Nevoid basal cell carcinoma syndrome (NBCCS) is a genetically determined disorder
in which multiple skin tumors indistinguishable from basal cell carcinoma, palmoplantar
pits, malformation of other tissues such as cysts of the jaws, abnormalities of the
ribs and vertebrae, and a variety of less common changes, including ectopic calcification,
cerebral tumors and so on may be observed. The penetrance is almost 100% with variable
expressivity. Because the symptoms may not be discernible in early life stage, the
diagnosis of NBCCS is sometimes difficult. We describe a sporadic case of NBCCS with
palmoplantar pits, skeletal abnormalities, and intracranial calcification. The patient
showed a novel insertion mutation (1408_1409insGGCT) of PTCH1 gene.
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Article info
Publication history
Published online: July 12, 2010
Received:
July 4,
2007
Identification
Copyright
© 2007 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.
