Question: What are the symptoms of Pseudoxanthoma elasticum ?
Answer: What are the signs and symptoms of Pseudoxanthoma elasticum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoxanthoma elasticum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of coagulation 90% Chorioretinal abnormality 90% Retinopathy 90% Skin rash 90% Thickened nuchal skin fold 90% Visual impairment 90% Bruising susceptibility 50% Myopia 50% Striae distensae 50% Abnormality of the endocardium 7.5% Abnormality of the mitral valve 7.5% Abnormality of the palate 7.5% Abnormality of the thorax 7.5% Abnormality of thrombocytes 7.5% Acne 7.5% Aneurysm 7.5% Blue sclerae 7.5% Cerebral calcification 7.5% Chondrocalcinosis 7.5% Coronary artery disease 7.5% Gastrointestinal hemorrhage 7.5% Hemiplegia/hemiparesis 7.5% Hyperextensible skin 7.5% Hypertension 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Intracranial hemorrhage 7.5% Joint hypermobility 7.5% Multiple lipomas 7.5% Nephrocalcinosis 7.5% Pruritus 7.5% Scoliosis 7.5% Sudden cardiac death 7.5% Telangiectasia of the skin 7.5% Renovascular hypertension 5% Abnormality of the mouth - Accelerated atherosclerosis - Angina pectoris - Angioid streaks of the retina - Autosomal recessive inheritance - Congestive heart failure - Hypermelanotic macule - Intermittent claudication - Macular degeneration - Mitral stenosis - Mitral valve prolapse - Reduced visual acuity - Renal insufficiency - Restrictive cardiomyopathy - Retinal hemorrhage - Stroke - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: How to diagnose Pseudoxanthoma elasticum ?
Answer: What testing is available to identify unaffected carriers of pseudoxanthoma elasticum? When considering carrier testing for unaffected relatives of individuals with pseudoxanthoma elasticum (PXE), it is most useful to begin by testing an affected family member for mutations in the ABCC6 gene. Eighty percent of individuals affected with PXE are found to have mutations in the ABCC6 gene by the genetic testing currently available. Once the ABCC6 mutations that cause PXE in a family are identified, unaffected relatives may be tested for the familial mutations to determine whether or not they are carriers.
Source: GARD

Question: What are the treatments for Pseudoxanthoma elasticum ?
Answer: What treatment might be available for pseudoxanthoma elasticum? Unfortunately, there is no cure for pseudoxanthoma elasticum. Affected individuals are recommended to have regular physical examinations with their primary care physician and routine eye examinations with an eye doctor (ophthalmologist) who is familiar with retinal disorders. A team of doctors in other specialties - including dermatology, cardiology, plastic surgery, vascular surgery, genetics, and nutrition - may also help with the management this condition. Individuals should be alert to changes in their vision and should inform their eye doctor of any such changes. Several therapies may be effective for slowing the reduction in vision in PXE. Surgery may help to reduce skin symptoms, gastrointestinal symptoms, or severe vascular symptoms in the legs.
Source: GARD