Abstract
Abstract Basal cell naevus syndrome is a rare hereditary autosomal dominant disease. We present the case of a three-year-old boy with the syndrome, associated with a nasal dermoid sinus cyst. Review of the literature revealed only one similar case of this syndrome with a nasal dermoid sinus cyst. PTCH1 , the gene responsible for the disease in this case, is expressed in the neural tube of the developing embryo and mutations can lead to developmental anomalies. This fact combined with the knowledge that nasal dermoid sinus cysts are remains of an ectodermal extension of the dura, explains the association of Basal cell naevus syndrome with a nasal dermoid sinus cyst. We suggest that it should be adopted as a minor diagnostic criterion.
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