hypomelanosis of Ito (incontinentia pigmenti achromians)

Pathology

• two clones of primordial melanocytes with differing pigment potential

Genetics

• chromosomal mosaicism
• diploid/triploid mixoploidy

Clinical manifestations

• cutaneous manifestations
  • swirls & streaks of hypopigmentation run parallel to one another in a pattern
  • lesions may progress or regress with time
• extra-cutaneous manifestations in at least 1/3 of patients
  • asymmetric musculoskeletal abnormalities
  • central nervous system abnormalities
    • seizures
    • mental retardation
  • ocular abnormalities
    • strabismus
    • hypertelorism

More general terms

• pigmentation disorder
• genetic disease of the skin (genodermatosis)
• genetic syndrome (multisystem disorder)

Additional terms

• incontinentia pigmenti; Bloch-Sulzberger syndrome; familial incontinentia pigmenti type II