Cutis laxa is a multisystemic disorder charactarized by lax skin and wrinkles of variable severity, abnormal growth, developmental delay, and associated skeletal abnormalities. Cardiovascular, pulmonary and central nervous systems are often involved. The dermatological condition is marked in the face, giving a prematurely aged appearance. Additional features of the condition include thickening and darkening of the affected areas of the skin, hypermobility of the joints, skeletal abnormalities (hip dislocation, spinal curvature, and others), emphysema, hernias, diverticula in the bladder and esophagus, and in severe cases, impairment of internal organs.
ARCL2 is inherited in an autosomal recessive manner. ACRL2B results from mutations in the PYCR1 gene, which codes for the enzyme pyrroline-5-carboxylate reductase. This enzyme catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline.