Acquired Localized Cutis Laxa due to Increased Elastin Turnover

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Region Hovedstaden - en del af Københavns Universitetshospital

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Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Author

Nygaard, Rie Harboe ; Maynard, Scott ; Schjerling, Peter ; Kjaer, Michael ; Qvortrup, Klaus ; Bohr, Vilhelm A. ; Rasmussen, Lene J. ; Jemec, Gregor B.E. ; Heidenheim, Michael. / Acquired Localized Cutis Laxa due to Increased Elastin Turnover. I: Case Reports in Dermatology. 2016 ; Bind 8, Nr. 1. s. 42-51.

Bibtex

@article{ad3c6ae6afda493a9d0a8dfc1d3f3ab5,

title = "Acquired Localized Cutis Laxa due to Increased Elastin Turnover",

abstract = "Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin and total RNA. Levels of an apparent tropoelastin degradation product were higher in the affected area. Fibroblast cultures from the affected area were able to produce elastin and showed higher proliferation and survival after oxidative and UVB stress compared to fibroblasts from the unaffected area. In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patient's upper body. The lack of elastic fibers in the affected skin was combined with increased mRNA expression and protein levels of elastin. These findings indicate that elastin synthesis was increased but did not lead to deposited elastic fibers in the tissue.",

keywords = "Collagen, Dermal aging, Irregular elastin deposition",

author = "Nygaard, {Rie Harboe} and Scott Maynard and Peter Schjerling and Michael Kjaer and Klaus Qvortrup and Bohr, {Vilhelm A.} and Rasmussen, {Lene J.} and Jemec, {Gregor B.E.} and Michael Heidenheim",

year = "2016",

doi = "10.1159/000443696",

language = "English",

volume = "8",

pages = "42--51",

journal = "Case Reports in Dermatology",

issn = "1662-6567",

publisher = "S.Karger AG",

number = "1",

}

RIS

TY - JOUR

T1 - Acquired Localized Cutis Laxa due to Increased Elastin Turnover

AU - Nygaard, Rie Harboe

AU - Maynard, Scott

AU - Schjerling, Peter

AU - Kjaer, Michael

AU - Qvortrup, Klaus

AU - Bohr, Vilhelm A.

AU - Rasmussen, Lene J.

AU - Jemec, Gregor B.E.

AU - Heidenheim, Michael

PY - 2016

Y1 - 2016

N2 - Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin and total RNA. Levels of an apparent tropoelastin degradation product were higher in the affected area. Fibroblast cultures from the affected area were able to produce elastin and showed higher proliferation and survival after oxidative and UVB stress compared to fibroblasts from the unaffected area. In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patient's upper body. The lack of elastic fibers in the affected skin was combined with increased mRNA expression and protein levels of elastin. These findings indicate that elastin synthesis was increased but did not lead to deposited elastic fibers in the tissue.

AB - Cutis laxa is a rare disease characterized by abnormal skin wrinkling and laxity, due to decreased elastin synthesis or structural extracellular matrix defects. We have explored elastin metabolism in a case of adult onset cutis laxa localized to the upper body of a woman. For this purpose, we obtained skin biopsies from affected and unaffected skin areas of the patient and analyzed these with microscopy, polymerase chain reaction, western blotting and cell culture experiments. Skin from the affected area lacked elastin fibers in electron microscopy but had higher mRNA expression of elastin and total RNA. Levels of an apparent tropoelastin degradation product were higher in the affected area. Fibroblast cultures from the affected area were able to produce elastin and showed higher proliferation and survival after oxidative and UVB stress compared to fibroblasts from the unaffected area. In conclusion, we report a case of acquired localized cutis laxa with a lack of elastic fibers in the skin of the patient's upper body. The lack of elastic fibers in the affected skin was combined with increased mRNA expression and protein levels of elastin. These findings indicate that elastin synthesis was increased but did not lead to deposited elastic fibers in the tissue.

KW - Collagen

KW - Dermal aging

KW - Irregular elastin deposition

UR - http://www.scopus.com/inward/record.url?scp=84988697523&partnerID=8YFLogxK

U2 - 10.1159/000443696

DO - 10.1159/000443696

M3 - Journal article

AN - SCOPUS:84988697523

VL - 8

SP - 42

EP - 51

JO - Case Reports in Dermatology

JF - Case Reports in Dermatology

SN - 1662-6567

IS - 1

ER -

ID: 51922423