Cutis Laxa Report

Cutis Laxa is a rare inherited or acquired connective tissue disease. In the first case the symptoms arise from childhood, while in the second in the course of life. Connective tissue is ubiquitous in the body, as it performs numerous functions: structural and metabolic support to other tissues, transport of substances and fluids (blood), energy reserve and thermogenesis (adipose tissue), isolation and protection of organs.
The name of this condition derives from the typical conformation of the skin, which appears sagging and tending to form deep folds and wrinkles: it is therefore defined as "loose" and "inelastic".
Since connective tissue is not found only in the dermis, this condition also affects other parts of the body such as blood vessels and the heart, lungs and intestines.
Consequently, the possible systemic complications of Cutis Laxa are many and range from the appearance of diverticula (in the intestine and bladder) and umbilical and inguinal hernias, to pulmonary emphysema, up to aneurysms (due to the permanent dilation of the wall of a vessel blood).
The clinical picture appears highly variable and strictly dependent on the type of Cutis Laxa.
There are different forms of Cutis Laxa, depending on the mode of inheritance: autosomal dominant, autosomal recessive and X-linked. Those affected by the recessive form tend to develop other types of symptoms as well, in addition to those already mentioned. These include intellectual disabilities, seizures and motor difficulties. The form transmitted via the X chromosome is also called ""Occipital Horn Syndrome"" and is characterized by alterations in copper metabolism.
Other rare syndromes also fall within the macro-category of Cutis Laxa, sharing the same cutaneous characteristics: Arterial Tortuosity Syndrome and Geroderma Osteodysplastica are among these.
The genes responsible for this pathology code above all for the proteins that make up the elastic fibers of the connective tissue, whose loss of function will make the tissue itself inflexible and not very resistant.