Main Article Content
psuedoxanthoma elasticum, pxe, pulmonary, lung
Background: Pseudoxanthoma Elasticum is a hereditary disease characterized by calcification of elastic fibers that result in cutaneous, ophthalmologic, and cardiovascular complications. As the pulmonary system contains multiple cell types with abundant elastic fibers, pulmonary manifestations are expected yet not often observed.
Objective: To review current literature reporting cases of pulmonary manifestations in patients with pseudoxanthoma elasticum.
Methods: A search of the PubMed computerized database limited to English language case reports and cross-sectional cohort studies as of December 2020 was performed using the key words “pseudoxanthoma elasticum”, “PXE”, “pulm*”, and “lung”.
Results: A total of 15 patients with clinical, radiologic, or histologic pulmonary manifestations of PXE were identified across four case reports and one cohort study. Patients who did present with pulmonary symptoms were exceedingly rare and reported only progressive exertional dyspnea.
Discussion: Histologic and/or radiologic investigation of PXE patients who presented with progressive exertional dyspnea revealed calcification and irregularity of the elastic laminae in the pulmonary vasculature, the alveolar septa or both. Additionally, spirometry and diffusion studies in PXE patients revealed a restrictive pattern of lung disease with significantly decreased absolute total lung capacity compared to controls.
Conclusions: PXE patients with pulmonary symptoms severe enough to have clinical impact are exceedingly rare, and thus investigative workup is not often pursued. Further research is needed to elucidate the clinical impact of lung calcification in PXE patients.
2. Ringpfeil F, McGuigan K, Fuchsel L, et al. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006;126(4):782-786. doi:10.1038/sj.jid.5700115
3. Mecham RP. Elastin in lung development and disease pathogenesis. Matrix Biol. 2018 Nov;73:6-20. doi: 10.1016/j.matbio.2018.01.005. Epub 2018 Jan 11. PMID: 29331337; PMCID: PMC6041195.
4. Miki K, Yuri T, Takeda N, Takehana K, Iwasaka T, Tsubura A. An autopsy case of pseudoxanthoma elasticum: histochemical characteristics. Med Mol Morphol. 2007 Sep;40(3):172-7. doi: 10.1007/s00795-007-0368-5. Epub 2007 Sep 18. PMID: 17874051.
5. Montani D, Jaïs X, Humbert M, Sitbon O. Pulmonary Hypertension Complicating Pulmonary Artery Involvement in Pseudoxanthoma Elasticum. Am J Respir Crit Care Med. 2020 Sep 1;202(5):e90-e91. doi: 10.1164/rccm.202002-0248IM. PMID: 32413269.
6. Yamamoto N, Hasegawa H, Sakamoto H, Numata H, Fukuda T, Komatsu S, Kido Y. [Pseudoxanthoma elasticum with pulmonary calcification]. Nihon Kyobu Shikkan Gakkai Zasshi. 1996 Jun;34(6):716-20. Japanese translated to English. PMID: 8741541.
7. Jackson A, Loh CL. Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology. 1980 Nov;4(6):607-11. doi: 10.1111/j.1365-2559.1980.tb02956.x. PMID: 7439889.
8. Pingel S, Passon SG, Pausewang KS, Blatzheim AK, Pizarro C, Tuleta I, Gliem M, Charbel Issa P, Schahab N, Nickenig G, Skowasch D, Schaefer CA. Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. PLoS One. 2016 Sep 13;11(9):e0162337. doi: 10.1371/journal.pone.0162337. PMID: 27622520; PMCID: PMC5021259.
9. Liaqat M, Heymann WR. Anticoagulation in Patients with Pseudoxanthoma Elasticum. Skinmed. 2017;15(4):319-320. Published 2017 Aug 1.