Retinoblastoma in Bloch-Sulzberger Syndrome

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Abstract
A case of Bloch-Sulzberger syndrome [primary dermal incontinentia pigmenti] with retinoblastoma is described in an infant. This would appear to be the 1st report of such an association. This syndrome is associated ophthalmologically with various changes particularly retinal disturbances of dysplastic and detachment types. However, pigmentary changes of the retinal pigment epithelium have also been reported. It is generally agreed that the Bloch-Sulzberger syndrome occurring predominantly in females is a familial disease, genetically dominant with variable penetrance. A maternal viral infection has been inculpated. The congenital aspect, the manifestation of a bullous rash and the occasional report of metastatic ophthalmia, could correlate with a viral component.

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