Cutis Laxa Overview
Learn About Cutis Laxa
Cutis laxa is a disorder of connective tissue, which is the tissue that provides structure and strength to the muscles, joints, organs, and skin. Most cases are inherited, but some are acquired, which means they do not appear to be caused by genetic variations. While signs and symptoms of inherited cutis laxa are often noticeable in infancy or childhood, acquired cutis laxa typically appears later in life. This summary primarily describes inherited forms of cutis laxa.
Cutis laxa can be caused by variants (also known as mutations) in several genes. Autosomal dominant cutis laxa (ADCL), the most common form of the disorder, is primarily caused by variants in the ELN gene. Very rarely, FBLN5 and ALDH18A1 gene variants are associated with autosomal dominant forms of the disorder. Autosomal recessive cutis laxa (ARCL) can be caused by variants in the FBLN5, EFEMP2, LTBP4, ATP6V0A2, PYCR1, or ALDH18A1 gene.
Cutis laxa is a rare disorder. More than 450 affected families worldwide have been reported.
Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance.
Uwe Kornak practices in Goettingen, Germany. Mr. Kornak and is rated as an Elite expert by MediFind in the treatment of Cutis Laxa. His top areas of expertise are De Barsy Syndrome, Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1, and Gerodermia Osteodysplastica.
Bert Callewaert practices in Gent, Belgium. Mr. Callewaert and is rated as an Elite expert by MediFind in the treatment of Cutis Laxa. His top areas of expertise are Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1, Arterial Tortuosity Syndrome, and Myhre Syndrome.
Bjorn Zirnsak-Fischer practices in Berlin, Germany. Mr. Zirnsak-Fischer and is rated as an Elite expert by MediFind in the treatment of Cutis Laxa. His top areas of expertise are Cutis Laxa, Autosomal Recessive Cutis Laxa Type 1, Wrinkly Skin Syndrome, and Lung Agenesis.
Summary: The goal of this observational study is to understand the perspectives and needs of patients with genodermatoses and their partners who wish to have children, regarding their decision-making process and their consideration of reproductive options. Additionally, the investigators aim to investigate the level of knowledge and perspectives of healthcare professionals (such as clinical geneticists, de...
Summary: The main purpose of this study is to define the complex genetic and pathogenic basis of thoracic aortic aneurysm (TAA) and other forms of aortopathy and/or aortic valve disease by identifying novel disease-causing genes and by identifying important genetic modifiers for aortic and aortic valve disease severity.
Published Date: August 05, 2021
Published By: National Institutes of Health