Incontinentia pigmenti (Bloch-Sulzberger syndrome): seven case reports from one family.
Seven members from a large family who showed signs of incontinentia pigmenti were examined. A clear X-linked dominant transmission was demonstrated, lethal in males. Study of this family shows that vascular abnormalities of the retina and disorders of the retinal pigment epithelium are the most important ocular lesions in the Bloch-Sulzberger syndrome.
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005123:Eye / Q000473:pathology; D005124:Eye Abnormalities; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*