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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

A case of incontinentia pigmenti associated with multiorgan abnormalities

Woon-Kyong Chung1, Deok-Woo Lee, Sung-Eun Chang

  • 1Department of Dermatology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

Annals of Dermatology
|June 16, 2010
PubMed

Insights

Incontinentia pigmenti is a rare genetic disorder affecting multiple body systems. This case highlights its complex presentation and the need for comprehensive, multidisciplinary care.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Incontinentia pigmenti (IP) is a rare X-linked dominant disorder.
  • IP affects ectodermal structures, including skin, teeth, hair, nails, and the central nervous system.

Observation:

  • A case study of an 11-month-old female infant with Incontinentia pigmenti is presented.
  • The patient exhibited a complex constellation of symptoms including a ventricular septal defect, left hemiatrophy, hemangiomas, abnormal labial frenum, and spastic cerebral palsy (left hemiplegia and developmental delay).

Findings:

  • The patient's presentation underscores the multisystemic nature of Incontinentia pigmenti.
  • Specific findings included cardiac, neurological, and developmental abnormalities alongside characteristic skin and oral manifestations.

Implications:

  • This case emphasizes the critical need for a multidisciplinary approach in managing patients with Incontinentia pigmenti.
  • Early recognition and coordinated care are essential for addressing the diverse clinical manifestations and improving patient outcomes.

Keywords:
GenodermatosisIncontinentia pigmentiSystemic disorder

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