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PubMed · 3912225

[Hereditary elastolysis].

M Ledoux-Corbusier
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Abstract

Several inherited syndromes characterized by abnormal elastic fibers decreased in number and size could be collected under the heading of inherited elastolysis. This morphological concept does not prejudge the causal mechanisms of the elastolysis involving dermis and/or other organs. The elastic fibers anomalies result mainly from elastin crosslinking defects, developmental disturbances or excessive proteolysis.

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Ehlers-Danlos SyndromeElastinHomocystinuriaHumansMarfan SyndromeMenkes Kinky Hair SyndromeSkinSkin Diseasesalpha 1-Antitrypsin DeficiencyEnglish AbstractJournal ArticleReview

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BibTeXRIS

M Ledoux-Corbusier. 1985. [Hereditary elastolysis].. https://pubmed.ncbi.nlm.nih.gov/3912225/

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Initial observations of human dermatosparaxis: Ehlers-Danlos syndrome type VIIC.

We describe initial observations of an infant with dermatosparaxis (another form of Ehlers-Danlos syndrome, designated as type VIIC), an autosomal recessive disorder characterized by skin fragility and described in several species of domesticated animals. Electron microscopic examination of the skin shows collagen sheets rather than fibrils, and characteristic distortions resembling hieroglyphs. In addition to skin fragility, the disorder is characterized by redundant skin folds and edema, healing with minimal scar formation, large fontanels and wide sagittal and metopic sutures, blue sclerae, micrognathia, and umbilical hernia; after the neonatal period there are joint laxity, growth failure, short limbs, and normal mineralization of the skeleton except for the cranial vault. This disorder may also be a cause of premature rupture of placental membranes and myopia.

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