Pseudoxanthoma elasticum - also a microvascular disease.
Pseudoxanthoma elasticum - also a microvascular disease. Vasa. 2019 Jul 31;:1-6 Authors: Stumpf MJ, Mahn T, Steinmetz M, Fimmers R, Pizarro C, Nickenig G, Skowasch D, Schahab N, Schaefer CA Abstract Background: Pseudoxanthoma elasticum (PXE) is a heritable recessive disease characterized by calcification and fragmentation of soft connective tissue. Besides progressive loss of vision, alternations of the skin, and early-onset atherosclerosis different reports have suggested a microvascular manifestation of PXE and restrictive lung disease. Aim of this study was to elaborate a specific pattern of capillary alterations in PXE as well as to contemplate a possible connection to restrictive lung disease. Patients and methods: 53 consecutive patients with PXE and 26 controls were studied. All patients underwent nailfold capillaroscopy, body plethysmography, capillary blood gas analysis, and venous puncture to assess titer of autoantibodies. Results: PXE was associated with highly pathological alterations of capillaries compared to control. Atypical capillaries, such as ramifications and bushy forms, as well as dilatations varied at highest significance (p
PMID: 31956976 [PubMed - as supplied by publisher]
CONCLUSION: PXE-PDE is a rare condition, but it displays typical histological and clinical features. Knowledge of this entity avoids unnecessary explorations and enables rapid reassurance of patients. PMID: 31839274 [PubMed - as supplied by publisher]
We report the clinicopathological features of five cases and discuss the pathogenesis and differential diagnosis. Increased awareness of this newly described entity will broaden the differential diagnosis for dermatologists when encountering a similar case scenario.
Abstract Pseudoxanthoma Elasticum (PXE) is a rare disorder characterized by fragmentation and progressive calcification of elastic fibres in connective tissues. Overlap has been reported between the inherited PXE phenotype associated with ENPP1, ABCC6 or NT5E mutations and acquired PXE clinical manifestations associated with haemoglobinopathies induced by HBB mutations. No treatment is available for PXE to date. A young boy presented with severe early-onset systemic calcifications occurring in the skin as elastosis perforans serpiginosa (EPS) and in the arteries causing mesenteric and limb ischemia. Molecular and ...
In pseudoxanthoma elasticum (PXE), low levels of inorganic pyrophosphate result in extensive arterial calcification. Recently, the treatment of ectopic mineralization in the PXE (TEMP) trial showed that one year of treatment with etidronate halts progression of femoral artery calcification in PXE patients. The aim of this study was to test the efficacy of etidronate on calcification in different vascular beds.
This case report describes a peau d'orange pattern of diffuse mottling of the outer retina demonstrating dark spots on a normal-appearing fundus, angioid streaks, peripapillary comet lesions, and a peripheral comet rain in both eyes.
This article was corrected online.
This case series describes the characteristics of acute retinopathy and fundus changes among patients with pseudoxanthoma elasticum.
In this issue of JAMA Ophthalmology, Gliem et al present a case series describing a potentially novel presentation of acute retinopathy in 9 patients with pseudoxanthoma elasticum (PXE). Clinical findings in this disease shared many characteristics with multiple evanescent white dot syndrome (MEWDS): female predominance (8 of 9 patients), unilaterality (9 of 9 patients), blurry visual acuity and/or photopsia (variable symptoms among the cohort), mild vitreous cells (6 of 9 patients), and multiple small punctate outer retinal white lesions that tended to cluster in the posterior pole, particularly around the optic nerve and...
Conclusions: we reported the natural history of acquired vitelliform lesion in PXE-related retinopathy describing the Intraretinal hyperreflective foci migration. PMID: 31542970 [PubMed - as supplied by publisher]