TY - CHAP
T1 - Cutis laxa
AU - Mohamed, Miski
AU - Voet, Michiel
AU - Gardeitchik, Thatjana
AU - Morava, Eva
N1 - Publisher Copyright:
© Springer Science+Business Media Dordrecht 2014.
PY - 2014
Y1 - 2014
N2 - Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components. Recently, different inborn errors of metabolism have been found to be associated with cutis laxa as well. In some of these metabolic conditions the pathomechanism of cutis laxa remains unknown. Cutis laxa can be inherited in an autosomal dominant, autosomal recessive and X-linked recessive inheritance pattern. Besides the skin abnormalities, in most inherited forms multiple organ systems are involved, leading to a severe, in some forms even lethal, multisystem disorder. To date no effective treatment is available for cutis laxa. This chapter focuses on inherited forms of cutis laxa, offering a practical guideline for clinicians, biochemist and geneticist to diagnose and differentiate between the different forms of cutis laxa, and providing a concise theoretical reference.
AB - Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components. Recently, different inborn errors of metabolism have been found to be associated with cutis laxa as well. In some of these metabolic conditions the pathomechanism of cutis laxa remains unknown. Cutis laxa can be inherited in an autosomal dominant, autosomal recessive and X-linked recessive inheritance pattern. Besides the skin abnormalities, in most inherited forms multiple organ systems are involved, leading to a severe, in some forms even lethal, multisystem disorder. To date no effective treatment is available for cutis laxa. This chapter focuses on inherited forms of cutis laxa, offering a practical guideline for clinicians, biochemist and geneticist to diagnose and differentiate between the different forms of cutis laxa, and providing a concise theoretical reference.
KW - ARCL type 1A (ARCL1A MIM 219100)
KW - ARCL type 1B (ARCL1B MIM 614437)
KW - ARCL type 2
KW - ARCL1C
KW - Autosomal recessive cutis laxa (ARCL)
KW - Debré-type cutis laxa (ARCL2A MIM 219200)
KW - EFEMP2 or FBLN4 (MIM 604633)
KW - FBLN5 (MIM 604580)
KW - LTBP4 (MIM 604710)
KW - Urban-Rifkin- Davis Syndrome (URDS MIM 613177)
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U2 - 10.1007/978-94-007-7893-1_11
DO - 10.1007/978-94-007-7893-1_11
M3 - Chapter
C2 - 24443027
AN - SCOPUS:84959226802
SN - 9789400778924
T3 - Advances in Experimental Medicine and Biology
SP - 161
EP - 184
BT - Progress in Heritable Soft Connective Tissue Diseases
PB - Springer New York LLC
ER -