What are the main symptoms of cutis laxa?
The exact symptoms of cutis laxa differ based on the exact subtype. Generally, symptoms include loose redundant skin, distinctive facial features such as micrognathia (small jaw), beaked nose, and receding forehead. It can also include symptoms associated with the pulmonary system such as emphysema, symptoms associated with cardiac system such as a dilation of the aorta, and symptoms associated with the gastrointestinal system such as a hernia.
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Are there earlier onset or later onset of cutis laxa?
The exact age of onset can differ based on the subtype of cutis laxa. Acquired cutis laxa is usually seen in adults, whereas some of the autosomal recessive forms of cutis laxa are usually seen in children and infants.
Are there any other disease that can resemble or look like cutis laxa?
There are other genetic disorders that have overlapping symptoms and features with cutis laxa. Ehlers-Danlos syndrome is one of those disorders and is a part of a group of disorders affecting the connective tissue of the body, and can have symptoms affecting the skin, joints, and possibly other organs.
Pseudoxanthoma elasticum (PXE) is another disorder that also affects the connective tissues, and can affect the eyes, the cardiovascular system, and the gastrointestinal system. The skin of individuals with PXE is hyperelastic, and they can also have loose joints similar to some types of cutis laxa.
Additionally, arterial tortuosity syndrome, Cantu syndrome, SCARF syndrome, Lenz-Majewski hyperostotic dwarfism, Barber-Say syndrome, Hutchinson-Gilford progeria syndrome, Cockayne syndrome, Wiedemann-Rautenstrauch syndrome, kabuki syndrome, Williams syndrome, Patterson pseudoleprechaunism syndrome, costello syndrome, noonan syndrome, cardiofaciocutaneous syndrome, LEOPARD syndrome, and ablepharon-macrostomia syndrome are all genetic conditions where an individual would have similar skin findings that can mimic or resemble the same skin findings in individuals with cutis laxa.
Is there one or two characteristic “odd” or “unusual” symptoms or clinical features of cutis laxa?
Sometimes, specific types of cutis laxa will have very distinctive features. For example, occipital horn syndrome or X-Linked cutis laxa causes an individual to have boney growth on their occipital bone (a bone found in the front part of the skull or head) resembling small horns.
Is there variable expression in cutis laxa?
Cutis laxa shows variable expression. Many of the subtypes include involvement of different systems such as the cardiac system, the gastrointestinal system, and the pulmonary system. However, not all affected individuals are going to show all related symptoms to the type of cutis laxa they may have. Additionally, there is intrafamilial variability in which family members within the same family and that have the same disease-causing genetic change may not have the exact same features or symptoms or may present at different ages from one another.
Is pulmonary artery stenosis part of cutis laxa?
People living with cutis laxa can have pulmonary stenosis as one of their health problems. Pulmonary stenosis is the medical term for narrowed or partially blocked blood vessels (pulmonary arteries) leading from the heart to the lungs. Blood needs to travel to the lungs and back to the heart so that oxygen in the blood can be delivered to the whole body. Pulmonary stenosis makes the heart work harder to get blood to the lungs. Most people with mild pulmonary stenosis don't have problems you can see, but people with more severe pulmonary stenosis can have problems breathing, an extra big heart, and be very tired. A heart doctor (cardiologist) can talk to people with pulmonary stenosis about any activities to avoid or lifestyle changes. If pulmonary stenosis become severe and is causing the heart to work too hard, surgery may be in order.
To learn more about pulmonary stenosis visit the [link url-"http://www.childrenshospital.org/conditions-and-treatments/conditions/peripheral-pulmonary-stenosis/symptoms-and-causes"]Boston Children's Hospital "Peripheral Pulmonary Stenosis" page[\link]
- [link url-"http://www.childrenshospital.org/conditions-and-treatments/conditions/peripheral-pulmonary-stenosis/symptoms-and-causes"]Boston Children's Hospital "Peripheral Pulmonary Stenosis" page[\link]