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At a glance

Cutis laxa is an acquired or inherited skin disorder characterized by wrinkled, inelastic skin. It is a very rare syndrome that is characterized by hemolytic anemia with early-onset emphysema and cutis laxa. The presence of excessive skinfolds and loose, redundant skin leads to early diagnosis. Associated features include cardiac valve anomalies and hernias. Aortic root dilatation might result in life-threatening aortic dissection. Poor prognosis.

Synonym

Cutis Laxa, Emphysema, and Hemolytic Anemia Syndrome; Emphysema Hemolytic Anemia Syndrome.

Incidence

Extremely rare. Some 200 families have been reported in literature until now.

Genetic Inheritance

The inherited form of cutis laxa is rather uncommon. Three types of Cutis Laxa Syndrome have been described on the basis of the inheritance pattern. Type I is inherited as an autosomal dominant, Type II as an autosomal recessive (most severe form), and Type III as an X-linked recessive trait.

Clinical aspects

Features include severe congenital hemolytic anemia, early-onset pulmonary emphysema, diffuse pulmonary giant cell infiltration, hemorrhagic adrenal necrosis, cutis laxa. The presence of excessive skinfolds and loose, redundant skin leads to early diagnosis. Associated features include cardiac valve anomalies and hernias. Aortic root dilatation might result in life-threatening aortic dissection.

Anesthetic considerations

Evaluate severity of anemia (clinical, full blood count), and respiratory function (clinical, chest radiographs, CT, pulmonary function test, arterial blood gas analysis). Patients with cutis laxa, especially Type II, present facial features that must be considered in the planning of airway management, pulmonary emphysema, cor pulmonale, and right-sided heart failure. Sudden death from acute dissection of the aortic root represents a major consideration in the conduct of anesthesia. Cardiovascular stability must be maintained at all times.

Other conditions to be considered

  • Ehlers-Danlos Syndrome: Frequently considered in the differential diagnosis of the autosomal recessive Cutis Laxa Syndrome Type II due to the presence of excessive wrinkled skin and increased joint laxity. The major clinical difference however is a decrease in elasticity in the Cutis Laxa Syndrome, and hyperelasticity in the latter diagnostic group.

  • De Barsy Syndrome: One of the most intriguing forms of ARCL presents with several features overlapping the ARCL II. The clinical features include cutis laxa, facial features, cranial abnormalities, and growth delay. The disorder is frequently progressive, associated with dystonia, eye anomalies (cataract and corneal abnormalities), and progeroid features.

  • Gerodermia Osteodysplastica: Autosomal recessive previously considered an allelic variant of ARCL Type II. The clinical characteristics in gerodermia osteodysplastica include cutis laxa, spontaneous fractures, severe osteoporosis, dwarfism, open fontanels, and progeroid features.

References

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Anahid Maleki  A, Soltani  AE, Goudarzi  M, Yaghooti  AA, Alipour  AO, Espahbodi  E: Anesthesia management in rare case: Cutis Laxa syndrome. Archives of Anesthesiology and Critical Care 1(4):139–140, 2015.

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