hypomelanosis of Ito (incontinentia pigmenti achromians)

Pathology: - two clones of primordial melanocytes with differing pigment potential Genetics: 1) chromosomal mosaicism 2) diploid/triploid mixoploidy Clinical manifestations: 1) cutaneous manifestations - swirls & streaks of hypopigmentation run parallel to one another in a pattern - lesions may progress or regress with time 2) extra-cutaneous manifestations in at least 1/3 of patients a) asymmetric musculoskeletal abnormalities b) central nervous system abnormalities - seizures - mental retardation c) ocular abnormalities - strabismus - hypertelorism

General

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

References

Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 317