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  • Title: Nevoid basal cell carcinoma syndrome presenting with neck pits and café au lait patches.
    Author: Balasundram S, Kovilpillai FJ, Hopper C.
    Journal: J Clin Pediatr Dent; 2010; 35(1):95-100. PubMed ID: 21189772.
    Abstract:
    BACKGROUND: A 10- year-old patient presented with a slow growing jaw swelling. The initial general examination did not reveal any significant findings. METHODS: Conservative enucleation of the cyst confirmed it to be an odontogenic keratocyst. The patient remained asymptomatic for the following 2 years and subsequently presented cystic lesions in jaws with displaced teeth. These cysts were enucleated and were confirmed to be odontogenic keratocysts . The patient has been on regular follow up since then and subsequent scans have shown further occurrence of cysts in the jaws with displacement of the third molars. RESULTS: Clinical examination also revealed macrocephaly, fronto-parietal bossing, pitting on palmar and plantar surfaces, calcification of falx cerebri and splayed ribs, confirming the diagnosis of nevoid basal cell carcinoma syndrome. He also presented with a cafi au lait patch and skin pits on the neck. The family history was negative for features of nevoid basal cell carcinoma syndrome. CONCLUSION: Nevoid basal cell carcinoma syndrome is a condition that can cause significant morbidity if not detected early. Over the years this syndrome has presented with many other non specific phenotype presentation, of which the current finding may be one of This calls for meticulous assessment and examination of patients and a standardized protocol in screening and managing these patients that may facilitate a more beneficial outcome for the patient.
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