INCONTINENTIA PIGMENTI IN AN INFANT BOY

Bloch-Sulzberger incontinentia pigmenti (IP) is a rare X-linked neuroe ctodermal syndrome. Over 97% of the patients are female. We report on a male baby who developed blisters in linear groups or bands shortly a fter birth. When the child was 3 months old the blisters were followed by verrucous papules, which cleared after 1 year leaving areas of bro wnish grey hyperpigmentation. In addition to the skin involvement, our Patient showed central motor dysfunction on the right side of the bod y and also dental and ocular anomalies. Both parents were in good heal th. Chromosome analysis yielded a normal karyotype (46, XY). The genes for coagulation factor VIII and biglycan in the Xq28 region were not deleted. The presence of the disease in this male infant may be due to an early somatic mutation or a half-chromatid mutation. A further pos sibility is mosaic expression of an unstable premutation. This model o ffers a good explanation for the reports in the literature of transmis sion of the disease from mother to son.