Familial pseudoxanthoma elasticum: Report of three case series in a single family
DOI:
https://doi.org/10.66344/jpad.26.4.2016.959Keywords:
Pseudoxanthoma elasticum, ABC6 geneAbstract
Pseudoxanthoma elasticum is a rare autosomal recessive skin disease with a slight female preponderance and often presents a therapeutic challenge due to additional risk to eyes and cardiovascular system. Clumping and distortion of elastic fibres in target organ leads to deposition of calcium and impair the function of elastic fibres of mid and deep dermis, media and intima of midsized arteries, Bruch’s membrane in eye. Here we present three cases in the same family who presented with yellowish flat plaques, papules in the front and lateral side of the neck.References
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.
Pfendner EG, Uitto J, Gerard GF, Terry SF. Pseudoxanthoma elasticum: Genetic diagnostic markers. Expert Opi Mol Diagn. 2008;2:63-79
Neldner KH. Pseudoxanthoma elasticum. Clin Dermatol. 1988;6:1-159.
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.
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;42:881-92.
Finger RP, Issa PC, Ladewig MS, Götting C, Szliska C, Scholl HPN et al. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophthalmol. 2009;54:272-85.
Sherer DW, Bercovitch L, Lebwohl M. Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected off spring. J Am Acad Dermatol. 2001;44:534-7.
Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C et al. Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6. Hum Mutat. 2005;26:235-48.
Li Q, Schurgers LJ, Smith AC, Tsokos M, Uitto J, Cowen EW. Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: Compound heterozygosity for mutations in the GGCX gene. Am J Pathol. 2009;174:534-40.
Johnson BL, Yan AC Jr. Congenital Diseases (Genodermatoses). In: Elder DE, Elenitsas R, Johnson BL, editors. Lever’s Histopathology of Skin, 10th edition. Philadelphia: Lippincott Williams and Wilkins; 2009. P. 152-4.
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