Gorlin syndrome and bilateral ovarian fibroma

• Published in: International journal of surgery case reports Vol. 3; no. 9; pp. 477 - 480
• Main Authors: Pirschner, Fernanda, Bastos, Pollyana Marçal, Contarato, George Luiz, Bimbato, Anna Carolina Bon Lima, Filho, Antônio Chambô
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Ltd 01.01.2012; Elsevier
• Subjects: Gorlin–Goltz syndrome; Keratocysts; Nevoid basal cell carcinoma syndrome; Ovarian fibroma; Surgery; Ovarian fibroma; Gorlin–Goltz syndrome; Keratocysts; Nevoid basal cell carcinoma syndrome
• ISSN: 2210-2612; 2210-2612
• DOI: 10.1016/j.ijscr.2012.05.015

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.