ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (53)
Incontinentia pigmenti in Child
Print
Other Resources UpToDate PubMed

Incontinentia pigmenti in Child

Print Images (53)
Contributors: Mehdi Rashighi MD, Belinda Tan MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Incontinentia pigmenti (IP), or Bloch-Sulzberger syndrome, is an X-linked dominant disease mainly of females that is lethal in males, caused by a mutation in the IKBKG gene. The disease is noticed at birth or within the first few weeks of life. The disease typically progresses through 4 stages: vesicular, verrucous, hyperpigmentation, and hypopigmentation / atrophy. Most cases are associated with developmental abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system. Intellectual disability and epilepsy can be associated. Ocular findings, if present, include both retinal and nonretinal abnormalities, usually related to vascular occlusion.

For more information, see OMIM.

Codes

ICD10CM:
Q82.3 – Incontinentia pigmenti

SNOMEDCT:
367520004 – Incontinentia pigmenti syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 01/16/2018
Last Updated: 10/01/2018
Copyright © 2019 VisualDx®. All rights reserved.
Incontinentia pigmenti in Child
Print 53 Images Filter Images
View all Images (53)
(with subscription)
 Reset
Incontinentia pigmenti (Stage 1) : Linear configuration, Vesicles, Erythematous plaques
Clinical image of Incontinentia pigmenti
Copyright © 2019 VisualDx®. All rights reserved.