Cutis laxa
Other names	Chalazoderma,Dermatochalasia,Dermatolysis,Dermatomegaly,Generalized elastolysis,Generalized elastorrhexis
Cutis laxa in a neonate
Specialty	Medical genetics

Cutis laxa^[1] orpachydermatocele^[2] is a group of rareconnective tissue disorders in which theskin becomes inelastic and hangs loosely in folds.^[3]

It is characterised by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin can be either generalised or localised.^[4] Biopsies have shown reduction and degeneration of dermal elastic fibres in the affected areas of skin.^[5] The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints may be loose (hypermobile) because of laxligaments andtendons. When cutis laxa is severe, it can also affect the internal organs. Thelungs,heart (supravalvular pulmonary stenosis),intestines, orarteries may be affected with a variety of severe impairments. In some cases,hernias and outpouching of the bladder can be observed. Patients can also present withwhites of the eyes that are blue.^{[citation needed]}

In many cases, cutis laxa is inherited.Autosomal dominant,autosomal recessive, andX-linked recessive forms have been described, but acquired forms also occur.^{[citation needed]}

Cutis laxa is associated with deficient or absentelastin fibers in theextracellular matrix.^[6] This can be related to decreasedelastin synthesis or structural defects in theextracellular matrix.^[7]

Cutis laxa may be caused by mutations in the genes:ELN,^[8]ATP6V0A2,^[9]ATP7A,^[10]FBLN4,^[11]FBLN5,^[12] andPYCR1.^[13] A related neurocutaneous syndrome may be caused by mutations in the geneALDH18A1 (P5CS).^[14] Cutis laxa may also be seen in association with inherited connective tissue disorders such asEhlers–Danlos syndromes. Another syndrome associated with cutis laxa isLenz-Majewski syndrome which is due to a mutation in the phosphatidylserine synthase 1 (PTDSS1) gene.^{[citation needed]}

In contrast, acquired cutis laxa often has a triggering event such asurticaria, drugs (such aspenicillin) orneoplasms.^[15] Acquired cutis laxa may also be immunologically mediated, as it can involve dermal deposit ofimmunoglobulins and it can occur withautoimmune diseases.^[5] Acquired cutis laxa has been associated with granularimmunoglobulin A deposits as well as abundantneutrophils.^[5] One hypothesis for the cause is excessiveelastase release fromneutrophils andmacrophages.^[15] It has also been considered that mutations inelastin (ELN) andfibulin-5 (FBLN5) genes can increase susceptibility of elastic fibres to inflammatory degradation in acquired cutis laxa.^[15]

Acquired cutis laxa has also been seen in conjunction with a number of conditions including:rheumatoid arthritis,^[16]systemic lupus erythematosus,^[17]celiac disease,^[5] andmonoclonal gammopathies.^[18] It can also occur as a postinflammatory response afterurticaria.^[19]Urticarial skinfibroblasts have shown a 2- to 3- fold increase inelastase activity in a patient with acquired cutis laxa.^[20]

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As of 2024, there is no treatment for cutis laxa. Procedures aimed at mitigating symptoms and identifying subsequent conditions are often advised. No pharmacological agent has been able to stop the progression of the disease.^[15] However, cosmetic surgeries are potentially an option as cutis laxa does not generally involve vascular fragility.^[15]

• Occipital horn syndrome
• List of cutaneous conditions
• Lipodystrophy

• Medscape entry on Cutis Laxa

• Abnormalities of dermal fibrous and elastic tissue
• Rare diseases

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