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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.
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
Autosomal Dominant Cutis Laxa (ADCL)
Autosomal Dominant Cutis Laxa (ADCL)
ADCL symptoms begin anytime between birth and young adulthood. Symptoms include only cutis laxa in some of these patients. However, some families also exhibit specific facial features mainly involving the nose and ears, and cardiovascular and pulmonary problems such as aortic aneurysm and emphysema. Echocardiography and pulmonary function testing is recommended for these patients in order to identify heart and lung complications before they become life-threatening. Although most cases of ADCL result from mutations in the elastin (ELN) gene, at least one family with ADCL has been found to have a mutation in the Fibulin-5 (FBLN5) gene, which is the cause of autosomal recessive cutis laxa type 1B (ARCL1B).
Autosomal Recessive Cutis Laxa (ARCL)
Autosomal Recessive Cutis Laxa (ARCL)
ARCL is divided into several subtypes, based both on specific symptoms and the gene which causes the condition. ARCL is divided into ARCL1 (often associated with severe diseases of lung and blood vessels), ARCL2 (characterised by growth or developmental delay), and ARCL3, which are then further divided into additional subtypes.
Occipital Horn Syndrome (OHS)
OHS is rare, with fewer than 100 cases reported worldwide. Symptoms usually begin within the first decade of life, and include cutis laxa, skeletal problems (bony growths on the back of the skull, loose joints, and short stature), and pulmonary (lung), cardiovascular (heart), and gastrointestinal problems such as emphysema, aneurysms, and hernias. There can also be muscle weakness, and intelligence ranges from low normal to mild mental retardation. OHS is a disorder of copper metabolism caused by mutations (changes) in the ATP7A gene. Mutations in this gene prevent the body’s cells from obtaining enough copper, which is necessary for the proper function of enzymes within many cell types, including bone, skin, and hair, as well as cells that comprise blood vessels and the nervous system. OHS is considered a less severe form of Menkes Syndrome, which is also caused by mutations in the ATP7A gene. OHS has previously been referred to as Ehlers-Danlos Syndrome Type IX and X-linked Cutis Laxa. It has been called X-linked Cutis Laxa because the ATP7A gene is located on the X chromosome and inherited as an X-linked recessive (XLR) disease. For this reason, OHS typically affects only males.
Gerodermia Osteodysplastica (GO)
GO is a type of cutis laxa that occurs in babies or young children. These children have loose skin, mostly on the hands, feet, and stomach, as well as their face. Other features include a small jaw, hip dislocations, hernias, osteoporosis, fractures, and dwarfism. As with ARCL3, there are typically neither cardiovascular nor pulmonary symptoms. GO is also an autosomal recessive condition caused by mutations in the GORAB (SCYL1BP1) gene.
MACS Syndrome
MACS Syndrome is macrocephaly (large head), alopecia (sparse hair), cutis laxa, and scoliosis. Other features include puffy eyelids, flat feet, loose joints, and short stature. MACS is an autosomal recessive disorder caused by mutations in the RIN2 gene.
Acquired Cutis Laxa
Acquired cutis laxa typically occurs in older adults. Although its cause is unknown, it has been observed in some individuals after certain environmental exposures, such as some medications, infections, or autoimmune diseases. Acquired cutis laxa is not inherited. However, one aspect of Dr. Urban’s research is to determine whether some individuals may have a genetic susceptibility to developing cutis laxa after certain exposures.
Diagnosis of cutis laxa is typically made by physical examination of the skin by a physician such as a geneticist or dermatologist. The specific type of cutis laxa is determined by the associated features, family history information, and in some cases can be confirmed by genetic testing. However, some patients with or without a clinically identified cutis laxa gene mutation may choose to enroll in Dr. Urban’s cutis laxa research study at the University of Pittsburgh.
After initial diagnosis, patients with cutis laxa typically receive cardiovascular and pulmonary evaluations, such as echocardiograms and lung function testing. Management of individuals with cutis laxa includes treatment of symptoms, such as surgical repair of hernias, medications such as beta-blockers may be considered to prevent growth of aortic aneurysms, and pulmonary emphysema is treated symptomatically. Regular cardiovascular and pulmonary follow-up should begin at birth or immediately after diagnosis. Environmental triggers such as cigarette smoking, which can worsen emphysema, and sun bathing, which can damage the skin, should be avoided, especially by patients with cutis laxa. Some individuals with cutis laxa may choose to undergo plastic surgery. Although the results from plastic surgery are typically very good, they may not be permanent, as the loose skin may reoccur.
A NEW MUTATION : EMILIN1
/in Mutations, News, Research, Research - Medicine - Genetics /by Marie-ClaudeAdamo et al. describe a cutis laxa syndrome caused by bi-allelic loss of-function variants in EMILIN1 characterized by arterial tortuosity, aneurysm formation, and osteopenia. They provide a model in which EMILIN1 connects elastic fiber network with collagen fibril formation, relevant for both bone and vascular tissue homeostasis. Read the publication
Dr. Laura Muiño Mosquera, MD (Ghent, Belgium) : Cardiovascular Follow-up in CL
/in Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeCutis Laxa disorders usually present cardiovascular issues that need a specific follow up. Various devices can be used such as echocardiography, CT-Scan and MRI. Each one of those devices has its pros and cons and must be chosen according to what is examined.
Prof. Dr. Bert Callewaert (Ghent – Belgium) : CL Classification and Guidelines for Global Management
/in Mutations, News, Photos, Research, Research - Medicine - Genetics /by Marie-ClaudeThis new classification will simplify the diagnostic process and identify relevant Cutis Laxa subgroups with regard to management and clinical research. In addition, identification of the underlying genetic defect may end the diagnostic odyssey, further stratify management, and may provide (im)partial answers to future health issues. Furthermore, it provides answers to potential recurrence risks in […]