Cutis laxa

Cutis laxa [1] or pachydermatocele[2] is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.[3]

"Dermatochalasia" redirects here. For the medical condition affecting eyelids, see Dermatochalasis.
Cutis laxa
Other namesChalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis
Cutis laxa in a neonate
SpecialtyMedical genetics 

Signs and symptoms
Peter Spanner, 1891

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 lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart (supravalvular pulmonary stenosis), intestines, or arteries 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 with whites of the eyes that are blue.

Causes

In many cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive, and X-linked recessive forms have been described, but acquired forms also occur.

Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix.[6] This can be related to decreased elastin synthesis or structural defects in the extracellular matrix.[7]

Cutis laxa may be caused by mutations in the genes: ELN,[8] ATP6V0A2,[9] ATP7A,[10] FBLN4,[11] FBLN5,[12] and PYCR1.[13] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 (P5CS).[14] Cutis laxa may also be seen in association with inherited connective tissue disorders such as Ehlers–Danlos syndromes. Another syndrome associated with cutis laxa is Lenz-Majewski syndrome which is due to a mutation in the phosphatidylserine synthase 1 (PTDSS1) gene.

In contrast, acquired cutis laxa often has a triggering event such as urticaria, drugs (such as penicillin) or neoplasms.[15] Acquired cutis laxa may also be immunologically mediated, as it can involve dermal deposit of immunoglobulins and it can occur with autoimmune diseases.[5] Acquired cutis laxa has been associated with granular immunoglobulin A deposits as well as abundant neutrophils.[5] One hypothesis for the cause is excessive elastase release from neutrophils and macrophages.[15] It has also been considered that mutations in elastin (ELN) and fibulin-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] and monoclonal gammopathies.[18] It can also occur as a postinflammatory response after urticaria.[19] Urticarial skin fibroblasts have shown a 2- to 3- fold increase in elastase activity in a patient with acquired cutis laxa.[20]

Diagnosis

Treatment

As of 2019, 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]

See also

References
  1. Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  2. James WD, Elston DM, Berger TG, Andrews GC (1969). 'Andrews' Diseases of the Skin: Clinical Dermatology' (10th ed.). Saunders. p. 515. ISBN 0-7216-2921-0.
  3. Millington P (2009). Skin. Cambridge University Press. p. 100. ISBN 978-0-521-10681-8.
  4. Nygaard RH, Maynard S, Schjerling P, Kjaer M, Qvortrup K, Bohr VA, et al. (2016-02-13). "Acquired Localized Cutis Laxa due to Increased Elastin Turnover". Case Reports in Dermatology. 8 (1): 42–51. doi:10.1159/000443696. PMC 4899661. PMID 27293393.
  5. García-Patos V, Pujol RM, Barnadas MA, Pérez M, Moreno A, Condomines J, et al. (July 1996). "Generalized acquired cutis laxa associated with coeliac disease: evidence of immunoglobulin A deposits on the dermal elastic fibres". The British Journal of Dermatology. 135 (1): 130–4. doi:10.1046/j.1365-2133.1996.d01-950.x. PMID 8776377.
  6. Plopper G (2007). The extracellular matrix and cell adhesion, in Cells (eds Lewin B, Cassimeris L, Lingappa V, Plopper G). Sudbury, MA: Jones and Bartlett. ISBN 978-0-7637-3905-8.
  7. Nygaard RH, Maynard S, Schjerling P, Kjaer M, Qvortrup K, Bohr VA, et al. (2016-02-13). "Acquired Localized Cutis Laxa due to Increased Elastin Turnover". Case Reports in Dermatology. 8 (1): 42–51. doi:10.1159/000443696. PMC 4899661. PMID 27293393.
  8. Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, Autosomal Dominant - 123700
  9. Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, Autosomal Recessive, Type II - 219200
  10. Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, X-Linked - 304150
  11. Online Mendelian Inheritance in Man (OMIM): Cutis Laxa, Autosomal Recessive, Type I - 219100
  12. Online Mendelian Inheritance in Man (OMIM): Fibulin 5; FBLN5 - 604580
  13. Online Mendelian Inheritance in Man (OMIM): Pyrroline-5-Carboxylate Reductase 1; PYCR1 - 179035
  14. Online Mendelian Inheritance in Man (OMIM): Aldehyde Dehydrogenase 18 Family, Member A1; ALDH18A1 - 138250
  15. Reddy GP, Mishra B, Upadhyaya DN (2019). "Acquired Localized Cutis Laxa: A Case Report and the Role of Plastic Surgery". Indian Journal of Dermatology. 64 (1): 55–58. doi:10.4103/ijd.IJD_14_18. PMC 6340237. PMID 30745636.
  16. Rongioletti F, Cutolo M, Bondavalli P, Rebora A (January 2002). "Acral localized acquired cutis laxa associated with rheumatoid arthritis". Journal of the American Academy of Dermatology. 46 (1): 128–30. doi:10.1067/mjd.2002.117394. PMID 11756959.
  17. Randle HW, Muller S (June 1983). "Generalized elastolysis associated with systemic lupus erythematosus". Journal of the American Academy of Dermatology. 8 (6): 869–73. doi:10.1016/S0190-9622(83)80019-X. PMID 6345611.
  18. Maruani A, Arbeille B, Machet MC, Barbet C, Laure B, Martin L, Machet L (July 2010). "Ultrastructural demonstration of a relationship between acquired cutis laxa and monoclonal gammopathy". Acta Dermato-Venereologica. 90 (4): 406–8. doi:10.2340/00015555-0887. PMID 20574607.
  19. Nygaard RH, Maynard S, Schjerling P, Kjaer M, Qvortrup K, Bohr VA, et al. (2016-02-13). "Acquired Localized Cutis Laxa due to Increased Elastin Turnover". Case Reports in Dermatology. 8 (1): 42–51. doi:10.1159/000443696. PMC 4899661. PMID 27293393.
  20. Bouloc A, Godeau G, Zeller J, Wechsler J, Revuz J, Cosnes A (1999). "Increased fibroblast elastase activity in acquired cutis laxa". Dermatology. 198 (4): 346–50. doi:10.1159/000018146. PMID 10449932. S2CID 23679878.

Further reading
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