Incontinentia pigmenti:: clinical and neuroimaging findings in a series of 12 patients

Objective. To describe the clinical, neuroimaging with magnetic resonance imaging (MRI) and evolutive findings in 12 patients with incontinentia pigmenti (IP). Five patients show cutaneous and neurological lesions and seven only show cutaneous lesions without neurologic or/ and ophthalmologic abnormalities. Material and methods. Five mothers and seven daughters from four families-were studied and followed between 1965 and 2004. The studies consisted of detailed clinical history since birth, physical examination, family history, EEG recordings and MRI studies. In some patients, at least three MRI studies were performed during our follow-up. All patients were followed-up since their first visit until 2004. Including four patients since birth or early infancy. Skin biopsies were obtained from two infants for histological study. Results. MRI studies revealed brain abnormalities in five girls who had neurologic signs associated with the cutaneous lesions of IP. Brain lesions were bilateral in four and unilateral in one. Cerebellar changes were observed only in one case who also showed severe cerebral lesions. The lesions involved cortex, subcortical and deep white matter, ependymal and subependymal zones of one or both cerebral hemispheres. Lesions usually were localized and extended radially to involve all the cerebral parenchyma between ependyma and cortex. Affected areas did not correspond to territories vascularized by any determined artery. The corpus callosum showed generalized or localized atrophy in the five patients who had cerebral hemispheric lesions. Although parenchymal changes were seen in both the T-1 and T-2 weighted images, these were most evident in the latter. Parenchymal abnormalities were most severe in patients with neonatal severe cutaneous lesions, especially if these were located in the scalp. Cerebral lesions were present from birth or the first months of life and changed little thereafter. The acute appearance and distribution of cerebral lesions always during the neonatal period, associated with scalp lesions in stage 1, suggest an acute inflammatory origin of unknown etiology and of nonprogressive course. Ocular lesions were directly related with cerebral abnormalities. Patients who only had cutaneous lesions without neurologic symptoms showed no MRI abnormalities. Conclusions. Neuroimaging studies reveals brain lesions only in patients with neurologic disease in this serie. The brain lesions may involve one or both cerebral hemispheres, corpus callosum, and cerebellum. The brain lesions correlate with the neonatal scalp lesions in stage 1, suggests an inflammatory process of unknown etiology and non-progressive course. The appearance and distribution of the cerebral lesions do not follow the territories vascularized by specific arteries. Ocular lesions are observed only in patients with severe cerebral changes. Early onset of cerebral lesions may be the most reasonable explanation for the progressive microcephaly within the first year of life in IP.