CASE 9617 Published on 28.02.2012

Gorlin-Gotz syndrome - a conventional look

Section

Musculoskeletal system

Case Type

Clinical Cases

Authors

Pereira J, Lucas R, Bilhim T, Gil P

Hospital Santo António dos Capuchos,
Radiology Department; Lisbon, Portugal;
Email:josepereira1985@hotmail.com
Patient

41 years, female

Categories
Area of Interest Bones ; Imaging Technique Conventional radiography
Clinical History
A middle-aged female patient was on follow up at dermatology department after excision of histologically confirmed basal cell carcinoma(BCC). She had previous surgical interventions because of jaws cysts. Imaging studies revealed skeletal abnormalities.
Imaging Findings
Forty-one-year-old female patient with multiple skin lesions with some years of evolution, on regular follow up at the dermatology department. Excision of the reported lesions revealed features of BCC. Physical examination showed that most of the teeth were missing due to prior surgical interventions to remove odontogenic cysts (first intervention at 13 years of age) and multiple skin lesions. Due to these findings the hypothesis of Gorlin syndrome was considered and a radiographic study was made to search for skeletal abnormalities. The PA chest and costal grid radiographs revealed that the 3rd rib on the left and 8th rib on the right were bifid. The AP and lateral radiographs of the skull showed linear calcification of the falx cerebri and bone cysts. The radiographs which included the spine, the pelvis, hands and feet showed slight osteopenia.
Discussion
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a multisystemic disease caused by mutations in the PTCH1 gene and transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. The prevalence varies from 1/57, 000 to 1/256.000, with a male-to-female ratio of 1:1 [1]. Manifestations may include changes of the skin and many other systems like the stomatological, the central nervous system, the skeletal, the ocular, the genito-urinary and the cardiovascular [1, 2] BCCs most often appear between puberty and 35 years of age varying in number and in size, appearing , most likely, on the sun-exposed parts of the body [2].
Recurrent jaw cysts are the main oral sign and are known as odontogenic keratocyst (OKCs), being the most consistent and representative signs of NBCCS in the first and the second decades of life [3] .
Other features are calcification of the falx cerebri, palmar and plantar epidermal pits, spine and rib anomalies, relative macrocephaly, facial milia, frontal bossing, ocular malformation, medulloblastomas, cleft lip and/or palate, and developmental malformations [1, 2, 3, 4].

The clinical diagnosis of NBCCS can be made in the presence of two major criteria or one major and two minor criteria [1].
Major criteria: 1. Multiple (>2) BCCs or one under 20 years 2. Odontogenic keratocysts of the jaws 3. Palmar or plantar pits (3 or more) 4. Bilamellar calcification of the falx cerebri 5. Bifid, fused or markedly splayed ribs 6. First degree relatives with NBCCS
Minor criteria: 1. Macrocephaly 2. Congenital malformation: cleft lip or palate, frontal bossing, "coarse face", moderate or severe hypertelorism 3. Other skeletal abnormalities: sprengel deformity, marked pectus deformity, marked syndactyly of the digits 4. 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 lucencies of the hands or feet 5. Ovarian fibroma 6. Medulloblastoma.
The present case report features a patient with multiple BCCs, odontogenic keratocysts of the jaws, bilamellar calcification of the falx cerebri and bifid ribs which accounts for 4 major criteria. With these findings we can conclude that our patient has NBCCs.
Management of NBCCs requires a multidisciplinary approach (dermatologist, neurologist and odontologist). Life expectancy in NBCCS is not significantly altered, however, these patients need to avoid excessive sun exposure to prevent the BCCs from becoming invasive [3].
Differential Diagnosis List
Nevoid basal cell carcinoma or syndrome Gorlin-Golz syndrome
Bazex syndrome
Trichoepithelioma papulosum multiplex
Muir-Torre\'s syndrome
Final Diagnosis
Nevoid basal cell carcinoma or syndrome Gorlin-Golz syndrome
Case information
URL: https://www.eurorad.org/case/9617
DOI: 10.1594/EURORAD/CASE.9617
ISSN: 1563-4086