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Musculoskeletal upper gastrointestinal bleeding and rectal prolapse

upper gastrointestinal bleeding and rectal prolapse

Ehlers-Danlos SyndromeEhlers-Danlos Syndrome

These are the hand and skin findings of a 26-year-old woman who complains of early satiety. Her past medical history is notable for upper gastrointestinal bleeding and rectal prolapse. What is the diagnosis?


a. Ehlers-Danlos syndrome
b. Cutis laxa
c. Osteogenesis imperfecta
d. Congenital contractural arachnodactyly
e. Marfan syndrome

 


Ehlers-Danlos Syndrome

Answer: a
• Ehlers-Danlos syndrome is characterized by highly elastic connective tissue
• Many forms (up to 15) of Ehlers-Danlos syndrome exist
• The autosomal-dominant forms of the disease account for 90% of reported cases
• Patients have hyperextensible and lax joints that are prone to dislocation
• Patients with skin manifestations have hyperextensible, fragile skin that heals poorly, characteristically forming wide, thin, “fish-mouth” scars. The skin may have a velvety texture
• Patients are predisposed to the following:


Gastrointestinal motility disorders
Visceral diverticulosis
Mitral valve prolapse (up to 50% of patients)
Dilatation of the aortic root
Pes planus
Scoliosis
Degenerative arthritis
Pneumothorax
Dilatation of the pulmonary artery
Angina


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