IllnessPseudoxanthoma elasticum, differential diagnosis

NGS +

Pseudoxanthoma elasticum is a rare, metabolic systemic disease with mineralization disorder of the elastic connective tissue, manifesting mainly in the skin (scar-like skin relief on neck and in joint flexures), eyes (retinal comets and/or "wing signs") and in the cardiovascular system (hypertension, arteriosclerotic changes) usually before the age of 30 years. Inheritance is usually autosomal recessive, the forme fruste is inherited in an autosomal dominant manner; isolated cases of spontaneous or acquired pseudoxanthoma elasticum have been reported. Inherited forms of cutis laxa, of generalized arterial calcification of childhood, hyperphosphatemic familial tumorous calcinosis, beta-hemoglobinipathies and other very rare diseases may have to be included in the differential diagnosis. The diagnostic yield is currently unknown.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1113/

• Alias: Angioid streaks; [Darier-]Groenblad-Strandberg syndrome; Elastorrhexis systematisata
• Alias: Darier-Groenblad-Strandberg-Syndrom; Grönblad-Strandberg-Syndrom; Elastorrhexis systematische
• Allelic: Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Allelic: Desbuquois dysplasia 2 (XYLT1)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
• Allelic: MIRAGE s.: Myelodys., Infect, growth Restr., Adrenal hypopl., Genital, Enterop. (SAMD9)
• Allelic: Macular degeneration, age-related, 3 (FBLN5)
• Allelic: Monosomy 7 myelodysplasia leukemia syndrome 2 (SAMD9)
• Allelic: Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
• Allelic: Neuropathy, hereditary, with/-out age-related macular degeneration (FBLN5)
• Allelic: Spondyloocular syndrome (XYLT2)
• Allelic: Vitamin K-dependent clotting factors, combined deficiency of, 1 (GALNT3)
• Allelic: Vitamin K-dependent clotting factors, combined deficiency of, 1 (GGCX)
• Buschke-Ollendorff syndrome (LEMD3)
• Calcification of joints + arteries (NT5E)
• Cutis laxa, AD 2 (FBLN5)
• Cutis laxa, AR, type IA (FBLN5)
• Cutis laxa, AR, type IB (EFEMP2)
• Cutis laxa, AR, type IC (LTBP4)
• Cutis laxa, AR, type IIA (ATP6V0A2)
• Hypophosphatemic rickets, AD (FGF23)
• Osteolysis, familial expansile (TNFRSF11A)
• Osteopetrosis, AR 7 (TNFRSF11A)
• Osteopoikilosis with/-out melorheostosis (LEMD3)
• Paget disease of bone 2, early-onset (TNFRSF11A)
• Paget disease of bone 3 (SQSTM1)
• Paget disease of bone 5, juvenile-onset (TNFRSF11B)
• Pseudoxanthoma elasticum (ABCC6)
• Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Pseudoxanthoma elasticum, modifier of severity of (XYLT1, XYLT2)
• Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GALNT3)
• Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (GGCX)
• Sickle cell anemia (HBB)
• Thalassemia, beta (HBB)
• Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
• Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
• Wrinkly skin syndrome (ATP6V0A2)