Title: Periumbilical Perforating Pseudoxanthoma Elasticum / PPPXE – A Rare Case Report
Authors: Dr Prajul Mehta, Dr Ashwani Rana
DOI: https://dx.doi.org/10.18535/jmscr/v9i11.02
Abstract
Pseudoxanthoma elasticum (PXE) is a rare inherited disorder involving degeneration and pathological mineralization of the elastic fibers. It predominantly involves the skin, eyes and cardiovascular system. Periumbilical perforating pseudoxanthoma elasticum (PPPXE) is a rare localized variant of PXE frequently seen in obese, multiparous, middle-aged women. We hereby report a rare case of PPPXE in a multiparous woman, presented with a large yellowish plaque around the umbilicus without any systemic involvement. The other sites usually affected were not involved.
Keywords: PXE, PPPXE, elastic fibres.
References
- 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; 42:881–892.
- Esquivel-Pinto IA, Vega-Memije ME, Alvarado-Delgadillo A, Campuzano-Garcia AE, Manríquez-Robles A. Pseudoxanthoma Elasticum: Report of Two Cases. Case Rep Dermatol. 2021;13(1):230-7.
- Hicks J, Carpenter CL Jr, Reed RJ. Periumbilical perforating pseudoxanthoma elasticum. Arch Dermatol 1979;115:300-3.
- Jha AK, Zeeshan MD, Sinha BK, Singh A, Agrawal P. Periumbilical perforating pseudoxanthoma elasticum: a rare case report. Dermatol Pract Concept. 2018; 8(2):75-7.
- Kocaturk E, Kavala M, Zindanci I, Koc M. Periumbilical perforating pseudoxanthoma elasticum. Indian J Dermatol Venereol Leprol 2009;75:329-3.