Abstract
There has been progress made in the understanding of 3 Mendelian disorders: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis cutis and mucosae. While they are primary connective tissue diseases, their names imply a connection to the skin, and in fact, it is often the dermatologist who makes the diagnosis. It seems rational that defects in various extracellular matrix proteins cause lipoid proteinosis or subtypes of cutis laxa, yet the discovery of a liver- and kidney-based transmembrane transporter as the culprit of pseudoxanthoma elasticum was rather surprising and may shed new light on elastic tissue homeostasis.
MeSH terms
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Adolescent
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Adult
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Age Distribution
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Child
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Child, Preschool
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Cutis Laxa / epidemiology
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Cutis Laxa / genetics*
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Cutis Laxa / therapy
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Female
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Gene Expression Regulation, Developmental
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Genetic Predisposition to Disease / epidemiology*
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Humans
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Incidence
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Infant
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Infant, Newborn
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Lipoid Proteinosis of Urbach and Wiethe / epidemiology
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Lipoid Proteinosis of Urbach and Wiethe / genetics*
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Lipoid Proteinosis of Urbach and Wiethe / therapy
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Male
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Prognosis
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Pseudoxanthoma Elasticum / epidemiology
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Pseudoxanthoma Elasticum / genetics*
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Pseudoxanthoma Elasticum / therapy
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Risk Assessment
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Severity of Illness Index
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Sex Distribution
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Skin Diseases, Genetic / diagnosis
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Skin Diseases, Genetic / epidemiology
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Skin Diseases, Genetic / therapy