Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident

Abstract

IntroductionGorlin-Goltz syndrome is a rare hereditary disease. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss or mutations of human patched gene (PTCH1 gene). Multiple basal cell carcinomas (BCCs), odontogenic keratocysts, skeletal abnormalities, hyperkeratosis of palms and soles, intracranial ectopic calcifications of the falx cerebri and facial dysmorphism are considered the main clinical features. Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by DNA analysis. Because of the different systems affected, a multidisciplinary approach team of various experts is required for a successful management.Case presentationWe report the case of a 19 year-old female who was involved in a car accident and found to present imaging findings of Gorlin-Goltz syndrome during a routine whole body computed tomography (CT) scan in order to exclude traumatic injuries.ConclusionRadiologic findings of the syndrome are easily identifiable on CT scans and may prompt to early verification of the disease, which is very important for regular follow-up and better survival rates from the co-existent diseases.

Non-Syndromic Multiple Odontogenic Keratocysts: A Case Report and Comparison with Syndromic Multiple Odontogenic Keratocysts

“…The more relevant are the following: cardiac or ovarian fibroma, macroencephaly, bifid ribs, kyphoscoliosis, cleft palate, medulloblastoma, alterations in the sella turcica, mandibular prognathia, lateral displacement of the inner canthus, frontal and biparietal bossing, imperfect segmentation of the cervical vertebrae, meningiomas, fibrosarcoma, rhabdomyosarcoma, short fourth metacarpal, ocular hypertelorism, congenital blindness, high arched eyebrows and palate, narrow sloping shoulders, immobile thumbs, low pitch voice in women, renal anomalies, and hypogonadism in men. In certain occasions, a tall height and even similar characteristics to acromegaly have been associated with the syndrome [9][10][11][12]. Evans et al [13] first established major and minor criteria for the diagnosis of the syndrome and later were modified by Kimonis et al [14].…”

Gorlin-Goltz syndrome – A case Report

“…Approximately, 35-50% of cases are due to new mutations. [7] Evans et al [8] first established major and minor criteria for diagnosis of this rare entity, later modified by Kimonis et al [9]. Although these criteria are not absolute, they can help guiding the clinician's laboratory evaluation for both diagnostic purposes and routine follow up.…”

Gorlin-Goltz Syndrome, An Incidental Finding: A Rare Case Report

“…9 The male to female ratio for those who are not having nevoid basal cell carcinomas are 1:0.62 but it varies to 1:1.22 among patients with nevoid basal cell carcinoma but an equal distribution among people are accepted by everyone. [4][5][6]8,9 Keratocyst involvement are more predominantly seen in mandible, in which the ramus part of the mandible (43%) are affected more commonly followed by the anterior region (18%) and the premolar region (7%). 9 In the maxilla, anterior regions are more involved (14%) than the posterior (12%) and the premolar…”

“…[6][7][8] But a clear and refined report was documented by Kimoni et al in the year 1997 who established and streamlined the anomalies as the major and minor criterias for diagnostic purpose and according to Kimoni's protocol the disease can be diagnosed as Gorlin-Goltz syndrome if two major criterias or one major criteria with two minor criterias are present. 4,5 More than 100 minor criterias of multiple systems were documented so for. 8,9 Presence of multisystem anomalies in patients who have keratocysts, are found in less than 10% of the cases only.…”

“…13 Autosomal dominant trait is explained as the etiologic factor for the development of this syndrome. [4][5][6] The syndrome shows high degree penetration rate and variable expressiveness at least on three body systems. 6,7 Different names have been attributed to this syndrome namely, nevoid basal cell carcinoma, basal cell epithelioma, jaw cyst bifid rib syndrome and Gorlin-Goltz syndrome.…”