Cutis laxa (generalised elastolysis)

Definition

Cutis laxa is a rare disorder of elastic tissue with loose, redundant, poorly elastic skin that hangs in folds. There are inherited and acquired forms; some involve major internal organ involvement.

Classification

• Inherited: autosomal dominant, autosomal recessive and X-linked recessive inheritance; genetically heterogeneous (including mutations in elastin and fibulin genes and in ATP6V0A2, which disturbs protein glycosylation). Most inherited forms affect several organ systems.
• Acquired: not inherited, onset at any age (mean age 36.4 years in a literature review of 110 cases). Most often associated with inflammatory (43%) and neoplastic disorders (27%), and in 10% with a particular drug.

Clinical features

• Loose, inelastic, hanging skin folds with reduced recoil after stretching; the face looks prematurely aged.
• Inherited forms: most prominent around the eyes, face, neck, shoulders and thighs. Autosomal recessive forms usually start in infancy, with features such as emphysema, hernias, diverticula (oesophagus, duodenum, bladder), aortic aneurysm and skeletal abnormalities. In the autosomal dominant form the skin is often the only organ affected.
• Acquired forms: mainly in previously inflamed areas, e.g. after urticaria, angioedema or extensive inflammatory skin disease; reported associations include complement deficiency, lupus erythematosus, sarcoidosis, multiple myeloma and amyloidosis.

Histology

Dermal elastic fibres are reduced, fragmented and shortened; often hard to see on haematoxylin and eosin, but clear with an elastic stain (orcein). Giant cells engulfing elastic fibre fragments and a mild perivascular lymphocytic infiltrate may be present.

Diagnosis

• Usually a clinical diagnosis; skin biopsy with an elastic stain supports it, and electron microscopy shows fragmentation of the elastic fibres.
• If an inherited form is suspected, genetic and, where appropriate, biochemical work-up.
• In the acquired form, a targeted search for associated inflammatory and neoplastic disease.

Differential diagnoses

• Werner syndrome (adult progeria)
• Marfan Syndrome
• Steroid-induced skin atrophy
• Pseudoxanthoma elasticum (PXE, Grönblad-Strandberg)
• Ehlers-Danlos syndrome

Keep learning in the app

References (selection)

1. DermNet: Cutis laxa
2. DermNet: Cutis laxa pathology
3. PubMed: Cutis laxa: a review (PMID 22387031)
4. PubMed: Cutis Laxa (PMID 24443027)
5. PubMed: Acquired cutis laxa: a clinical review (PMID 38924070)
6. PubMed: Autosomal recessive cutis laxa syndrome revisited (PMID 19401719)

Cross-references