Sections

Workup

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.

Direct mutation analysis may be performed to specifically differentiate forms of cutis laxa.^[38]

Imaging Studies

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

Other Tests

Pulmonary function tests may be performed

Procedures

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

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.^[39]

Note the image below.

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

View Media Gallery

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.

Treatment & Management

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Media Gallery

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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Author

Marc Zachary Handler, MD Fellow in Mohs Micrographic Surgery, Skin Laser and Surgery Specialists of NY and NJ

Marc Zachary Handler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, European Society for Pediatric Dermatology, International Society of Dermatology, New York Academy of Medicine, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Dermatology

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

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.

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.

Acknowledgements

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

Disclosure: Nothing to disclose.

Cutis Laxa (Elastolysis) Workup

Laboratory Studies

Imaging Studies

Other Tests

Procedures

Histologic Findings

References

Tables

Contributor Information and Disclosures

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