Cutis Laxa (Elastolysis) Clinical Presentation

  • Author: Daniel J Hogan, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 17, 2012
 

History

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,[8] multiple myeloma,[9, 10, 11] , systemic amyloidosis,[12] and immunoglobulin G (IgG)–4 heavy-chain deposition disease of the kidneys.[13]

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Physical

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.[14]
  • 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.
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Causes

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
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Contributor Information and Disclosures
Author

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, and Canadian Dermatology Association

Disclosure: Nothing to disclose.

Coauthor(s)

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

Disclosure: Nothing to disclose.

Specialty Editor Board

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, American Medical Association, American Society of Clinical Oncology, Eastern Cooperative Oncology Group, Pacific Dermatologic Association, Society for Investigative Dermatology, Society for Melanoma Research, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

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, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association

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 and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Joel M Gelfand, MD, MSCE  Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania

Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology

Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds Investigator; Genentech Grant/research funds investigator; Centocor Consulting fee Consulting; Abbott Grant/research funds investigator; Abbott Consulting fee Consulting; Novartis investigator; Pfizer Grant/research funds investigator; Celgene Consulting fee DMC Chair; NIAMS and NHLBI Grant/research funds investigator

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

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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.
 
 
 
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