A Comparative Clinical and Genetic Study on the Co-Occurrence of Connective Tissue Disorders with Dermatological and Orthopedic Manifestations
DOI:
https://doi.org/10.48047/Keywords:
Connective Tissue Disorders, Dermatological Manifestations, Orthopedic Conditions, Genetic Mutations, Ehlers-Danlos Syndrome, Marfan Syndrome, Osteogenesis ImperfectaAbstract
Connective tissue disorders abbreviated as CTD are part of the autoimmune diseases that
involve structural proteins in body fluids and cells including collagen and elastin. These
conditions are usually characterized by skin and bone symptoms, joint laxity, spinal curves or
scoliosis, fragile skin, and slow healing of skin injuries. Thus, the purpose of the present
research is to investigate the clinical relationships and genetic predisposition of such
complications in major CTDs such as EDS, Marfan, and OI. A review of literature was carried
out and only articles published between 2010 and 2018 were used for the analysis. The results
indicated that there are general trends showing that clinical Dual-system involvement is
frequent in patients with certain gene abnormalities in genes COL5A1, COL1A1, and FBN1.
Enhanced knowledge of such relations may help in the diagnosis at an early stage, in correct
classification and in the construction of the multimodal care plan for the patient.
