Landy and Donnai listed criteria for the diagnosis of incontinentia pigmenti (IP, Bloch-Sulzberger syndrome) in a patient with a first degree female relative with IP. The authors are from St. Mary's Hospital in Manchester, England.


Almost all patients to be evaluated will be female since males are often aborted during pregnancy.


Criteria - both of the following:

(1) presence of one or more first degree female relatives with incontinentia pigmenti

(2) one or more of the following:

(2a) evidence of typical rash

(2b) reasonable history of the typical rash

(2c) hyperpigmentation of the skin

(2d) skin scarring

(2e) hairless streaks

(2f) alopecia at vertex (top or crown of the head)

(2g) anomalous dentition (delayed eruption, missing or abnormal teeth)

(2h) woolly hair

(2i) retinal disease

(2j) multiple miscarriages of male fetuses


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