WebSummary. EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly … WebSymptoms include: Loose skin that hangs in folds, especially on the face, neck, and thighs. Skin that looks droopy or wrinkly. Looking older than your age. Loose joints, sometimes called double ...
Cutis laxa: MedlinePlus Genetics
Cutis laxa encompasses a wide variety of disorders. The specific symptoms present, severity and prognosis can vary greatly depending upon the specific type of cutis laxa and the presence and extent of associated symptoms. The specific symptoms and severity can vary even among individuals with the … See more This disorder is also known as FBLN4-related cutis laxa or autosomal recessive cutis laxa type 1B (ARCL1B). It is a highly variable disorder that range from severe, life-threatening … See more Some individuals with EFEMP2-related cutis laxa develop pulmonary emphysema, a chronic lung disease in which the tiny air sacs in the lungs (alveoli) are damaged or do not function properly, resulting in shortness of breath … See more Individuals with EFEMP2-related cutis laxa develop the skin symptoms of cutis laxa as well as systemic involvement, particularly the cardiovascular and skeletal systems. The skin symptoms may be mild. Affected infants may have … See more This disorder is also known as autosomal recessive cutis laxa type 1A (ARCL1A). The symptoms and age of onset are highly variable. Affected … See more WebEFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity leading to termination of pregnancy. Cardinal signs of this connective tissue disease were already seen during the … heater channel beetle 1977
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WebAug 28, 2015 · Background: Mutations in fibulin-4 cause autosomal recessive cutis laxa 1B, characterized by loose skin with vascular, lung, and skeletal abnormalities.Results: A mouse strain carrying a recurrent fibulin-4 missense mutation was generated and characterized.Conclusion: Mutant mice recapitulate the complete clinical features of the … WebSep 22, 2024 · ARCL1B (Cutis laxa, autosomal recessive,type 1B; mutation at EFEMP2 gene (EGF-containing fibulin-like extracellular matrix protein 2), gene location 11q13.1, fibulin 4) severe form with life-threatening complications such as emphysema, pulmonary artery stenosis. Fibulin 4 has been shown to be essential for the integrity of the wall … WebApr 26, 2013 · 614437 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B Ades et al. (1996) reported 4 unrelated children, 3 boys and 1 girl, with congenital … heater channel beetle partstrain