Gorlin-Goltz Syndrome: clinical findings in the Italian population

Miraglia, Emanuele; Laghi, Alessandro; Iacovino, Chiara; Moramarco, Antonietta; Giustini, Sandra

doi:10.23736/s2784-8671.20.06609-2

Cited by 2 publications

(2 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It is usually associated with a mutation in patched 1 gene located on chromosome 9. The prevalence of the syndrome is between 1:57,000 and 1:256,000 [6]. Evans et al reported an incidence of 1 per 560,000 in the United Kingdom, while the estimated incidence in Australia and Italy is 1 per 64,000 and 256,000, respectively [7].…”

Section: Discussionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: A Case Series

Salahudheen,

Haidry,

Mokhtar

et al. 2023

Cureus

View full text Add to dashboard Cite

Gorlin-Goltz syndrome (GGS) among Indians is rarely reported. Since 1960, only 38 cases having 48 patients of Gorlin-Goltz syndrome have been identified in the Indian population. It is crucial to diagnose this illness early because it can be connected to a malignant lesion like fibrosarcoma, leiomyosarcoma or rhabdomyosarcoma. The four patients in this case series were identified and treated in our department between 2019 and 2023. The average patient age was around 20 years old. Jaw swelling and tooth movement were the two most typical presenting concerns. Odontogenic keratocysts (100%), palmer pits (100%), plantar pits (50%), calcification of falx cerebri (50%), and rib abnormalities (50%), were the most prevalent characteristics. None of the patients had basal cell cancer, cleft lip, or medulloblastoma. Multiple odontogenic keratocysts were present in three cases, whereas a single odontogenic keratocyst (OKC) was seen in one patient. Patients were managed with either marsupialization or enucleation, depending on the size of the cyst. Two cases with a large cyst size were marsupialized by using a modified obturator. Two cases with small cysts were managed with enucleation of the cyst followed by chemical cauterization. Recurrence was seen in two cases. In one patient, we noticed the formation of a new cyst. A GGS diagnosis can be made by having a systemic evaluation of the patient. A thorough examination of the patient should be performed in every histopathology-diagnosed case of OKC. This will help to miss the syndromic cases. The treatment part should be conservative, like marsupialization with an obturator in a large cyst. The obturator helps maintain patient hygiene and prevents regular visits for changing dressings. Small-sized cysts can be managed with enucleation and chemical cauterization. Radical resection should be avoided.

show abstract

Section: Discussionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: A Case Series

Salahudheen,

Haidry,

Mokhtar

et al. 2023

Cureus

View full text Add to dashboard Cite

show abstract

“…Generally; NBCCS is followed by multiple nevoid basal cell carcinoma of the skin, orbital anomalies, skeletal anomalies, central nervous system anomalies and multiple odontogenic keratocysts (OK). NBCCS is usually first diagnosed between the ages of 5–30 years, with multiple basal cell carcinomas of the skin and OKs in the jaws as the initial findings ( Friedrich, 2014 , Mufaddel et al, 2014 , Tarnoki et al, 2014 , Anchlia et al, 2015 , da Silva Pierro et al, 2015 , Hajalioghli et al, 2015 , Lata et al, 2015 , Ozcan et al, 2016 , Ponti et al, 2016 , Nilesh et al, 2017 , Kumar et al, 2018 , Bartos et al, 2019 , Moramarco et al, 2019 , Silva et al, 2020 , Rafiq et al, 2021 , Yin and Shi, 2021 , Igaz et al, 2022 , Miraglia et al, 2022 ). OKs in these cases are usually observed in more than one quadrant, earlier and with higher recurrence rates compared to the non-syndromic OKs.…”

Section: Introductionmentioning

confidence: 99%