Clinical consternation occurs when characteristic vesiculobullous eruptions of incontinentia pigmenti (IP) appear neonatally. These distressing lesions almost never lead to serious long-term morbidity, although they often result in time-consuming, expensive, and typically fruitless diagnostic evaluations in an attempt to diagnose other diseases.
Blindness and psychomotor retardation, on the other hand, constitute the most serious acute and chronic complications of this disease1- 24 (Figure 1). When they occur, they are tragedies for the patients as well as for their families. Ideally, therefore, these complications should be sought assiduously and, if possible, treated quickly, as soon as the diagnosis of IP is established. Because babies obviously cannot complain of reduced vision or of impaired cerebral function, a high index of suspicion by attending clinicians is warranted. Urgent consultations with ophthalmic and neurologic subspecialists (specifically, retinologists and pediatric neurologists) are often needed, both for diagnosis and treatment. Fortunately, not all patients have blinding or retarding symptoms owing to the variable clinical expression of this disease.
A, Infant with incontinentia pigmenti, showing marked pallor of optic nerve head (optic atrophy). There was profound and permanent loss of vision. B, An infant aged 12 days with incontinentia pigmenti and occlusion of central retinal artery, demonstrating macular cherry-red spot (black dot), cotton-wool ischemic infarcts (arrowheads), numerous occluded retinal blood vessels (solid arrow), and zones of nonperfusion (open arrow). Vision was permanently reduced to perception of gross movements. C, An infant aged 20 months with incontinentia pigmenti and extensive zones of retinal nonperfusion (black dots), hard exudates, and a large arteriovenous shunt (arrowhead). There was severe and permanent loss of vision. D, A child aged 27 months with incontinentia pigmenti and inoperable tractional retinal detachment of the macula. There was profound and permanent loss of vision.
Thank you for submitting a comment on this article. It will be reviewed by JAMA Dermatology editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 11
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.