Cutis Laxa (Elastolysis) Workup

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

Laboratory Studies

Although no routine laboratory findings are present in cutis laxa (elastolysis), a CBC count may reveal normochromic, normocytic anemia, while total protein and beta-2 microglobulin levels may be elevated.

Serum protein electrophoresis and quantitative immunoglobulins can be performed to assess for myeloma.

Direct immunofluorescence studies for IgG, immunoglobulin A (IgA), immunoglobulin M (IgM), C3, C1q, and fibrin may be performed to assess for related conditions, such as lupus erythematosus.

Serum copper, zinc, ceruloplasmin, alpha-1 antitrypsin, C4, rapid plasma reagent, and antinuclear antibody levels can be measured.

Serum and urine elastin peptide levels may be elevated.

Thyroid function tests may be considered in newborns with cutis laxa.

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Imaging Studies

An echocardiogram may be obtained. A chest radiograph can be obtained to help check for pulmonary involvement.

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Other Tests

Pulmonary function tests may be performed

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Procedures

A skin biopsy and/or a bone marrow biopsy may be performed.

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Histologic Findings

No specific histologic abnormality is seen on routine stains with hematoxylin and eosin. On elastic fiber stains, all types of cutis laxa (elastolysis) show a reduction in the number of elastic fibers throughout the dermis, with remaining fibers being shortened, clumped, granular, or fragmented. In severe cases, no elastic fibers may be present, but only fine, dustlike particles scattered throughout the dermis can be seen. In cases preceded by an inflammatory eruption, such as urticaria or vesicles, the inflammatory infiltrate may be mononuclear (lymphocytes and histiocytes) or mixed, containing neutrophils. When vesicles are present, they are subepidermal, with papillary collections of neutrophils and eosinophils mimicking dermatitis herpetiformis.[19]

Note the image below.

Marked diminution of elastic fibers in the lower dMarked diminution of elastic fibers in the lower dermis (Verhoeff-van Gieson stain). Courtesy of Dr F. Abreo.

Involved visceral organs show granular changes in the elastic fibers similar to those seen in the skin. Collagen abnormalities have also been described but are ultrastructurally nonspecific.

Electron microscopic examination reveals degenerative changes in the elastic fibers, which are variable from case to case. However, the most significant finding is the presence of electron-dense amorphous or granular aggregates that are irregularly distributed in the vicinity of the elastic fibers.

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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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