Skip to content
  • Argentina
  • Brazil
  • Canada
  • Chile
  • China
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
  • Altre regioni
  • 0039 0424-472449 Richiedi informazioni
  • 0039 0424-472449 Richiedi informazioni
ItalyItaly
  • Guida
    • Prevenzione di malattie ereditarie
    • Gravidanza serena
  • I nostri servizi
    • Per gli specialisti della salute
    • Per i pazienti
  • Diagnostica
  • Chi Siamo
  • Webinars
  • Utenti registrati
Genomics Precision Diagnostic > Connective Tissue Disorder > Cutis Laxa Precision Panel

Cutis Laxa Precision Panel

Cutis Laxa (CL), also known as elastolysis, is an inherited or acquired group of connective tissue disorders characterized by inelastic skin that hangs loosely in folds. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, the clinical presentation and mode of inheritance is heterogeneous. 
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • Cutis Laxa (CL), also known as elastolysis, is an inherited or acquired group of connective tissue disorders characterized by inelastic skin that hangs loosely in folds. Since the connective tissue is the tissue that helps body growth as well as serving as a scaffold for cells and organs, the clinical presentation and mode of inheritance is heterogeneous. Clinically, multiple organ systems are involved, leading to a severe, lethal multisystem disorder. Both acquired and inherited forms exist, the latter being inherited in an autosomal dominant, recessive and X-linked recessive patterns. Inborn errors of metabolism have been associated.  
  • The Igenomix Cutis Laxa Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of connective tissue disorders due to their overlapping phenotypic features ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

  • The Igenomix Cutis Laxa Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations: 
    • Early appearing loose, wrinkled skin, hanging in folds most prominent around the eyes, face, neck, shoulders and thighs 
    • Osteoporosis 
    • Gastrointestinal manifestations: diverticula of small and large bowel 
    • Pulmonary findings: bronchiectasis, emphysema 
    • Cardiovascular findings: cardiomegaly, congestive heart failure, murmurs, aortic aneurysms 

Clinical Utility

The clinical utility of this panel is: 

  • The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.   
  • Early initiation of treatment with a multidisciplinary team in the form of medical treatment and surveillance to prevent complications and/or surgical care or redundant skin folds and other organic manifestations. 
  • Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 
  • Improvement of delineation of genotype-phenotype correlation due to overlapping features of connective tissue disorders. 

Genes & Diseases

Methodology

References

See scientific referrals

Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes. J Inherit Metab Dis. 2011 Aug. 34 (4):907-16. 

Berk, D. R., Bentley, D. D., Bayliss, S. J., Lind, A., & Urban, Z. (2012). Cutis laxa: a review. Journal of the American Academy of Dermatology, 66(5), . https://doi.org/10.1016/j.jaad.2011.01.004 

Mohamed, M., Voet, M., Gardeitchik, T., & Morava, E. (2014). Cutis Laxa. Advances in experimental medicine and biology, 802, 161–184. https://doi.org/10.1007/978-94-007-7893-1_11 

Duque Lasio, M. L., & Kozel, B. A. (2018). Elastin-driven genetic diseases. Matrix biology : journal of the International Society for Matrix Biology, 71-72, 144–160. https://doi.org/10.1016/j.matbio.2018.02.021 

Gupta, N., & Phadke, S. (2006). Cutis Laxa Type II and Wrinkly Skin Syndrome: Distinct Phenotypes. Pediatric Dermatology, 23(3), 225-230. doi: 10.1111/j.1525-1470.2006.00222.x 

descargar

Detail description

Download

BROCHURE

Download

Request Information


  • reCAPTCHA demo: Simple page

GUIDA

Fertilità
Prevenzione di malattie ereditarie
Gravidanza serena

I NOSTRI SERVIZI

Soluzioni genetiche
Informazioni sulla genetica

PANORAMICA

Informazioni su Igenomix
Contatti
Come inviare un campione
Qualità
Lavora con noi
News and Press

   0039 0424-472449
Contatti
  • Argentina
  • Brazil
  • Canada
  • Chile
  • China
  • Colombia
  • Europe
  • France
  • Germany
  • India
  • Italy
  • Japan
  • Korea
  • Mexico
  • Perú
  • Russia
  • Spain
  • Taiwan
  • The Middle East
  • Turkey
  • United Kingdom
  • United States
  • Vietnam
Linguaggio

[2019] © Igenomix Politica sulla privacyPolitica qualità Politica dei cookie       Soddisfazione       Manuale dell’utente

Richiedi informazioni








  • reCAPTCHA demo: Simple page











  • Guida
    • Prevenzione di malattie ereditarie
    • Gravidanza serena
  • I nostri servizi
    • Per gli specialisti della salute
    • Per i pazienti
  • Diagnostica
  • Chi Siamo
  • Webinars
  • Altre regioni
  • Utenti registrati
  • Area pazienti
  • Area cliniche