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[Neuro-oculo-cutaneous syndrome with multiple sebaceous nevi. Presentation of a case].
The authors present a case of multiple sebaceous naevi associated with severe mental retardation and ocular lesions in a six month-old female. Several elevated yellowish lesions were present in the skin of the face and an extensive atrophic lesion was observed in the scalp. Histopathological examination of the elevated yellowish plaque disclosed hyperplasia of mature sebaceous glands. In the linear lesion it was observed hyperplasia of hypotrophic sebaceous glands. Otherwise in the atrophic lesion of the scalp atrophy of the dermis associated with marked hypoplasia of the skin appendages was observed. The authors believe that the different cutaneous pathological aspects of this syndrome are related to the clinical morphology of the lesions and not to the age of the patient. The ophthalmological examination revealed bilateral optic atrophy, bilateral choristomas of the conjuntiva and a coloboma of the choroid and retina in the right eye. A review of the literature revealed eleven cases of sebaceous naevi associated with neurologic and/or ocular manifestations but only three cases of the neuro-oculo-cutaneous syndrome. The present case probably represents the fourth case of this syndrome in the literature.
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