A 20-year-old man comes to the office for a follow-up after a recent shoulder dislocation. He has had multiple joint dislocations since childhood, including both shoulder joints. The patient also notes easy bruising and poor wound healing, even with small cuts. Height is 176 cm and weight is 70 kg. Blood pressure is 122/73 mm Hg and pulse is 78/min and regular. On physical examination, several wide, atrophic scars are present on the upper extremities. Echocardiogram shows normal aortic root size, normal left ventricular function, and no significant valvular abnormalities. Which of the following is the most likely diagnosis?

Question

A 20-year-old man comes to the office for a follow-up after a recent shoulder dislocation.  He has had multiple joint dislocations since childhood, including both shoulder joints.  The patient also notes easy bruising and poor wound healing, even with small cuts.  Height is 176 cm and weight is 70 kg.  Blood pressure is 122/73 mm Hg and pulse is 78/min and regular.  On physical examination, several wide, atrophic scars are present on the upper extremities.  Echocardiogram shows normal aortic root size, normal left ventricular function, and no significant valvular abnormalities.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

Explanation: 11ec25c8_d871_3f13_bc81_0f389c8e9e60_MD0003_00 This patient with multiple joint dislocations, easy bruising, poor wound healing, and wide, atrophic scars likely has Ehlers-Danlos syndrome (EDS), a collection of genetic disorders marked by impaired synthesis or processing of connective tissue (eg, collagen, extracellular matrix). Although manifestations vary depending on the genetic mutation, most cases are marked by ≥1 of the following: Joint hypermobility/laxity, which may result in multiple joint dislocations Skin hyperextensibility, which allows skin to stretch ≥4 cm Tissue fragility, which leads to easy bruising and spontaneous organ rupture Poor wound healing, which leads to the formation of wide, atrophic scars ("cigarette paper-like") Confirmation of EDS generally requires referral to a clinical geneticist for genetic testing (eg, COL5A1, COL5A2 mutation). (Choice A) Achondroplasia is an autosomal dominant disorder caused by mutations to fibroblast growth factor receptor 3, which leads to short stature (<120 cm), long bone shortening, and macrocephaly. Patients with achondroplasia sometimes have joint laxity and dislocations, but atrophic scars are atypical. Furthermore, this patient does not have short stature, making achondroplasia unlikely. (Choice C) Klinefelter syndrome is seen in males with an extra X chromosome. It usually results in primary hypogonadism (eg, small testes, severely low sperm count, infertility, lessened virilization), not joint dislocations and atrophic scars. (Choice D) Marfan syndrome is an autosomal dominant disorder caused by mutations to the fibrillin 1 gene, which results in connective tissue defects. Although patients frequently have joint laxity, most also have excessive long bone growth (leading to tall height) and aortic root disease (eg, dilation, aortic regurgitation, dissection). This patient's height, transthoracic echocardiogram with no aortic root disease, and atrophic scars make EDS more likely. (Choice E) Osteogenesis imperfecta is a genetic disorder of type I collagen, which leads to bone fractures with minimal trauma. Repeated joint dislocation would be atypical. Educational objective: Ehlers-Danlos syndrome is a collection of genetic connective tissue disorders. It is usually characterized by joint hypermobility/laxity, multiple joint dislocations, tissue fragility, poor wound healing, and cigarette, paper-like scarring.

A 20-Year-Old Man Comes to the Office for a Follow-Up