Medscape is available in 5 Language Editions – Choose your Edition here.


Cutis Laxa (Elastolysis) Clinical Presentation

  • Author: Daniel J Hogan, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Sep 18, 2014


Patients report progressive laxity and sagging of the skin as they notice the development of loose, wrinkled skin. Note the image below.

Prominent skin laxity and wrinkling on the back. Prominent skin laxity and wrinkling on the back.

A history of an inflammatory process involving the skin preceding the development of loose folds of skin may be present. Patients may have a family history of a skin disorder. A history of prior penicillin or penicillamine use may be present.

Urticarial lesions preceding acquired cutis laxa (elastolysis) have been reported in association with alpha-1 antitrypsin deficiency. Acquired cutis laxa (elastolysis) can also occur in association with complement deficiency (C3 and C4), systemic lupus erythematosus, sarcoidosis,[13] multiple myeloma,[14, 15, 16] , systemic amyloidosis,[17] and immunoglobulin G (IgG)–4 heavy-chain deposition disease of the kidneys.[18]



Physical findings may include the following:

  • Skin (primary lesion): The skin is loose, inelastic, and hangs in folds. Loose, pendulous skin gives the appearance of aging; therefore, patients appear much older than their actual age. The skin demonstrates decreased elastic recoil on stretching. Skin fragility, easy bruisability, and poor wound healing are not associated with cutis laxa (elastolysis).
  • Skin (distribution): Any portion of the body may be affected; however, the loose appearance is most prominent around the eyes, the face, the neck, the shoulders, and the thighs. In many cases of acquired cutis laxa (elastolysis), involvement of the face and the neck occurs first and progresses in a cephalocaudal fashion.
  • Gastrointestinal tract: Diverticula of the small and large bowels may be present; rectal prolapse may occur.
  • Pulmonary: Bronchiectasis, emphysema, and cor pulmonale may be present. In acquired cutis laxa (elastolysis), pulmonary involvement typically manifests as emphysema due to the loss of the elastin support network and is the most common cause of death in these patients.
  • Cardiovascular: Cardiomegaly, congestive heart failure, murmurs, cor pulmonale, and aortic aneurysms may occur. Severe aortic disease may be present as a result of aortic vessel medial degeneration and extracellular elastin deposits lacking microfibrillar elements. [19]
  • Skeletal: Dislocation of the hips; osteoporosis; and other skeletal abnormalities, such as growth retardation, delayed fontanelle closure, and ligamentous laxity, may be present.
  • Other: Umbilical, inguinal, and hiatal hernias may occur.


The underlying cause of cutis laxa (elastolysis) is unknown and probably variable. Most hypotheses suggest possible mechanisms for the reduction of elastic fibers in cutis laxa (elastolysis). Those most often reported in literature are as follows:

  • Abnormal copper metabolism/copper deficiency
  • Decreased serum elastase inhibitor level
  • Low lysyl oxidase activity
  • Increased elastase activity
  • Postinflammatory elastolysis
  • Immune-mediated mechanism
  • Decreased elastin gene expression
Contributor Information and Disclosures

Daniel J Hogan, MD Clinical Professor of Internal Medicine (Dermatology), Nova Southeastern University College of Osteopathic Medicine; Investigator, Hill Top Research, Florida Research Center

Daniel J Hogan, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, Canadian Dermatology Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Susan M Swetter, MD Director, Pigmented Lesion and Melanoma Program, Professor, Department of Dermatology, Stanford University Medical Center and Cancer Institute, Veterans Affairs Palo Alto Health Care System

Susan M Swetter, MD is a member of the following medical societies: American Academy of Dermatology, Women's Dermatologic Society, American Society of Clinical Oncology, Society for Melanoma Research, Eastern Cooperative Oncology Group, American Medical Association, Pacific Dermatologic Association, Society for Investigative Dermatology

Disclosure: Nothing to disclose.


Tina Molis, MD, PhD Staff Physician, Department of Radiology, St Francis Medical Center, University of Illinois at Peoria

Disclosure: Nothing to disclose.

  1. Loeys B, Van Maldergem L, Mortier G, et al. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002 Sep 1. 11(18):2113-8. [Medline].

  2. Morava E, Lefeber DJ, Urban Z, et al. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan. 16(1):28-35. [Medline].

  3. Graul-Neumann LM, Hausser I, Essayie M, Rauch A, Kraus C. Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene. Am J Med Genet A. 2008 Apr 15. 146A(8):977-83. [Medline].

  4. Khakoo A, Thomas R, Trompeter R, Duffy P, Price R, Pope FM. Congenital cutis laxa and lysyl oxidase deficiency. Clin Genet. 1997 Feb. 51(2):109-14. [Medline].

  5. Hill VA, Seymour CA, Mortimer PS. Pencillamine-induced elastosis perforans serpiginosa and cutis laxa in Wilson's disease. Br J Dermatol. 2000 Mar. 142(3):560-1. [Medline].

  6. Gonzalez-Rodriguez AJ, Bella-Navarro R, Ramon Quiles D, Jorda-Cuevas E. [Acquired cutis laxa associated with monoclonal gammopathy and lambda light chain deposition disease]. Dermatol Online J. 2014 May 16. 20(5):22611. [Medline].

  7. New HD, Callen JP. Generalized acquired cutis laxa associated with multiple myeloma with biphenotypic IgG-? and IgA-? gammopathy following treatment of a nodal plasmacytoma. Arch Dermatol. 2011 Mar. 147(3):323-8. [Medline].

  8. O'Malley JT, D'Agati VD, Sherman WH, Grossman ME. Acquired Cutis Laxa Associated With Heavy Chain Deposition Disease Involving Dermal Elastic Fibers. JAMA Dermatol. 2014 Aug 13. [Medline].

  9. Koklu E, Gunes T, Ozturk MA, Akcakus M, Buyukkayhan D, Kurtoglu S. Cutis laxa associated with central hypothyroidism owing to isolated thyrotropin deficiency in a newborn. Pediatr Dermatol. 2007 Sep-Oct. 24(5):525-8. [Medline].

  10. Anderson CE, Finklestein JZ, Nussbaum E, Larson EJ, Halpern R, Uitto J, et al. Association of hemolytic anemia and early-onset pulmonary emphysema in three siblings. J Pediatr. 1984 Aug. 105(2):247-51. [Medline].

  11. Alehossein M, Pourgholami M, Kamrani K, Soltani M, Yazdi A, Salamati P. Radiologic findings in cutis laxa syndrome and unusual association with hypertrophic pyloric stenosis. Iran J Radiol. 2013 Jun. 10(2):94-8. [Medline]. [Full Text].

  12. Bharadwaj S, Shrestha P, Gohel TD, Singh M. Cutis laxa presenting as recurrent ileus. Gastroenterol Rep (Oxf). 2014 Jul 9. [Medline].

  13. Lewis FM, Lewis-Jones S, Gipson M. Acquired cutis laxa with dermatitis herpetiformis and sarcoidosis. J Am Acad Dermatol. 1993 Nov. 29(5 Pt 2):846-8. [Medline].

  14. Ting HC, Foo MH, Wang F. Acquired cutis laxa and multiple myeloma. Br J Dermatol. 1984 Mar. 110(3):363-7. [Medline].

  15. McCarty MJ, Davidson JM, Cardone JS, Anderson LL. Cutis laxa acquisita associated with multiple myeloma: a case report and review of the literature. Cutis. 1996 Apr. 57(4):267-70. [Medline].

  16. Gupta A, Helm TN. Acquired cutis laxa associated with multiple myeloma. Cutis. 2002 Feb. 69(2):114-8. [Medline].

  17. Newton JA, McKee PH, Black MM. Cutis laxa associated with amyloidosis. Clin Exp Dermatol. 1986 Jan. 11(1):87-91. [Medline].

  18. Tan S, Pon K, Bargman J, Ghazarian D. Generalized cutis laxa associated with heavy chain deposition disease. J Cutan Med Surg. 2003 Sep-Oct. 7(5):390-4. [Medline].

  19. Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, et al. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010 Aug. 18(8):895-901. [Medline]. [Full Text].

  20. Rajab A, Kornak U, Budde BS, Hoffmann K, Jaeken J, Nurnberg P, et al. Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman. Am J Med Genet A. 2008 Apr 15. 146A(8):965-76. [Medline].

  21. Rao BK, Endzweig CH, Kagen MH, Kriegel D, Freeman RG. Wrinkling due to mid-dermal elastolysis: two cases and literature review. J Cutan Med Surg. 2000 Jan. 4(1):40-4. [Medline].

  22. Filippopoulos T, Paula JS, Torun N, Hatton MP, Pasquale LR, Grosskreutz CL. Periorbital changes associated with topical bimatoprost. Ophthal Plast Reconstr Surg. 2008 Jul-Aug. 24(4):302-7. [Medline].

  23. Gupta N, Phadke SR. Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes. Pediatr Dermatol. 2006 May-Jun. 23(3):225-30. [Medline].

  24. Gu W, Liu W, Yang X, Yuan X, Tian Y, Meng R, et al. Cutis laxa: analysis of metalloproteinases and extracellular matrix expression by immunohistochemistry and histochemistry. Eur J Dermatol. 2011 Sep-Oct. 21(5):717-21. [Medline].

  25. Tamura BM, Lourenço LM, Platt A, Pertel P, Santos LF, Levites J. Cutis laxa: Improvement of facial aesthetics by using botulinum toxin. Dermatol Surg. 2004 Dec. 30(12 Pt 2):1518-20. [Medline].

  26. Scherrer DZ, Alexandrino F, Cintra ML, Sartorato EL, Steiner CE. Type II autosomal recessive cutis laxa: report of another patient and molecular studies concerning three candidate genes. Am J Med Genet A. 2008 Nov 1. 146A(21):2740-5. [Medline].

  27. Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, Puntel RA, Yin Loke K, et al. Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene. J Med Genet. 2006 Mar. 43(3):255-8. [Medline].

Prominent skin laxity and wrinkling on the back.
Marked diminution of elastic fibers in the lower dermis (Verhoeff-van Gieson stain). Courtesy of Dr F. Abreo.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.