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Case Reports
. 2011 Jan 25:7:2.
doi: 10.1186/1746-160X-7-2.

Early diagnosis of Gorlin-Goltz syndrome: case report

Ana R Casaroto  1 , Daniela C N Rocha Loures, Eduardo Moreschi, Vanessa C Veltrini, Cleverson L Trento, Vilmar D Gottardo, Vanessa S Lara
Affiliations
Case Reports

Early diagnosis of Gorlin-Goltz syndrome: case report

Ana R Casaroto et al. Head Face Med. .

Abstract

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

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Figures

Figure 1
Figure 1
Clinical features of NBCCS. (a and b) Facial appearance of patient showed dysmorphic facial features, including relative macrocephaly (a) and ocular hypertelorism (b). (c and d) Lateral and frontal view showing pectum excavatum. (e) Vertebral anomaly characterized by cyphoscoliosis.
Figure 2
Figure 2
Imaging findings of NBCCS. (a) Orthopantographic examination suggesting the presence of multiple KCOTs in the maxilla and mandible (arrow). (b) Tomographic showing calcification of the cerebral falx. (c) Thorax film showing anomalies of the ribs characterized by flattening. (d) 3D tomographic reconstruction, showing spina bifida.
Figure 3
Figure 3
Histopathology findings of KCOT. (a and b) Prominent palisade basal cell layer with dark-staining nuclei and a corrugated surface with parakeratinization (H-E staining, original magnification × 40). (c) Presence of hyaline bodies and inflammatory changes that have destroyed parts of the lining ephitelium (H-E staining, original magnification × 4). (d) Prominent daughter cysts containing keratin whorls (H-E staining, original magnification × 10).
Figure 4
Figure 4
Orthopantographic examination profile at three months follow-up after the surgery to remove the cystic lesions.
See this image and copyright information in PMC

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