EDS symptoms are diverse, which can lead to a large variety of clinical presentations. Some are rare or misattributed to other conditions, it is important to look at the whole picture.
Common Clinical Presentations
Joint Hypermobility: Joints that bend beyond the normal range. Hypermobility is different than flexibility, a lot of patients will need this explained.
Skin Hyperextensibility: Stretchy, soft, or velvety skin that may bruise easily. EDS patients can look unusually young.
Atrophic Scarring: Thin, papery scars that can be wide and delicate to touch.
Chronic Joint Pain: Persistent pain due to joint instability and frequent dislocations or subluxations.
Frequent Dislocations and Subluxations: Joints easily pop in and out of place.
Easy Bruising: Fragile blood vessels leading to frequent bruising with minimal trauma.
Fatigue: Chronic exhaustion, often exacerbated by joint and muscle pain.
Gastrointestinal Dysmotility: Issues like gastroparesis, constipation, and GERD.
Joints With Less Mobility or Fibrosis: With age hypermobile joints can become so damaged and full of fibrosis or scar tissue they have less range of motion than the average person, making diagnosis harder in older people.
Uncommon or Less Recognized Presentations
Arachnodactyly (Extra Long Fingers): Slender, elongated fingers often seen in connective tissue disorders.
High, Narrow Palate: A high-arched or narrow roof of the mouth, which can impact dental alignment.
Large Tonsils or Adenoids: Enlarged tissues that can lead to obstructive sleep issues.
Hoarse or Scratchy Voice: Laryngeal laxity or vocal cord weakness leading to a soft or raspy voice.
Easy Teeth Displacement: Loose teeth, frequent need for orthodontic interventions due to weak periodontal tissue.
Varicose Veins at Young Age: Abnormally visible or protruding veins, particularly in the legs.
Thin, Translucent Skin: Especially common in vascular EDS, where skin is so thin veins are visible underneath.
Cigarette-Paper Scars: Wrinkly, fragile scars resembling cigarette paper.
Protruding Eyes (Exophthalmos): Slight prominence of the eyes due to reduced connective tissue support.
Weakened Diaphragm: Leading to shortness of breath, even at rest or during light exertion.
Early-Onset Hernias: Inguinal, umbilical, or incisional hernias due to weak connective tissues.
Dental Crowding and Frequent Cavities: High rate of orthodontic issues and weak enamel.
Proprioception Issues: Poor balance, coordination, and body awareness.
Stretch Marks (Striae Distensae): Even without significant weight gain or loss.
Flat Feet and Bunions: Due to lack of structural support in the foot joints.
Rare or Very Unusual Presentations
Blue Sclera (Bluish Tint to Whites of Eyes): Seen in some EDS types due to thin sclera.
Collapsed Arches and Overlapping Toes: More severe foot deformities due to joint laxity.
Large, Painful Lipomas: Fatty tumors, often painful, seen in conditions overlapping with Dercum's disease.
Tonsil Hypertrophy with Sleep Apnea: Very large tonsils that cause obstructed breathing during sleep.
Piezogenic Papules: Small, painless or painful bumps on the heels or arches from fat tissue herniation.
Excessive Stretching of the Skin on Extremities Only: Unusual pattern of skin hyperextensibility, more noticeable on certain body areas.
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