Congenital cutis laxa typically is diagnosed at
birth or early infancy. Transient edema, especially of the arms and legs,
often is perceived as the first manifestation. During infancy, the skin
lacks elasticity that may be most apparent on the face. The symptoms of
cutis laxa progress during infancy, but usually become less noticeable after
puberty. Patients may present with emphysema and occasionally flaccid
trachea. Diverticula in the esophagus, duodenum and bladder are common findings. Cardiovascular
anomalies may include cor pulmonale, supravalvular aortic stenosis, arterial aneurysms, arterial tortuosity, multiple
pulmonary artery stenoses, and fibromuscular renal artery dysplasia. Joint
laxity and potential hip dislocation are characteristic. The association of
cutis laxa and diaphragmatic hernia has been suggested. The presence of a
large fontanelle with delayed closure has been reported. The symptoms of the
acquired form of cutis laxa develop slowly and may not appear until puberty or later during early
adulthood. Episodes of transient angioedema, especially in the face and
neck, and inflammation are frequently the first signs of the acquired form
of the disease. Skin changes develop slowly and may be widespread or
limited to the face, trunk, and/or neck. Small blood vessels under the
skin in the affected area may rupture easily and result in purpura-like spots on
the skin. It is important to notice that life-threatening complications have
been reported in congenital and acquired cutis laxa, including rupture of the aorta and
severe emphysema.