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Incontinentia pigmenti

Disease definition

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

ORPHA:464

  • Synonym(s):
    • Bloch-Siemens syndrome
    • Bloch-Sulzberger syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Neonatal
  • ICD-10: Q82.3
  • OMIM: 308300
  • UMLS: -
  • MeSH: D007184
  • GARD: 6778
  • MedDRA: -

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