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literature on BPS and genetics  

ESSIC uses the name bladder pain syndrome (BPS) instead of interstitial cystitis (IC) and/or painful bladder syndrome (PBS):
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  • EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?
    Maclean K, Holme SA, Gilmour E, et al. Am J Med Genet A 2007 Apr 12; [Epub ahead of print]
    • case report on two unrelated families with EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft lip/palate), each with an Arg227Gln TP63 gene mutation
    • features common to both families were an ectodermal dysplasia principally affecting tooth, breast and nipple development, dacryostenosis and severe micturition difficulties; additional findings included post-axial digital hypoplasia, cleft uvula, anal stenosis, hypoplasia of the perineal body and biopsy-proven
    interstitial cystitis
    • unlike previous reports, the urinary symptoms were refractory to treatment with oral Fibrase and persisted into adulthood
    • of the 6 cases/families now reported with EEC syndrome and Arg227Gln TP63 mutation, 4 have manifested this distinct urological abnormality, indicative of a genotype-phenotype correlation
  • A case of familial clustering of interstitial cystitis and chronic pelvic pain syndrome.
    Dimitrakov JD. Urology 2001;58:281
    • a case of familial clustering of interstitial cystitis (IC) and chronic pelvic pain syndrome (CPPS) is reported
    • the proband was a 28-year-old woman with IC; IC was also diagnosed in the patient's mother and in two of her brothers, previously considered to have CPPS (category IIIB CPPS). A third brother was asymptomatic


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