Joint Hypermotility Syndrome

Ehlers-Danlos syndrome is a group of rare genetic disorders of collagen characterized by skin hyperextensibility, joint hypermobility and tissue fragility. The authors describe a rare case of a 52-year-old woman that presented to the clinic with chronic joint pain and talipes equinovarum since childhood. Large eyes, sunken cheeks, thin nose and lobeless ears were noticed on clinical examination. Beighton joint hypermotility criteria were met with a positive Walker and Steinberg sign, elbow extension superior to 10° and knee extension in genu recurvatum more than 10°...

Objectives: EDS-4 comprises ∼4% of all EDS, involving mutations in type III procollagen rather than type V. It causes spontaneous vascular and visceral rupture but not large joint or skin hypermotility. Nutritional deficiencies and malabsorption have been described in classical EDS, but not in EDS-4. Methods: A 30-year-old female with EDS-4, bowel obstruction, spontaneous colon rupture, spontaneous pneumothorax and cholecystitis had fatigue, diarrhea, abdominal pain, hair loss and dry skin...

Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. A vascular Ehlers Danlos Syndrome was suspected. However, the genetic study to confirm the diagnosis was not done.

Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome...

Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and blindness. Additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis place BCS among the connective-tissue disorders. Previously, we assigned the disease gene to a 4.7 Mb interval on chromosome 16q24. In order to clone the BCS gene, we first narrowed the disease locus to a 2.8 Mb interval and systematically sequenced genes expressed in connective tissue in this chromosomal segment...

Joint hypermotility syndrome (JHMS) was studied in 304 patients (255 women, 49 men, age 16-50 years) divided by age into four groups (16-20, 21-30, 31-40, 41-50). It was found that the incidence rate of such symptoms as polyarthralgia, recurrent exudates and incomplete joint dislocations with age lowers while that of dorsalgia, oligoarthralgia, soft tissue rheumatic syndromes, fibromyalgia rises. A monosymptom variant was characteristic for patients of the age 16-20 years. It manifested with one of the above symptoms (polyarthralgia, dorsalgia, recurrent exudates and incomplete joint dislocations)...

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Articular and extraarticular manifestations of AHS were studied in 114 AHS patients. Locomotor complaints were getting more frequent and serious with progression of AHS. Rheumatoid arthritis arising in the presence of hypermotility was characterized by minor symptoms and destructive changes and was not very active. Functional performance of the joints was not much affected. Osteoarthrosis in AHS presence ran with more pronounced symptoms, with early emergence of degenerative changes in the joints, primarily, of the lower limbs...