Table 1 Ovarian fibromas with NBCCS published in literature
Author | Year | Age (year) | Race/ethni-city/nationality | Symptom | History | Ovarian fibroma | Previously diagnosed with NBCCS |
|---|---|---|---|---|---|---|---|
Zhu | Current case | 22 | Mongolian | Low back pain | None | Bilateral | No (Diagnosed at age 22 years by ovarian fibromas, intracranial calcification, skeletal abnormalities and palmar pits. Germline testing identified pathogenic heterozygous mutation in PTCH1.) |
Morse [13] | 2011 | 15 | Caucasian | Irregular menses | Medulloblastoma at 6 months, multiple KCOTs at age 7 years | Bilateral | Yes |
Seracchioli [3] | 2001 | 22 | Italian | Irregular menses | KCOTs resection 5 times between age 9–16 years, BCCs at age 16 years | Bilateral | Yes |
Aram [14] | 2009 | 22 | Iranian | Irregular menses | KCOTs at age 12 years; facial dysmorphism | Bilateral | Yes |
Finch [15] | 2012 | 22 | Caucasian | Irregular menses | KCOTs removed at ages 7, 13 and 20 | Unilateral | Yes |
Pirschner [6] | 2012 | 20 | Brazilian | Abdominal swelling | KCOTs at age 10 years; facial asymmetry, micrognathism | Bilateral | Yes |
Osaku [5] | 2021 | 24 | Unknown | None | KCOTs resection at the age of 18 and 20 years, palmar /plantar pits | Unilateral | Yes |
Jimbo [16] | 2014 | 6 | Japanese | Abdominal distension | Macrocephaly at 4 months, medulloblastoma at age 4 years | Unilateral | Yes |
Johnson [12] | 1986 | 3.5 | Black | Unknown | None | Bilateral | No (Diagnosed at age 4 years when basal cell tumors and palmar/plantar pits were noted on examination.) |
Higashi-moto [17] | 2022 | 5 | Japanese | Ovarian torsion | None | Bilateral | No (Diagnosed at age 5 years by detecting de novo germline variants in PTCH1.) |