Vascular abnormalities in congenital cutis laxa--report of two cases

Acta Paediatrica Japonica; Overseas Edition
A TsujiH Hajikano

Abstract

Two cases of Japanese girls with congenital cutis laxa associated with cardiovascular abnormalities are described. Case 1: A 12-year-old girl has been under our observation from the age of 6 months. Cardioangiogram revealed dilatation of the ascending aorta, meandering of the descending aorta and the coronary arteries, coiling of the carotid and innominate (brachiocephalic) arteries, and hypoplasia of the pulmonary arteries. Case 2: A 2.8/12-year-old girl died after our follow-up from the age of 3 months. The cause of death was congestive heart failure secondary to peripheral stenosis of the pulmonary arteries. In both cases, skin biopsy revealed a decreased number of elastic fibers and an increased amount of acidic mucopolysaccharides. The same histological features were observed in the pulmonary arteries and other arteries as well. Electron microscopic findings were diffuse thinning of elastic fibers and reduced elastic content. The high blood level of elastase (167.8 micrograms/l) in case 1 may cast a light on the unknown etiology of the disease.

References

Jul 1, 1975·Archives of Dermatology·K Hashimoto, T Kanzaki
Apr 1, 1968·The Journal of Pediatrics·J G HaydenS N Klaus
Jul 1, 1968·The Journal of Pediatrics·B A Hajjar, E N Joyner
Oct 1, 1965·Archives of Dermatology·R W GoltzR J Gorlin

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Citations

Mar 6, 2012·Journal of the American Academy of Dermatology·David R BerkZsolt Urban
Nov 21, 2009·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·Deepali JainMarc K Halushka
Jun 1, 1994·Journal of the American Academy of Dermatology·M G LebwohlR Fleischmajer
Jun 16, 2005·The Journal of Investigative Dermatology·Zsolt UrbanElaine C Davis
Feb 25, 2014·International Journal of Cardiology·Alistair C LindsayMichael B Rubens
Oct 18, 2002·Pediatric Dermatology·Nesibe AndiranMelda Cağlar

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