WHAT IS CUTIS LAXA ?
Cutis Laxa (CL) is a rare disorder of connective tissue that affects only about 400 families worldwide, or 1 in every 2,000,000 babies. Connective tissue, also referred to as the extracellular matrix, provides the structural framework for many parts of the body, including skin, muscles, joints, blood vessels, and even internal organs. The most obvious symptom of cutis laxa is loose wrinkled skin, especially around the face, trunk, arms, and legs, which hangs in folds and causes an aged appearance. There are many different types of cutis laxa, including an acquired form as well as several different inherited forms. Since cutis laxa is caused by a defect or deficiency of the connective tissue, the skin symptoms are often also observed in conjunction with problems involving the respiratory, skeletal, intestinal, and cardiovascular systems. The involvement of which, if any, additional body systems depends on the type of CL and/or the genetic cause.
HOW IS CUTIS LAXA INHERITED ?
Cutis laxa (CL) is inherited in many different ways, depending on the type of cutis laxa. There are autosomal dominant (AD), autosomal recessive (AR), and X-linked recessive (XLR) forms of inherited cutis laxa. Cutis laxa can also be acquired by an individual who does not have one of the inherited forms of CL. The cause of the acquired form of CL is unknown, but it typically affects older adults following a severe illness with fever and rash. These individuals may have incurred damage to their connective tissue from some environmental cause such as exposure to certain medications, infections, cancer treatments, or secondary to an autoimmune disease such as Lupus or Rheumatoid Arthritis. For more information see how Cutis Laxa is inherited on Pittsburgh Inheritance of Cutis Laxa page or on our lay language page Genetic Transmission
NEW MUTATIONS
/in News, Research - Medicine - Genetics, Research, Mutations /by Marie-Claude4 new genetic mutations were recently found: LOX : This gene of the 5-Lysyl oxidase family is involved in initiating of cross-linking of Elastin and Collagen. The mutation leads to cardiovascular, respiratory and bone symptoms, especially fractures. This is why it was initially considered to be a new type of osteogenesis imperfecta (glass bones disorder). […]
NEW MUTATIONS
/in News, Research - Medicine - Genetics, Research, Mutations /by Marie-ClaudeEven if I cannot tell you more since publications have not yet taken place, I am very happy and proud of our researchers who work on Cutis Laxa : 5 NEW MUTATIONS have just been discovered. For all patients whose precise type has not yet been identified, this is an extraordinary chance. You can be tested […]
Living with …. Cutis Laxa
/in News, Research - Medicine - Genetics, In the media, Mutations /by Marie-ClaudeThe French monthly magazine “La Revue du Praticien” (The Medical Practitioner’s Journal) published an article on Cutis Laxa in its November issue. Read the article here (in French)