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Clinical applications of magnesium in cutaneous medicine
Published in Kupetsky A. Erine, Magnesium, 2019
Laura Marie Jordan, Sunny K. Chun
Asymptomatic cutaneous changes are usually the first manifestation of PXE. The primary cutaneous lesions are small, yellowish papules 1–5 mm in diameter at flexural areas, such as the neck, axillae, antecubital fossae, popliteal spaces, inguinal, and periumbilical areas. As the disease progresses, the affected skin may become soft and wrinkled, hanging in redundant folds. In the retina, angioid streaks can be seen due to breaks in Bruch’s membrane, the elastic-rich layer of the retina, and may be the only sign of the disease for years. Ultimately, vision impairment and, rarely, blindness may result due to consequential neovascularization, hemorrhage, and scarring. Gastrointestinal and cardiovascular complications may occur due to the calcification of the elastic media and intima of arteries. Weakened elastin in the vessel walls can cause small intestinal vessels to become fragile and bleed.16
Connective tissue
Published in Brian J Pollard, Gareth Kitchen, Handbook of Clinical Anaesthesia, 2017
PXE produces well-recognised ocular manifestations in the form of retinal streaks extending radially from the optic disc over the fundus. The ‘angioid streaks’ are the result of reduced elasticity of Bruch’s membrane, and may lead to scarring and retinal or vitreous haemorrhage. Visual impairment usually presents in the second decade of life with characteristic preservation of peripheral vision.
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
appearance) found in flexural areas and neck which thicken with age; other areas periumbilical, antecubital fossae, wrists, popliteal fossae Small (1–3 mm) yellowish papules in a linear or reticular pattern, may be in confluent plaques (Figure 20.19)Perforating lesions with hyperkeratosis (e.g. elastosis perforans serpiginosa)Abnormal elastic tissue in arteriesHyperextensible skin and jointsMarfanoid featuresHypertensionCerebrovascular accidentsGastrointestinal hemorrhages caused by cracking of calcified vesselsCardiovascular diseaseArteriosclerosisMyocardial infarction (can be seen in teenagers)Ocular abnormalities: 1. Angioid streaks in retina (breaks in Bruch
Quantitative autofluorescence: Review of Current Technical Aspects and Applications in Chorioretinal Disease
Published in Seminars in Ophthalmology, 2021
Iris Deitch, Kevin Ferenchak, John B. Miller
PXE is a multisystem disorder characterized by ectopic mineralization and fragmentation of elastic fibers in the skin, the elastic lamina of blood vessels and Bruch membrane in the eye. It is inherited in an autosomal recessive pattern due to biallelic mutations in ABCC6 gene. The ocular findings in PXE retinopathy include angioid streaks, which are breaks in Bruch membrane and are associated with an increased risk for choroidal neovascular membranes. Other findings include peau d’orange pigment mottling and midperipheral subretinal white nodules in a comet shape.38 Associated changes in Bruch’s membrane and overlying RPE are associated with an increased resistance for vitamin A molecules to enter the visual cycle from the choroid and hindered visual cycle dynamics.39
Hickam’s Dictum: Pseudoxanthoma elasticum and Usher syndrome in a single patient
Published in Ophthalmic Genetics, 2020
Kevin Wang, Brittney Statler, Michael Ramos, Meghan J DeBenedictis, Amy Babiuch, Alex Yuan, Elias I. Traboulsi
Our patient’s characteristic pseudoxanthomatous skin changes along with the presence of angioid streaks were compatible with the previously diagnosed PXE, another rare, autosomal recessive multi-system disease characterized by calcification of elastic fibers due to pathogenic variants in the ABCC6 gene. There is involvement of dermatologic, ophthalmic, and vascular systems with more than 300 different loss of function variants in ABCC6 described. The true prevalence of PXE remains unknown, but estimates range from 1 in 100 000 to 1 in 25 000 (12). Calcium deposition in Bruch’s membrane causes thickening and breaks that appear as angioid streaks on fundus exam. While angioid streaks are highly suggestive of a systemic abnormality, they are not pathognomonic for PXE. Other ocular manifestations of PXE include optic nerve head drusen, peau d’orange retinal pattern and retinal pigment epithelium (RPE) atrophy (13). RPE atrophy was observed in our patient, with multi-lobular atrophic changes radiating from the optic nerve that progressed over time (Figure 1E-H). These atrophic changes are similar to the PXE-associated, multi-lobular atrophy initially described by Sawa et al. (13).
Ocular Manifestations of Sickle Cell Disease: Signs, Symptoms and Complications
Published in Ophthalmic Epidemiology, 2020
Saif Aldeen AlRyalat, Mohammed Nawaiseh, Barakat Aladwan, Allaa Roto, Zeyad Alessa, Akram Al-Omar
Regarding posterior segment manifestations associated with sickle cell disease, non-proliferative sickle cell retinopathy (NPSCR) was more common than the proliferative variant (PSCR). This is in concordance with another study done in Eastern India, which reported NPSCR prevalence rate of 30% (Samant, 2017). Sunburst sign, which is a sign of NPRSC, was the most common sign observed on fundus examination with 47.8% of patients having it. This is in concordance to a previous study that included 110 unselected sickle cell patients, in whom black sunburst was the most prevalent retinal abnormality.25 Moreover, previous studies also reported a high frequency of sunburst sign ranging from 25% to 63%.4,25 Regarding other signs of NPSCR, tortuosity of retinal blood vessels was found in about 37% of included patients, which is slightly higher than that reported by other studies.26 Angioid streaks are among the uncommon NPSCR manifestations27 frequently reported to occur in only 1–2% of sickle cell patients.16 We also found it in only around 3.2% of our sample. Furthermore, a recent study that included only patients with angioid streaks found that sickle cell was the underlying cause of only one patient from their 56 cases.28