Gorlin syndrome and bilateral ovarian fibroma

Int J Surg Case Rep. 2012;3(9):477-80. doi: 10.1016/j.ijscr.2012.05.015. Epub 2012 Jun 2.


Introduction: Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders.

Presentation of case: To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma.

Discussion: A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region.

Conclusion: Gorlin-Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary.