Cutis Laxa

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.

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Generalized Chalazodermia; Generalized Dermatochalasia; Generalized Elastorrhexis.

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. 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.

Proper preoperative evaluation of pulmonary and cardiovascular function is necessary. The presence of emphysema usually is an indicator of the severity of the disease. Cutis laxa patients can bruise easily because of vascular fragility, however, this does not suggest patients have coagulation problems or prolonged bleeding time. The presence of major vessel aneurysms should be evaluated, especially of the aorta. The patient may be receiving chronic steroid therapy, and supplementation may be required for the perioperative period.

The presence of abnormal skin may make vascular access difficult. The possibility of prolonged mechanical ventilation postoperatively must be kept in mind for patients with significant pulmonary manifestations. Cor pulmonale and pulmonary arterial hypertension have been reported in some of these patients. Avoid further increases in pulmonary artery pressures (avoid acidosis, hypercapnia and hypoxia) and maintain inotropy.

Avoid nitrous oxide in patients with severe emphysema and/or pulmonary arterial hypertension.

De Barsy Moens Diercks Syndrome is inherited as an autosomal recessive trait. It is characterized by degeneration of the elastic tissue in the skin (cutis laxa), athetosis, loss of muscle tone, unusual flexibility of the small joints, clouding of the corneas, large prominent ears, frontal bossing, and short stature. Other clinical features may include mental retardation, dislocated joints at birth, sparse hair, and thin lips.

Ehlers-Danlos Syndrome (EDS) is a group of inherited systemic connective tissue disorders characterized by a wide variety of joint and skin problems. Eleven types have been described. Clinically, this entity is characterized by fragile, soft, velvety, elastic skin and hyperextensibility of joints causing frequent dislocations. When the skin is pulled, it normally returns to its original position. Vascular fragility has been suggested because most patients bruise and bleed easily.