We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Special Feature |

Picture of the Month FREE

Keith A. Knoell, MD; Walter W. Tunnessen Jr, MD
[+] Author Affiliations

From the Department of Dermatology, University of Virginia Health Sciences Center, Charlottesville (Dr Knoell); and the American Board of Pediatrics, Chapel Hill, NC (Dr Tunnessen).

Section Editor: W. Tunnessen Walter, MD

Arch Pediatr Adolesc Med. 2000;154(1):85. doi:.
Text Size: A A A
Published online

A 7-YEAR-OLD developmentally and neurologically disabled boy developed numerous asymptomatic, flesh-colored papules on the skin of his chest, upper arms, and thighs over a 4-year period. His birth history was unremarkable. The family history was notable for the presence of a severe progressive neurological condition affecting a maternal uncle and a maternal male second cousin.

Findings on physical examination revealed striking dolichocephaly with coarse facial features. The forehead was prominent and the eyes symmetrically proptotic (Figure 1). Findings on oral examination showed an enlarged tongue and mild enamel defects of the teeth. The spleen was not palpable, but the liver edge was palpable 3 cm below the right costal margin. Severe claw-hand deformities were present (Figure 2) as well as a decreased range of motion of the elbows and knees and severe hip flexion contractures. The skin felt thickened and demonstrated hypertrichosis as well as groups of bilaterally symmetrical, firm, nontender, discrete, ivory-colored 0.3- to 0.5-cm-diameter papules over the chest, upper arms (Figure 3), scapulae, and thighs. No corneal clouding was present, but findings from auditory testing revealed a moderate to severe combined sensorineural and conductive hearing deficit.

A biopsy of normal-appearing skin, obtained for enzyme studies, revealed an absence of iduronate sulfatase.

Accepted for publication March 16, 1999.

Corresponding author: Keith A. Knoell, MD, 1928 Powell Creek Ct, Charlottesville, VA 22911.




Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

0 Citations

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles