Customize your JAMA Network experience by selecting one or more topics from the list below.
Copyright 2006 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2006
A 9-year-old African American girl was seen in the dermatology clinic for evaluation of a lifelong history of easy bruising and scarring of the skin. She had an unremarkable medical history except for hypertension. On further discussion, she also had a history of increased flexibility of her joints but no history of joint dislocations, cardiac abnormalities, or ocular problems. There was no family history of any similar medical conditions. On examination, she was a healthy, developmentally appropriate girl. She had velvety, hyperextensible skin as well as atrophic scarring on the forehead, shins, and elbows (Figure 1 and Figure 2). There was also joint hypermobility, particularly of her fingers, and she had a positive Gorlin sign (Figure 3 and Figure 4). She was not noted to have hypotonia, scoliosis, atypical facial features, or body habitus. Ophthalmologic evaluation, echocardiography, and abdominal ultrasonography results were all normal.
Large atrophic scars on bilateral shins.
Hyperextensibility of skin on elbow.
Joint hypermobility of index finger.
Positive Gorlin sign (tongue touching nose).
What is your diagnosis?
Horii KA, Nopper AJ, Sharma V. Picture of the Month—Quiz Case. Arch Pediatr Adolesc Med. 2006;160(7):705–706. doi:10.1001/archpedi.160.7.705-a