Skin Biopsy 

Misconception

Currently, the diagnosis of only a few types of EDS can be confirmed using the practical laboratory studies available. A prevailing misconception is that specific skin biopsy findings can confirm or exclude the specific diagnosis of EDS. No specific histopathologic skin biopsy findings identify patients with EDS; therefore, skin biopsies should not be performed to confirm or exclude the diagnosis. A skin biopsy may be indicated to obtain cultured skin fibroblasts for specific biochemical and molecular studies, but most clinicians primarily rely on their knowledge and clinical diagnostic ability.

Wrong

Diagnosis:

Most EDSers have traveled along the same long journey where it seems as if nobody knows what is really wrong with them. Many receive diagnoses of osteoarthritis, fibromyalgia, lupus, rheumatoid arthritis, rheumatic fever, multiple sclerosis, "growing pains," it's all in your head," and many more. Unfortunately, most EDSers receive several misdiagnoses before finally being correctly diagnosed with EDS.  

Signs and Symptoms of EDS

MUSCULOSKELETAL

• Highly flexible fingers and toes. Some EDSers' hands collapse from the pressure of a simple handshake. It is difficult to write, and often finger splints help a great deal. Some even develop swan neck deformity or boutonniere deformity of the fingers
  
• Loose, unstable joints that are prone to sprains, dislocations, subluxations (partial dislocations), hyperextension (double jointedness). Hypermobile joints cause pain, and sometimes the "cracking" or "popping" of them feels like it relieves the pressure. 
  
• Tearing of tendons or muscles
  
• Fibromyalgia symptoms: Myalgia (muscle pain) and arthralgia (joint pain) 
  
• Nerve compression disorders (carpal tunnel syndrome, acroparethesia, neuropathy)
  
• Thoracic Outlet Syndrome
  
• Fluid effusions into the knees, ankles and elbows, primarily in Classical or Kyphoscoliosis types. Effusion is the escape of fluid from the blood vessels or lymphatics into the tissues or a cavity.
  
• Early onset of osteoarthriits. EDSers can develop osteoarthritis earlier than typical, and they often have difficulty or pain walking. They can appear clumsy. 
• Chronic degenerative joint disease 
  
• Low muscle tone and muscle weakness
  
• Cervical (neck) instability occurs in some types, and some people may have trouble holding up their head.
  
• ​In the kyphoscoliosis type, many infants have severe muscle hypotonia (floppy babies), generalized joint laxity and scoliosis at birth, or develop a progressive scoliosis within their first year of life.
  
• Flat feet. 'Pes planus' or being flatfooted is common and feet can flatten even more as one ages.
  
• Deformities of the spine, such as: Scoliosis (curvature of the spine), Kyphosis (a thoracic hump), Tethered spinal cord syndrome, Occipitoatlantoaxial hypermobility, Arnold-Chiari malformation (the brain tonsils protrude down through the forum at the base of the brain).
  
• Trendelenburg's sign
  
• Osgood-Schlatter Disease
  
• Infants with hypermobile joints often appear to have weak muscle tone (hypotonia), which can delay the development of motor skills such as sitting, standing, and walking
  

​SKIN​

• Fragile skin that tears easily
• Easy bruising, delayed wound healing, differing types of scarring.
  
• Fragile blood vessels resulting from cystic medial necrosis with tendency towards aneurysm (even abdominal aortic aneurysm)
  
• Soft, velvety-smooth skin which may be stretchy
  
• Trouble with suturing soft inner tissues. Surgical incisions may present problems with healing. Stitching EDS skin is sometimes described as "like sewing butter."
  
• Molluscoid pseudotumors, especially on pressure points
• Subcutaneous spheroids

CARDIOVASCULAR

• Arterial/intestinal/uterine fragility or rupture
  
• Low body temperature. Trouble controlling their body temperatures when exposed to heat or cold.
  
• Blood pressure problems. Dilated aortic roots, incompetent heart valves, and autonomic dystonia or POTS (a syndrome where the patient experiences wide and serious blood pressure swings with position changes). 
  
• Valvular heart disease. Mitral Valve Prolapse (MVP) is common amongst EDSers. MVP creates an increased risk for infective endocarditis during surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse.
  
• Vascular skin conditions: Raynaud's Phenomenon, Livedo reticularis 
  
• Osteopenia (low bone density).
  
• High and narrow palate, resulting in dental crowding
  
• Functional bowel disorders (functional gastritis, irritable bowel syndrome)
  
• Platelet aggregation failure (platelets do not clump together properly)
  

OTHER MANIFESTATIONS AND COMPLICATIONS

• Otosclerosis (hearing loss)
  
• Premature rupture of membranes during pregnancy
• Myopia (near-sightedness), astigmatism, and early presbyopia (a vision condition in which the crystalline lens of your eye loses its flexibility, making it difficult to focus on close objects).
  
• Dry eyes
  
• Retinal detachment and ectopia.
• TMJ (tempomandibular joint) pain and clicking occur in about 30% of the general population, and about the same incidence occurs in EDSers. 
  
• Juvenile periodontal disease. All EDSers are cavity prone, and have increased bleeding from anywhere in the oral cavity due to the fragility of tissues. Braces can cause problems as they can damage the gyms and tongue while moving teeth quickly.
  
• Poor balance, severe headaches including migraines. 
  
•  Hiatial hernia
  
• Anal prolapse
  
• Collapsed lung (pneumothorax)
  
• Insensitivity to local anesthetics.
  
• Sleep apnea