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
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)
CUTIS LAXA PATIENT JOURNEYS
/in News, Research - Medicine - Genetics, Research, Mutations /by Marie-ClaudeWe have developped 2 patient journeys based on testimonies from our members on what it is like to live with a Cutis Laxa. Those documents aim to be a tool for health care professionals and patients during a consultation to help them agree on the best possible care on a long term basis. They will […]
RARE SKIN DISORDERS AND COVID-19 : An observationnal study
/in News, Research - Medicine - Genetics, Research, Mutations /by Marie-ClaudeRARE SKIN DISORDERS AND COVID-19 An observational study was initiated by the European Reference Network ERN-Skin and the French Health Network for Rare Skin Disorders (FIMARAD) : « COVID-19 and rare skin diseases. European observational study (data research) during an epidemic”. It concerns paediatric and adult patients with rare skin diseases and suspected or confirmed […]