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 12 h 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 1/4 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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bloch, B.: Eigentümliche bisher nicht beschriebene Pigmentaffektion (Incontinentia pigmenti). Schweiz. Med. Wschr. 56, 404–405 (1926)
Carney, R. G.: Incontinentia pigmenti. A report of five cases and review of the literature. Arch. Derm. Syph. (Chic.) 64, 126–135 (1951)
Cole, J. G., Cole, H. G.: Incontinentia pigmenti associated with changes in the posterior chamber of the eye. Am. J. Ophthalmol. 47, 321–328 (1959)
Ebling, F. I. G., Rook, A.: Disorders of Skin Colour. In: Rook, A., Wilkinson, D. S., and Ebling, F. I. G. (eds.), Textbook of Dermatology, Vol. 2, pp. 1255–1258. Oxford: Blackwell 1972
Epstein, E., Vedder, J. S., Pinkus, H.: Bullous Variety of Incontinentia Pigmenti. Arch. Derm. Syph. (Chic.) 65, 557–567 (1952)
Garrod, A. E.: Peculiar pigmentation of the skin in an infant. Trans. Clin. Soc. London 39, 216 (1906)
Hauw, J.-J., Perié, G., Bonette, J., Escourelle, R.: Les lésions cerebrales de l'incontinentia pigmenti. Acta neuropath. (Berl.) 38, 159–162 (1977)
Ito, M.: Incontinentia pigmenti achromians. A singular case of naevus depigmentosous systematicus bilateralis. Tohoku J. exp. Med. Suppl. 55, 57–59 (1952)
Kauste, O., Paatela, M.: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome): Report of Two Cases. Ann. Paediat. Fenn. 7, 79–84 (1961)
Kellner, R., Külz, J.: Incontinentia pigmenti Bloch-Sulzberger. Kinderärztl. Praxis 35, 209–216 (1967)
Lenz, W.: Zur Genetik der Incontinentia pigmenti. Ann. Paediat. 196, 149–165 (1961)
Link, K., Schleussing, H.: Allergie und Encephalitis. In: Scholz, W. (ed.), Handbuch der Speziellen Pathologischen Anatomie und Histologie, Band 13/2A, pp. 166–167. Berlin-Göttingen-Heidelberg: Springer 1958
Lowenthal, A.: Agar Gel Electrophoresis in Neurology. Amsterdam-New York: Elsevier 1964
McKusik, V. M.: Mendelian Inheritance in Man, ed. 4, p. 635. Baltimore: John Hopkins Press 1975
McPherson, A., Auth, T. L.: Bloch-Sulzberger Syndrome (Incontinentia Pigmenti): Report of a Case With Prominent Neurological Features. Arch. Neurol. (Chic.) 8, 116–123 (1963)
Martyn, L. J.: Pediatric Neuro-Ophthalmology. In: Harley, D. R. (ed.), Pediatric Ophthalmology, pp. 512–514. Philadelphia-London-Toronto: Saunders 1975
Mendelsohn, R. S., Medansky, R. S., Latar, P.: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome): A Generalized Disease. Am. J. Dis. Child. 97, 348–352 (1959)
Morgan, J. D.: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome). A Report of Four Additional Cases. Am. J. Dis. Child. 122, 294–300 (1971)
O'Doherty, N. J., Norman, R. M.: Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) with Cerebral Malformation. Dev. Med. Child. Neurol. 10, 168–174 (1968)
O'Doherty, N.: Bloch-Sulzberger Syndrome. In: Vinken, P. J. and Bryn, G. W. (eds), Handbook of Clinical Neurology, Vol. 14, The Phakomatoses, pp. 213–222. Amsterdam-Oxford; Elsevier 1975
Pallisgaard, G.: Incontinentia pigmenti in a newborn boy. Acta Derm. Venerol. (Stockh.) 49, 197–201 (1969)
Palmgren, B.: The Relationship of Dermatitis Herpetiformis to Incontinentia Pigmenti in Newborn Infants. Pediatrics 29, 295–302 (1962)
Pfeiffer, R. A.: Das Syndrom der Incontinentia pigmenti (Bloch-Siemens). Münch. Med. Wschr. 101, 2312–2316 (1959)
Pfeiffer, R. A., Happle, R., Stupperich, G.: Das Syndrom von ITO (Incontinentia pigmenti achromians). Klin. Pädiat. 188, 181–185 (1976)
Recondo, J. De, Haguenau, M.: Neuropathologic Survey of the Phakomatoses and Allied Disorders. In: Vinken, P. J. and Bryn, G. (eds.), Handbook of Clinical Neurology, Vol. 14, The Phakomatoses, pp. 213–222. Amsterdam-Oxford: Elsevier 1975
Siemes, H., Siegert, M., Rating, D.: Das Liquorproteinprofil normaler Kinder und seine Abhängigkeit vom Lebensalter. Neuropädiatrie 6, 383–397 (1975)
Sulzberger, M. B.: Über eine bisher nicht beschriebene congenitale Pigmentanomalie (Incontinentia pigmenti). Arch. Derm. Syph. (Berl.) 154, 19–32 (1928)
Übel, H., Ludwig, A., Korting, G.: Zur Kenntnis der Incontinentia Pigmenti. Arch. Derm. Syph. (Berl.) 190, 114–124 (1950)
Undeutsch, U., Undeutsch, W., Scheid, P.: Die Incontinentia pigmenti als Leitsymptom eines Komplexes multipler Abartung. Zeitschr. Kinderheilk. 74, 484–506 (1954)
Wong, C. K., Guerrier, C. J., MacMillan, D. C., Vickers, H. R.: An Electron Microscopical Study of Bloch-Sulzberger Syndrome (Incontinentia pigmenti). Acta Derm. Venerol. (Stockh.) 51, 161–178 (1971)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Siemes, H., Schneider, H., Dening, D. et al. Encephalitis in two members of a family with Incontinentia pigmenti (Bloch-Sulzberger syndrome). Eur J Pediatr 129, 103–115 (1978). https://doi.org/10.1007/BF00442370
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00442370