Gorlin-Goltz syndrome (GGS), also known as the
nevoid basal cell carcinoma syndrome (NBCCS), is an
autosomal dominant inherited disorder (
GGS is characterized mainly by the presence of multiple
basal cell carcinomas (BCC), odontogenic keratocysts
(OKCs) of the jaw, palmar pits and ectopic calcifications
of the cerebral falx. More than a 100 minor criteria have
also been described. The presence of two major and one
minor criteria or one major and three minor criteria are
necessary to establish a diagnosis (
Criteria for diagnosis Gorlin-Goltz syndrome
|The major criteria are:||The minor criteria are:|
|Multiple BCC or one occurring under the age of 20 years||Macrocephaly (adjusted for height)|
|Histologically proven OKCs of the jaws||Congenital malformation: cleft lip/palate, frontal bossing, coarse face, moderate or severe hypertelorism|
|Palmar or plantar pits (three or more)||Other skeletal abnormalities: sprengel deformity, marked pectus deformity, marked syndactyly of the digits|
|Bilamellar calcification of the falx cerebri||Radiological abnormalities: bridging of the sella turcica, vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies, modeling defects of the hands and feet or flame shaped hands or feet|
|Bifid, fused or markedly splayed ribs||Ovarian fibroma|
|A first-degree relative with NBCCS||Medulloblastoma|
BCC; Basal cell carcinoma, OKCs; Odontogenic keratocysts and NBCCS; Nevoid basal cell carcinoma syndrome
Early diagnosis of the syndrome is of great clinical importance
since the severity of complications, such as maxillofacial
deformities related to the jaw cyst, can be avoided and
long-term prognosis of malignant skin lesion and brain tumor
is better when early diagnosis and treatment is initiated (
Diagnosis of NBCCS may be difficult because of variable
expressivity and different age-onsets for different
traits of this disorder. The average age for diagnosis of
NBCCS is 13 years while the average age for detection
of basal cell carcinoma is 20 years. The clinical expression
of the syndrome varies among individuals within the
same family and to a greater extent among families (
A 25 year-old female was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital because of chronic abdominal pain, myomatous uterus and a 6×8 cm2 right adnexal mass suspicious to be a dermoid cyst in sonography and magnetic resonance imaging (MRI) reports due to the presence of dense calcification in the tumor. Tumor markers were all normal. She had been born by uncomplicated normal vaginal delivery. She spoke and walked at 19 months of age and her neurodevelopment was normal. At 21 years of age, she was diagnosed with OKCs in the mandibular and maxillary regions, and submitted to surgery for the removal of her dental cysts. In less than a year, the surgery was repeated due to recurrent OKCs.
One year later, she complained of pain in her lower abdomen
and underwent trans-abdominal ultrasonography
and pelvic MRI, which revealed the right ovarian mass,
suspicious of being a dermoid cyst, and a myomatosis
septated uterus. Physical examination revealed hirsutism
with harsh face and multiple nevi on face and upper trunk.
She underwent laparoscopic surgery but after abdominal
entry, we encountered unusual round solid ovarian masses,
which could not be excluded as malignant. Frozen sections,
however, showed they were benign. There was a 6
cm endometrioma in the right ovary and multiple bilateral
ovarian fibromas (Figes
According to the laparoscopy outcome, pathologic findings and history of recurrent OKCs, Gorlin syndrome was the top differential diagnosis. Investigation for other signs and symptoms of this syndrome confirmed the diagnosis. Chest radiography, posterior-anterior skull view and spine x- rays were normal. We referred the patient to a dermatologist and excisional biopsy of nevi was undertaken. Fortunately, the pathologic examination was benign. A written consent was taken from the patient for publication of this report.
The right ovary with endometrioma and fibroma.
The left ovary with endometrioma and fibroma.
GS is an autosomal dominant disorder with near complete
penetrance and variable expressivity, and with an
estimated birth incidence of 1 in 19,000 individuals (
Our patient had one major criterion (i.e. multiple OKCs in the jaw) and 2 minor features (i.e. multiple bilateral ovarian fibromas and a coarse face), thus suggesting it to be a case of GGS.
Three quarters of female patients with GGS are affected with ovarian fibroma that could be bilateral and recurrent, and thus requires repeated surgery. Fertility of the patient may be influenced by these repeated surgeries and one of the important consultations with these patients has to be about fertility preservation plans. Ovarian fibromas can be excised with minimally invasive methods and the function of the ovary can be preserved at a healthier state.