Early recognition of basal cell naevus syndrome
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The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction, although diagnosis in infancy is rare. We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family. Conclusion: Our observations lead us to recommend looking for other manifestations of this disease in patients who present with cardiac fibroma, cleft lip/palate, polydactyly or macrocephaly. Bifid, fused or splayed ribs should be considered a major criterion of great help in establishing a diagnosis, particularly in young children.
KeywordsBifid ribs Ectopic calcification Gorlin syndrome Macrocephaly Polydactyly
basal cell naevus syndrome
The authors thank Dr. A. E. Bale, Department of Genetics, Yale University School of Medicine, New Haven, USA, for performing DNA studies in case 1 and Dr. J. J. P. Gille, Department of Clinical Genetics, Free University, Amsterdam, The Netherlands for the DNA studies in cases 2 and 3. The authors also thank Jackie Senior for her help in preparing the manuscript.
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