Cutis Laxa (Elastolysis) Differential Diagnoses

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

Differential Diagnoses

Proceed to Workup
 
 
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

  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. Sep 1 2002;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. Jan 2008;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. Apr 15 2008;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. Feb 1997;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. Mar 2000;142(3):560-1. [Medline].

  6. 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. Sep-Oct 2007;24(5):525-8. [Medline].

  7. 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. Aug 1984;105(2):247-51. [Medline].

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

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

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

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

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

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

  14. 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. Aug 2010;18(8):895-901. [Medline]. [Full Text].

  15. 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. Apr 15 2008;146A(8):965-76. [Medline].

  16. 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. Jan 2000;4(1):40-4. [Medline].

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

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

  19. 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. Sep-Oct 2011;21(5):717-21. [Medline].

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

  21. Boente MC, Winik BC, Asial RA. Wrinkly skin syndrome: ultrastructural alterations of the elastic fibers. Pediatr Dermatol. Mar-Apr 1999;16(2):113-7. [Medline].

  22. Bouloc A, Godeau G, Zeller J, Wechsler J, Revuz J, Cosnes A. Increased fibroblast elastase activity in acquired cutis laxa. Dermatology. 1999;198(4):346-50. [Medline].

  23. Chartier S, Faucher L, Tousignant J, Rochette L. Acquired cutis laxa associated with cutaneous angiocentric T-cell lymphoma. Int J Dermatol. Oct 1997;36(10):772-6. [Medline].

  24. Debelle L, Tamburro AM. Elastin: molecular description and function. Int J Biochem Cell Biol. Feb 1999;31(2):261-72. [Medline].

  25. Fornieri C, Quaglino D, Lungarella G, et al. Elastin production and degradation in cutis laxa acquisita. J Invest Dermatol. Oct 1994;103(4):583-8. [Medline].

  26. George S, Jacob M, Pulimood S, Chandi SM. Cutis laxa. Clin Exp Dermatol. Sep 1998;23(5):211-3. [Medline].

  27. Greaney MJ, Richards AB. Bilateral orbital fat prolapse in cutis laxa. Br J Ophthalmol. Jun 1998;82(6):713-4. [Medline].

  28. Hatamochi A, Kuroda K, Shinkai H, Kohma H, Oishi Y, Inoue S. Regulation of matrix metalloproteinase (MMP) expression in cutis laxa fibroblasts: upregulation of MMP-1, MMP-3 and MMP-9 genes but not of the MMP-2 gene. Br J Dermatol. May 1998;138(5):757-62. [Medline].

  29. Kumar S, Sehgal VN, Sharma RC. Common genodermatoses. Int J Dermatol. Oct 1996;35(10):685-94. [Medline].

  30. Martín L, Requena L, Yus ES, Furio V, Farina MC. Acrolocalized acquired cutis laxa. Br J Dermatol. May 1996;134(5):973-6. [Medline].

  31. Nahas FX, Sterman S, Gemperli R, Ferreira MC. The role of plastic surgery in congenital cutis laxa: a 10-year follow-up. Plast Reconstr Surg. Sep 1999;104(4):1174-8; discussion 1179. [Medline].

  32. Nikko A, Dunnigan M, Black A, Cockerell CJ. Acquired cutis laxa associated with a plasma cell dyscrasia. Am J Dermatopathol. Oct 1996;18(5):533-7. [Medline].

  33. Ozkan S, Fetil E, Gunes AT, et al. Cutis laxa acquisita: is there any association with Borrelia burgdorferi?. Eur J Dermatol. Oct-Nov 1999;9(7):561-4. [Medline].

  34. Robertson SP, Bankier A. Sotos syndrome and cutis laxa. J Med Genet. Jan 1999;36(1):51-6. [Medline].

  35. 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. Nov 1 2008;146A(21):2740-5. [Medline].

  36. Sephel GC, Byers PH, Holbrook KA, Davidson JM. Heterogeneity of elastin expression in cutis laxa fibroblast strains. J Invest Dermatol. Jul 1989;93(1):147-53. [Medline].

  37. 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. Mar 2006;43(3):255-8. [Medline].

  38. Tassabehji M, Metcalfe K, Hurst J, et al. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet. Jun 1998;7(6):1021-8. [Medline].

  39. Uenishi T, Uchiyama M, Sugiura H, Danno K. Pseudoxanthoma elasticum with generalized cutaneous laxity. Arch Dermatol. May 1997;133(5):664-6. [Medline].

  40. Uitto J, Ryhänen L, Abraham PA, Perejda AJ. Elastin in diseases. J Invest Dermatol. Jul 1982;79 Suppl 1:160s-168s. [Medline].

  41. Zlotogora J. Wrinkly skin syndrome and the syndrome of cutis laxa with growth and developmental delay represent the same disorder. Am J Med Genet. Jul 16 1999;85(2):194. [Medline].

 
Previous
Next
 
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 © 1994-2012 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.