Letter to the Editor| Volume 50, ISSUE 1, P73-75, April 2008

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A novel PTCH1 mutation in a patient of nevoid basal cell carcinoma syndrome

      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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        • Hahn H.
        • Wicking C.
        • Zaphiropoulous P.G.
        • Gailani M.R.
        • Shanley S.
        • Chidambaram A.
        • et al.
        Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome.
        Cell. 1996; 85: 841-851
        • Wolter M.
        • Reifenberger J.
        • Sommer C.
        • Ruzicka T.
        • Reifenberger G.
        Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
        Cancer Res. 1997; 57: 2581-2585
        • Aszterbaum M.
        • Epstein J.
        • Oro A.
        • Douglas V.
        • LeBoit P.E.
        • Scott M.P.
        • et al.
        Ultraviolet and ionizing radiation enhance the growth of BCCs and trichoblastomas in patched heterozygous knockout mice.
        Nat Med. 1999; 5: 1285-1291
        • Evans D.G.
        • Ladusans E.J.
        • Rimmer S.
        • Burnell L.D.
        • Thakker N.
        • Farndon P.A.
        Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
        J Med Genet. 1993; 30: 460-464
        • Kimonis V.E.
        • Goldstein A.M.
        • Pastakia B.
        • Yang M.L.
        • Kase R.
        • DiGiovanna J.J.
        • et al.
        Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
        Am J Med Genet. 1997; 69: 299-308
        • Gallet A.
        • Rodriguez R.
        • Ruel L.
        • Therond P.P.
        Cholesterol modification of hedgehog is required for trafficking and movement, revealing an asymmetric cellular response to hedgehog.
        Dev Cell. 2003; 4: 191-204
        • Marsh A.
        • Wicking C.
        • Wainwright B.
        • Chenevix-Trench G.
        DHPLC analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain.
        Hum Mutat. 2005; 26: 283
        • Chang D.T.
        • Lopez A.
        • von Kessler D.P.
        • Chiang C.
        • Simandl B.K.
        • Zhao R.
        • et al.
        Products, genetic linkage and limb patterning activity of a murine hedgehog gene.
        Development. 1994; 120: 3339-3353
        • Stockfleth E.
        • Trefzer U.
        • Garcia-Bartels C.
        • Wegner T.
        • Schmook T.
        • Sterry W.
        The use of Toll-like receptor-7 agonist in the treatment of basal cell carcinoma: an overview.
        Br J Dermatol. 2003; 149: 53-56
        • Goodrich L.V.
        • Milenković L.
        • Higgins K.M.
        • Scott M.P.
        Altered neural cell fates and medulloblastoma in mouse patched mutants.
        Science. 1997; 277: 1109-1113