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 ......
Article |

Niemann-Pick Disease: Report of a Case With Skin Involvement

Am J Dis Child. 1982;136(7):650-651. doi:10.1001/archpedi.1982.03970430082029.
Text Size: A A A
Published online

Niemann-Pick disease is a type of congenital lipidosis bearing a wide spectrum of clinical symptoms. We report the case of a 10-month-old female infant with Niemann-Pick disease who was found to have a unique skin lesion, involving both cheeks. Histological examination showed a large number of foamy histiocytes in the dermis resembling Niemann-Pick cells; electron microscopy showed these cells to contain a large number of whorled cytoplasmic structures, typically seen in this disease. We believe this is the first time that unequivocal involvement of the skin by Niemann-Pick disease has been demonstrated.

Report of a Case.—A 10-month-old girl had abdominal swelling, dyspnea, and weight loss at 6 months of age. When she was examined three months later at a local hospital, a heart murmur, hepatosplenomegaly, and a duplicated right kidney were found. The parents are first cousins. A male sibling died following respiratory tract infection at 2 years of


Sign in

Purchase Options

• Buy this article
• Subscribe to the journal

First Page Preview

View Large
First page PDF preview





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.
Submit a Comment


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

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal

Related Content

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