[Bloch-Sulzberger incontinentia pigmenti with associated neurologic and ophthalmologic complications].
A female infant showing linear skin lesions arranged in an irregular way with bullae, vesicles, and erythema, which had predominantly affected her extremities since her birth, was examined by us at the age of one week. Histologic and immunofluorescence findings confirmed the preliminary diagnosis of incontinentia pigmenti. Electron microscopic investigations were additionally made. In the course of the disease, we observed the characteristic development of a warty and a pigmented stage. The disease was complicated by epileptic seizures, motor disturbances, and ocular defects. EEG, CT, and ultrasound revealed anomalies. Since her mother reports on similar skin lesions during her own childhood, we suspect an X-chromosomal genetic defect.
Petri
H
H
Hautklinik Städt. Kliniken Dortmund, Universitäts-Hautklinik Witten-Herdecke.
Pierchalla
P
P
Tronnier
H
H
D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D012162:Retinal Degeneration / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology
Incontinentia pigmenti Bloch-Sulzberger mit assoziierten neurologischen und ophthalmologischen Komplikationen.