Bloch-Sulzberger Syndrome (Incontinentia Pigmenti)

Abstract. The Bloch-Sulzberger syndrome of Incontinentia pigmenti (I. p.) was observed in 3 generations of one family. The grandmother and mother of 3 sisters with I.p. showed solely the typical skin lesions and no associated ectodermal abnormalities.At the age of 2 years the eldest girl with I.p. suffered from encephalitis after vaccination against smallpox. Four months later, having fully recovered, the patient suddenly deteriorated and developed generalized seizures and signs of increased intracranial pressure. She died 12h after right temporal decompression. Neuropathological examination of the brain revealed acute hemorrhagic encephalopathy involving predominantly the white matter and leading to massive edema. In addition, there were residual signs of a perivenous encephalitis in the central and subcortical white matter of the forebrain. Signs of malformation or developmental abnormalities were absent.The second girl with I.p. experienced an afebrile convulsion 3 weeks after the first injection of diphtheria and tetanus toxoid. At the age of 2~4 years, one week after an upper respiratory tract infection, she developed an encephalitis which resulted in severe neurological sequelae.The third girl with I. p. suffered from an afebrile convulsion without proof of encephalitis at the age of 4 months.The pathogenesis of the CNS disorders which are frequently associated with I. p. is not yet known, but the history of neurologic lesions in this family suggests that inflammatory processes may play an important role in their evolution.

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Neuropathological study of incontinentia pigmenti

Hauw

Périé

Bonnette

et al. 1977

Acta Neuropathol

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Report of a case of Incontinentia pigmenti (IP) of the Bloch-Sulzberger type, with neurological features, in a 3 month-old deceased infant. The neuropathological examination revealed signs of a destructive process which had occurred in the perinatal period: ulegyria, cavities of white matter and patchy scar softening of the cerebellar cortex. In addition, there was a diffuse inflammatory process involving the pia-arachnoid and brain tissue: perivascular cuffs of lymphocytes, histiocytes and eosinophilic polymorphs, and mononuclear nodules. No prenatal malformations or vascular lesions were found. These findings are discussed in the light of both the relevant literature on neurological abnormalities in IP and the only already reported neuropathological examination by O'Doherty and Norman (1968). Two main hypotheses might account for the frequency of neurological disturbances in IP, 1. a peculiar sensitivity of the brain to anoxia and/or ischemia: 2. its involvement by the specific inflammatory process which occurs both in the skin as other tissues in this genetically determined disease (Perié et al., 1976).

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Bloch-Sulzberger Syndrome (Incontinentia Pigmenti)

Cited by 16 publications

References 12 publications

Genetik der mit Pigmentstörungen einhergehenden Dermatosen

Genetik der mit Pigmentstörungen einhergehenden Dermatosen

Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome)

Neuropathological study of incontinentia pigmenti

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