Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2012;3(9):477-80.
doi: 10.1016/j.ijscr.2012.05.015. Epub 2012 Jun 2.

Gorlin syndrome and bilateral ovarian fibroma

Fernanda Pirschner  1 , Pollyana Marçal Bastos, George Luiz Contarato, Anna Carolina Bon Lima Bimbato, Antônio Chambô Filho
Affiliations

Gorlin syndrome and bilateral ovarian fibroma

Fernanda Pirschner et al. Int J Surg Case Rep. 2012.

Abstract

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.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
(A) Gorlin syndrome. Facial asymmetry, dental abnormalities. (B) Gorlin syndrome. Pectus excavatum. (C) Gorlin syndrome. Calcification of the falx cerebri. (D) Gorlin syndrome. Histology of the calcified ovarian fibroma. (E) Gorlin syndrome. Left ovarian fibroma.
See this image and copyright information in PMC

References

    1. Hilgert R., Fonseca L.A., Felipe F.F. Gorlin's Syndrome: report of family involvement. Revista de Cirurgia e Traumatologia Buco-maxilo-facial Camaragibe. 2010;10:39–44.
    1. Dávalos C.P., Vélez J.U., Mori Estévez A.D. Gorlin's Syndrome. A case. Revista Habanera de Ciencias Médicas de la Habana. 2008;7(1)
    1. Carbia S.G., Marrero M., Glorio R., Etchart C., La Forgia M. Nevoid basal-cell carcinoma syndrome (Gorlin syndrome) Archivos Argentinos de Dermatología. 2009;15:209–212.
    1. Dowling P.A., Fleming P., Saunders I.D., Gorlin R.J., Napier S.S. Odontogenic keratocysts in a 5-year-old: initial manifestations of nevoid basal cell carcinoma syndrome. Pediatric Dentistry. 2000;22:53–55. - PubMed
    1. Leonardi R., Caltabiano M., Lo Muzio L., Gorlin R.J., Bucci P., Pannone G. Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: an undescribed sign. American Journal of Medical Genetics. 2002;110:400–403. - PubMed