The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal c...The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal cell, odontogenic cysts and skeletal abnormalities. Skin lesions are a very frequent reason for consultation in the paediatric age, being evaluated in most cases in primary care. Sometimes, patients need the intervention of other specialists to deep in a given area. The medical literature shows a fragmented view of the disease, possibly related to the low frequency of appearance of this syndrome, and by the need for intervention of not transversal knowledge specialist, which is why we feel interesting to evaluate the role of specialist who is developing the activity at primary care, with patients who require a multidisciplinary intervention.展开更多
文摘The nevoid basal cell carcinoma syndrome is an autosomal dominant inherited disease, associated with PTCH gene mutation. Its presentation is polymorphous, being frequent to appear the clinical triad carcinomas basal cell, odontogenic cysts and skeletal abnormalities. Skin lesions are a very frequent reason for consultation in the paediatric age, being evaluated in most cases in primary care. Sometimes, patients need the intervention of other specialists to deep in a given area. The medical literature shows a fragmented view of the disease, possibly related to the low frequency of appearance of this syndrome, and by the need for intervention of not transversal knowledge specialist, which is why we feel interesting to evaluate the role of specialist who is developing the activity at primary care, with patients who require a multidisciplinary intervention.
