By Gary M. White, MD

Ehlers-Danlos syndrome Courtesy Micheal O. Murphy, MD

Ehlers-Danlos syndrome has been divided into 6 types, the last 3 being very rare.
* Hypermobility (most common, variable defects including tenascin-X and collagen type III) * Classical (defect in collagen type V) * Vascular (most life-threatening, defect in collagen type III) * Kyphoscoliosis (defect in lysyl hydroxylase) * Arthrochalasis (defect in collagen I) * Dermatosparaxis (defect in procollagen I N-terminal peptidase).


Ehlers-Danlos syndrome is a group of disorders whose main abnormalities include hyperextensible and fragile skin and hyperlaxity of the joints. Soft, fleshy papulonodules called molluscoid pseudotumors occur in areas subject to trauma, e.g., the knees, shins, and extensor arms. It has been subdivided into approximately nine different types and for many of these, a specific defect in collagen production has been identified. Other commonly occurring problems of the musculoskeletal system include joint pain, hypermobility and dislocation, muscle cramps, and weakness. The heart (e.g., chest pain, tachycardia, murmur MVP), the eyes (myopia, presbyopia, blue sclera) and the gynecological system (miscarriage, premature rupture of membranes) may also be involved.


Genetic counseling is essential, and specific typing should be attempted. Life expectancy may be diminished. Orthopedic, cardiac, and ObGyn evaluation and followup care is recommended.

Additional Pictures

Molluscoid pseudotumors. Courtesy Micheal O. Murphy, MD
Ehlers-Danlos syndrome


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