Ehlers danlos syndrome case.pptx

It is a case presentation on Ehler's Danlos syndrome with a basic explanation of the disease and some treatment options.

1. EHLER’S DANLOS SYNDROMES

2. CASE PRESENTATION A 30-year-old female presented to the plastic-surgery clinic with widen atrophic scars on forehead, elbows, knees and pretibial area that had developed since childhood. Physical examination revealed skin hyper extensibility , joint hypermobility, papyraceous scar and easy bruising. Ocular features such as epicanthal folds, infraorbital creases , and hypertelorism were also been observed in this patient .

3. Results of laboratory tests and radiography examinations were normal. No vascular abnormalities were found, and the family history was negative. Whole exome sequencing revealed that the proband carried a heterozygous pathogenic variant , c1997G > A (p.P659P) , in COL5A2 gene . Sanger sequencing of COL5A2 in this patient also confirmed the presence of this variant.

4. The diagnosis of the classical Ehlers – Danlos syndrome was made. The patient underwent facial scar resection and sutured in minimizing tension and perfect apposition to avoid the post-surgery scar formation. Follow-up 6 months after surgery, the wound remained a fine line scar.

5. INTRODUCTION The Ehlers- Danlos syndromes (EDS) are a group of hereditary disorders of  connective tissue that are varied in the ways they affect the body and in their genetic causes. The underlying concern is the abnormal structure or function of collagen and certain allied connective tissue proteins.  

6. CAUSE In the Ehlers-Danlos syndromes , there are faults in the  genes that determine how the body makes collagen , and/or in some subtypes other proteins that work alongside collagen. This leads to the connective tissue becoming weaker. Different tissues and organs can be affected in diverse ways depending on the genetic fault. This explains why there are several subtypes of EDS. 

7. CLASSICAL EDS Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. Most of the causative variants result in a non-functional COL5A1 allele and COLLV haploinsufficiency, whilst COL5A2 mutations affect its structural integrity.

8. DIAGNOSIS MAJOR CRITERIA MINOR CRITERIA Skin hyper extensibility Easy bruising Atrophic scarring Soft, doughty skin Generalised joint hypermobility Skin fragility Molluscoid pseudotumors (G) Subcutaneous spheroids (F) Hernia ( history) Epicanthal folds Complications of joint hypermobility

9. TREATMENT Medications to relief pain and reduce blood pressure Proper and balanced nutrition Physiotherapy to strengthen muscles around weak joints Braces to stabilize joints and minimize dislocations Rarely, surgery to repair joints damaged by repeated dislocations may be performed, if necessary. C osmetic surgeries can correct droopy eyelids. Patients also sometimes undergo a facelift to offset a deficiency of collagen support in the skin.

10. Bruising of skin and permanent scarring Repeated joint dislocations Early-onset arthritis Delayed wound healing Spontaneous rupture of blood vessels Aortic root dilatation Mitral valve regurgitation (blood flowing back into the heart) Progressive loss of motor function COMPLICATIONS WITH EDS

11. You may be advised to avoid some activities entirely, such as heavy lifting and contact sports For some activities, you may need to wear appropriate protection and be taught how to reduce the strain on your joints I f fatigue is a problem, you can be taught ways to conserve your energy and pace your activities Avoiding unnecessary surgical procedures , since wound healing may be compromised L IVING WITH EDS

12. REFRENCES https://www.ehlers-danlos.org/information/classical-ehlers-danlos-syndrome/ https :// rarediseases.info.nih.gov/diseases/6322/ehlers-danlos-syndromes https://rarediseases.info.nih.gov/diseases/2088/classical-ehlers-danlos-syndrome https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3827857/#:~:text=Usually%20classical%20EDS%20results%20from,single%20pro%CE%B12(V)%20chain. https://www.frontiersin.org/articles/10.3389/fcell.2021.649082/full