalmol. 2010;30:77-9.
Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009;129(2):348-54.
Braun SA, Finis D, Helbig D. Pseudoxanthoma elasticum: More than a skin problem. Der Hautarzt. 2013;64:222-5.
Uitto J, Jiang Q, Váradi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: diagnostic features, classification and treatment options. Expert Opin Orphan Drugs. 2014;2(6):567-77.
LaRusso J, Li Q, Uitto J. Pseudoxanthoma elasticum, the paradigm of heritable ectopic mineralization disorders–can diet help? J Dtsch Dermatol Ges. 2011;9(8):586-93.
Germain DP. Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12(1):1-3.
Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues. Scientifica. 2012;8:30.
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