Background
This article discusses what was formerly referred to as incontinentia pigmenti type 2, also known as Bloch-Sulzberger syndrome, a rare, X-linked, dominantly inherited disorder of skin pigmentation that is often associated with ocular, dental, and central nervous system abnormalities. Incontinentia pigmenti refers to the loss of melanin from basal cells in the epidermis; melanin collects in the dermis as free pigment or aggregates of melanophages. Garrod described the first patient in 1906; Sulzberger described the pathologic changes in 1928; and Haber first recognized the multisystem nature of the disease. Happel first recognized that the skin changes occur along the lines of Blaschko in 1985.
Incontinentia pigmenti was previously described as sporadic with linkage to band Xp11.21 and X-linked dominant at locus Xq28; however, the disease with linkage to band Xp11.21 represents what has been referred to as incontinentia pigmenti type 1 or hypomelanosis of Ito.
See also the Medscape Reference Dermatology article Incontinentia Pigmenti.