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Incontinentia Pigmenti

Abstract

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NORD is very grateful to Michelle Yanik, NORD Editorial Intern from the University of Notre Dame, and Angela Scheuerle, MD, Tesserae Genetics, for assistance in the preparation of this report.

Synonyms of Incontinentia Pigmenti

  • Bloch-Siemens incontinentia pigmenti melanoblastosis cutis linearis
  • Bloch-Sulzberger syndrome
  • IP
  • pigmented dermatosis, Siemens-Bloch type

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Incontinentia Pigmenti (IP) is a rare genetic dermatological disorder affecting the skin, hair, teeth, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth. IP is an X-linked dominant genetic disorder caused by mutations in the IKBKG gene.

Introduction
IP was named based on the appearance of the skin under the microscope.

Organizations related to Incontinentia Pigmenti

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