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European Journal of Pediatrics

, Volume 173, Issue 5, pp 667–670 | Cite as

Nevoid basal cell carcinoma syndrome with a unilateral giant ovarian fibroma in a Japanese 6-year-old girl

  • Takahiro Jimbo
  • Kouji Masumoto
  • Yasuhisa Urita
  • Hajime Takayasu
  • Toko Shinkai
  • Toru Uesugi
  • Chikashi Gotoh
  • Naoya Sakamoto
  • Takato Sasaki
  • Tatsuyuki Oto
  • Takashi Fukushima
  • Emiko Noguchi
  • Yoshiro Nakano
Short Communication

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by basal cell carcinoma, skeletal abnormalities, benign tumors including ovarian fibroma, and various other phenotypic expressions. Ovarian fibromas in NBCCS before puberty are very rare. We report a 6-year-old prepubescent girl with NBCCS showing skeletal abnormalities, medulloblastoma, and ovarian fibromas. The patient was referred to our hospital owing to abdominal distension. On admission, a huge elastic hard tumor was palpable and computed tomography showed a huge tumor of the left ovary. We performed a left salpingo-oophorectomy and diagnosed the tumor as a benign fibroma. Further examination of the computed tomography images showed skeletal abnormalities. In addition, the patient had a history of medulloblastoma at the age of 4 years. Therefore, we diagnosed NBCCS. A genetic examination indicated a novel 1 bp deletion in exon 18 (c.3055delG). Sequence analysis of exon 18 using DNA from the ovarian tumor revealed a mutant allele (c.3055delG) dominant to the wild-type allele, thus suggesting loss of heterozygosity in the PTCH1 gene, which is known to be associated with NBCCS. Conclusion On the basis of our experience, physicians treating pediatric ovarian tumors should be aware that such huge benign ovarian tumors may be a phenotype of NBCCS, as shown in our patient. In addition, genetic examination focusing on the PTCH1 gene might be important for diagnosis of NBCCS in pediatric patients.

Keywords

Nevoid basal cell carcinoma syndrome Ovarian fibroma Prepuberty PTCH1 

Notes

Acknowledgments

We thank Drs. T. Hashimoto-Tamaoki, K. Noguchi, and M. Urade for their support. This work was supported in part by a Grant-in-Aid for Scientific Research (no. 24592854) from the Japan Society for the Promotion of Science (to Y.N).

Conflict of interest

The authors declare that they have no conflict of interest.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Takahiro Jimbo
    • 1
  • Kouji Masumoto
    • 1
  • Yasuhisa Urita
    • 1
  • Hajime Takayasu
    • 1
  • Toko Shinkai
    • 1
  • Toru Uesugi
    • 1
  • Chikashi Gotoh
    • 1
  • Naoya Sakamoto
    • 1
  • Takato Sasaki
    • 1
  • Tatsuyuki Oto
    • 2
  • Takashi Fukushima
    • 2
  • Emiko Noguchi
    • 3
  • Yoshiro Nakano
    • 4
  1. 1.Department of Pediatric Surgery, Faculty of MedicineUniversity of TsukubaTsukubaJapan
  2. 2.Department of Pediatrics, Faculty of MedicineUniversity of TsukubaTsukubaJapan
  3. 3.Department of Medical Genetics, Faculty of MedicineUniversity of TsukubaTsukubaJapan
  4. 4.Department of GeneticsHyogo College of MedicineNishinomiyaJapan

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