Cutis laxa: A review - 16/04/12

Doi : 10.1016/j.jaad.2011.01.004

David R. Berk, MD ^a,^⁎ , Danette D. Bentley, MD ^c, Susan J. Bayliss, MD ^a, Anne Lind, MD ^b, Zsolt Urban, PhD ^d
^a Departments of Internal Medicine and Pediatrics, Division of Dermatology, Washington University School of Medicine and St Louis Children’s Hospital, St Louis, Missouri
^b Department of Pathology and Immunology, Washington University School of Medicine and St Louis Children’s Hospital, St Louis, Missouri
^c Department of Dermatology, University of Alabama School of Medicine, Birmingham, Alabama
^d Department of Human Genetics, University of Pittsburgh Graduate School of Public Health, Pittsburgh, Pennsylvania

Reprint requests: David R. Berk, MD, Division of Dermatology, Washington University School of Medicine, Campus Box 8123, 4921 Parkview Pl, St Louis, MO 63110.

Abstract

Cutis laxa is a rare disorder of elastic tissue resulting in loose, redundant, hypoelastic skin. Both acquired and inherited forms exist, some of which have significant systemic manifestations. Here, we review the various forms of cutis laxa, with focus on the inherited forms. Recent molecular studies have provided many new insights into the causes of cutis laxa and revealed greater genetic heterogeneity than previously appreciated.

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Key words : cutis laxa, elastic tissue, elastin, fibulin-4, fibulin-5, genodermatosis

Abbreviations used : ACL, ADCL, ARCL, ATS, CL, DBS, EDS, MACS, PXE, TGF, URDS, XLCL

Plan

Introduction and classification of cutis laxa

Ultrastructural review of elastic fibers

Histopathology of CL

Inherited forms of CL

Autosomal dominant CL

ARCL type I

ARCL type II

ARCL type III (DBS)

Urban-Rifkin-Davis syndrome

MACS syndrome

Arterial tortuosity syndrome

XLCL (occipital horn syndrome)/Menkes disease

Treatment of CL

Acquired CL

Other syndromes with lax and/or wrinkled skin

Differential diagnosis of CL

Ehlers-Danlos syndrome

Pseudoxanthoma elasticum

Conclusions

	The first two authors contributed equally to this research/article.
	Funded in part by National Institutes of Health grants HL073703, HL084922, and HL090648 and March of Dimes grant 1-FY09-402 to Dr Urban.
	Conflicts of interest: None declared.