SCIENTIFIC BACKGROUND

ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1

Scientific Background

Cutis laxa is a rare, genetically heterogeneous, generalized disease of the connective tissue that ischaracterized by loose, wrinkled skin. In contrast to hyperelastic skin, there seems to be excess skin which is inelastic. In addition, skeletal and developmental anomalies and, in some cases, severe systemic involvement are described. There is a histopathological finding of diminished, fragmented elastic fibers. In the dominant forms, skin laxity manifests rather late. Mild visceral involvement may include emphysema, bronchiectasis, pulmonary stenosis and intestinal hernias. In the recessive forms, skin involvement manifests earlier. In some cases, intrauterine growth retardation noticeable. Facial abnormalities and chest and spinal deformities are common. Lung involvement with the early onset of emphysema and pneumothoraces, vascular involvement, as well as hernias and diverticula in the digestive and urogenital areas influence the severity.

 

Both the usually mild autosomal dominant, forms (ADCL1, ADCL2 and ADCL3) and the severe autosomal recessive forms (ARCL1A, ARCL1B, ARCL1C, ARCL2A, ARCL2B, ARCL2C, ARCL2D, ARCL3A and ARCL3B) are genetically heterogeneous and clinically difficult to differentiate.

 

References

Gara S, et al. In: StatPearls (Internet). Treasure Island (FL) (Updated 2019 Jun 6) / Callewaert et Urban In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® (2016 Feb 11) / Loeys et al. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® (Updated 2015 Jul 23) / Van Maldergem et al. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® (Updated 2018 Aug 16) / Van Maldergem et al. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® (Updated 2015 Feb 12) / Mohamed et al. 2014, Adv Exp Med Biol 802:161

GENES

ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
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