The genetics of incontinentia pigmenti

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Abstract
The familial inci-dence of incontinentia pigmenti and its almost exclusive occurrence in females have been explained by 2 theories. One theory (Pfeiffer) suggests that the disease is due to an autosomal, dominant gene, which is sex-limited in its expression, producing the defect only in females. The other theory (Lenz) suggests that incontinentia pigmenti is due to a sex-linked gene carried on the X-chromosome. This gene acts as a dominant in females and is lethal in males. The pros and cons of each theory are discussed. The Franceschetti-Jadassohn type of incontinentia pigmenti is clinically and genetically different from the classic type. A 3rd of "transitional" cases occurs in boys and girls. Its genetic mechanism has not yet been determined.

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