Cutis laxa is a rare autosomal recessive or sporadic
connective tissue disorder characterized by the lack of elasticity
manifesting mostly by hanging or wrinkled skin. Clinically, the affected
skin normally is thickened and dark.
This newborn child suffers from congenital cutis laxa characterized by a
lack of elasticity manifesting mainly by skin hanging and wrinkling on arms
and legs. The affected skin appears thickened and edematous.
Generalized Chalazodermia; Generalized Dermatochalasia;
Important Notice: Numerous medical conditions are associated with similar skin conditions as
observed in cutis laxa, but most of these disorders have specific findings,
such as characteristic facial features, joint hypermobility, and age of
onset, that are so distinctive that they should typically not be confused
with cutis laxa. These include Turner syndrome, neurofibromatosis, systemic
lupus erythematous, complement deficiencies, and pseudoxanthoma elasticum.
Cutis laxa is a rare skin disorder that affects
males and females in equal numbers. Approximately 50 cases have been
reported in the medical literature. Most cases of cutis laxa are
inherited as an autosomal recessive trait. It has
been suggested that cutis laxa in some cases is inherited as an
autosomal dominant transmission; in this situation, the skin manifestations can be
minimal but systemic effects (lungs) may still occur. An X-linked form of cutis laxa has been
classified as Ehlers-Danlos type IX. The acquired form of cutis laxa may
develop following a severe illness involving fever, polyserositis, or
erythema multiforme. It has been suggested that acquired cutis laxa results
from an autoimmune process.
Reduced levels of elastin mRNA and
elastic fibers throughout the dermis are associated with abnormal elastin
components noted by electron microscopy.
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. ...