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Diagnosis of pseudoxanthoma elasticum in a patient with discrete skin lesions. 2023

Catalina Jahr, and Valentina Vera, and Roberto Bustos, and José Contreras
Department of Dermatology, Hospital Clínico de la Universidad de Chile, Santiago, Chile. Electronic address: catalina.jahr@gmail.com.

UI MeSH Term Description Entries
D011561 Pseudoxanthoma Elasticum An inherited disorder of connective tissue with extensive degeneration and calcification of ELASTIC TISSUE primarily in the skin, eye, and vasculature. At least two forms exist, autosomal recessive and autosomal dominant. This disorder is caused by mutations of one of the ATP-BINDING CASSETTE TRANSPORTERS. Patients are predisposed to MYOCARDIAL INFARCTION and GASTROINTESTINAL HEMORRHAGE. Gronblad-Strandberg Syndrome,Groenblad-Strandberg Syndrome,Pseudoxanthoma Elasticum, Autosomal Dominant,Pseudoxanthoma Elasticum, Forme Fruste,Pseudoxanthoma Elasticum, Incomplete,Elasticum, Incomplete Pseudoxanthoma,Elasticums, Incomplete Pseudoxanthoma,Gronblad Strandberg Syndrome,Incomplete Pseudoxanthoma Elasticum,Incomplete Pseudoxanthoma Elasticums,Pseudoxanthoma Elasticums, Incomplete,Syndrome, Gronblad-Strandberg
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012867 Skin The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
D012871 Skin Diseases Diseases involving the DERMIS or EPIDERMIS. Dermatoses,Skin and Subcutaneous Tissue Disorders,Dermatosis,Skin Disease

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