pseudoxanthoma

pseudoxanthoma

(soo″dō-zăn-thō′mă) [″ + xanthos, yellow, + oma, tumor]
A condition resembling xanthoma.

pseudoxanthoma elasticum

An autosomal recessive disease that affects elastic tissues in cardiovascular tissues and skin. Abnormalities in the retina may result in the finding of angioid streaks on physical examination, and blindness. Arterial damage in other organs can result in ischemia. Skin lesions include yellow xanthomatoid patches and excess skin laxity.
References in periodicals archive ?
Inozyme is developing INZ-701 for certain rare, life-threatening and devastating genetic disorders such as ENPP1 Deficiency (GACI and ARHR2) and pseudoxanthoma elasticum in which PPi levels are below the normal physiological levels.
Thalassemic syndromes Heterozygous beta thalassemia Other hemoglobinopathies Artifact in the presence of Hb S Some Hb variants with thalassemic phenotype Acquired conditions Megaloblastic anemia Hyperthyroidism Pseudoxanthoma elasticum Hypertrophic osteoarthropathy Treatment-related conditions Antiretroviral therapy in patients with HIV
Abel, "Perforating pseudoxanthoma elasticum associated with chronic renal failure and hemodialysis," JAMA Dermatology, vol.
Falcao-Reis, "Acute transient myopia with shallowing of the anterior chamber induced by sulfamethoxazole in a patient with pseudoxanthoma elasticum," Journal of Glaucoma, vol.
--inherited constitutional vascular wall changes, in connective tissue disorders, such as type 2 Ehlers-Danlos syndrome, Marfan syndrome, pseudoxanthoma elasticum.
Therefore, ABCC6 gene is considered responsible for elastic pseudoxanthoma,[sup][59] a disease with the aforementioned characteristics, in addition to dystrophic calcinosis, which refers to calcium deposits in necrotic and inflamed spots.[sup][60] A molecular link between elastic pseudoxanthoma and vascular calcification is established on the clinical and histological similarities between the two, suggesting that they both arise through mutations in ABCC6 , which affect the pyrophosphate pathway [sup][61] and reduce MGP gamma-carboxylation.[sup][62]
Scheffer et al., "Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum," Human Molecular Genetics, vol.
Uitto, "Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter," Proceedings of the National Academy of Sciences of the United States of America, vol.
There are numerous systemic associations with AS, including pseudoxanthoma elasticum (PXE; OMIM #264800), Paget's disease of bone, sickle cell anemia, and Ehlers-Danlos syndrome [1].
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.
10-20% of direct fistula may be spontaneous due to rupture of aneurysm of cavernous part of ICA or weakening of the vessel wall as in Ehlers-Danlos syndrome or pseudoxanthoma elasticum.
Some of the associated conditions can be remembered with the mnemonic MADPPORES: Marfan syndrome, Acrogeria, Down syndrome, Penicillamine, Pseudoxanthoma elasticum, Osteogenesis imperfecta, Rothmund-Thomson syndrome, Ehlers-Danlos (some forms), and Scleroderma.