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NORD is very grateful to Zsolt Urban, PhD, Associate Professor of Human Genetics, Graduate School of Public Health, University of Pittsburgh, for assistance in the preparation of this report.
Synonyms of Cutis Laxa
- Acquired cutis laxa
- ALDH18A1-related cutis laxa
- ATP6V0A2-related cutis laxa
- Autosomal dominant cutis laxa (ADCL)
- Autosomal recessive cutis laxa type 1A (ARCL1A)
- Autosomal recessive cutis laxa type 1B (ARCL1B)
- Autosomal recessive cutis laxa type 1C (ARCL1C)
- Autosomal recessive cutis laxa type 2A (ARCL2A
- Autosomal recessive cutis laxa type 2B (ARCL2B)
- Autosomal recessive cutis laxa type 3
- Debre-type cutis laxa
- EFEMP2-related cutis laxa
- ELN-related cutis laxa
- Geroderma Osteodyplasticum
- LTBP4-related cutis laxa
- MACS syndrome
- PYCR1-related cutis laxa
- RIN2-related cutis laxa
- Urban-Rifkin-Davis syndrome
- Wrinkly skin syndrome
Cutis laxa is a general term for a group of rare disorders that may occur in several inherited (congenital) forms or acquired at some point during life (acquired cutis laxa). This group of disorders involves a wide spectrum of symptoms and signs that result from defects in connective tissue, the material between cells of the body that gives the tissue form and strength. Connective tissue is found throughout the body in muscles, joints, skin and other organs. Cutis laxa is characterized by skin that is loose (lax), wrinkled, sagging, redundant, and lacking elasticity (inelastic). When stretched, inelastic skin returns to place abnormally slowly. The skin around the face, arms, legs and trunk is most commonly affected. Abnormal skin may give affected individuals and children a prematurely-aged appearance and they can look much older than their true age. Unlike similar skin disorders, easy bruising and scarring are generally not associated with cutis laxa. The joints are often abnormally loose (hypermobility) because of lax ligaments and tendons. Several inherited forms of the disorder have been identified. Most cases are inherited as either an autosomal dominant or recessive disorder. An X-linked form of cutis laxa, known as occipital horn syndrome, is now considered a mild form of disorders of copper metabolism caused by a mutation in the ATP7A gene and is not discussed in this report.
Cutis Laxa Resources
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