Cutis Laxa

Overview :

Cutis laxa is extremely rare; less than a few hundred cases worldwide have been described.

The several forms of cutis laxa are divided into primary cutis laxa, which is present from birth and is hereditary, secondary cutis laxa, which arises later in life and may be hereditary, and acquired cutis laxa, which arises later in life and is not hereditary. Loose skin, the primary and most obvious symptom of these diseases, is caused by underlying defects in connective tissue structure, which also cause more serious internal problems in vocal cords, bones, cartilage, blood vessels, bladder, kidney, digestive system, and lungs. The loose skin is particularly obvious on the face, and children with the disorder look sad or mournful.

There are four genetic forms of the disease: sex-linked, autosomal dominant, and two types of autosomal recessive inheritance. The recessive forms are the most common and are usually more severe than the other forms.