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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.

Cutis Laxa

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; 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 ...

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