Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report

Nilius, Manfred; Kohlhase, Jürgen; Lorenzen, Johann; Lauer, Günter; Schulz, Matthias C.

doi:10.1186/s13005-019-0189-5

Cited by 10 publications

(14 citation statements)

References 55 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…We report two cases of an 11-year-old boy and his 57 years old mother with three major and minor clinical and radiological findings like multiple odontogeneic Keratocysts, basal cell carcinoma, intracranial calcification of the falx cerebri, hypertelorism, skeletal and ophthalmic dysmorphism. The diagnosis prompts an early verification of the disease, which is very important to prevent recurrence and better survival rates of the relatives [19].…”

Section: Discussionmentioning

confidence: 99%

Backwards Screening for Gorlin-Goltz syndrome – Does It Make Sense? - A Family Case Report

2020

AOD

View full text Add to dashboard Cite

Introduction:The Gorlin-Goltz syndrome (GGS) is an autosomal dominant disorder characterized by kerato cystic odontogenic tumors (KCOT) in the jaws, multiple basal cell carcinomas and skeletal and ophthalmic abnormities. It also involved in the nervousand the endocrine system. The prevalence differs from 1:50,000 to 1:150,000. GGS and KCOT do not only appear in an inherited way but also sporadically following mutation of the tumor suppressor gene on chromosome 9 (PTCH1 or PTCH2 gene). Aim:The presented two cases are describing the complex interdisciplinary treatment of a male adolescent patient suffering from GGS and his mother. Initially the mother, who passed the spontaneous new mutation of the PTCH1 gene to her son, was considered as a carrier without any clinical gene expression. After 10 years she also showed KCOTs. It seems that spontaneous mutations, e.g. the mother, have a late-onset of keratocyst formation compared to autosomal-dominant subsequent generations, which are already conspicuous in adolescence.Discussion: The subsequent generation seems to be clinically much more conspicuous in cases of a new mutation of PTCH1 in the parents. That leads to the question, whether it might be useful to derive an indication for a close recall of the until then symptom-free parent generation in the course of a backward screening from a detected GGS case in a juvenile. In the present case, the mother of the boy was only "co-screened" during the active therapy phase of her child in the years 2006-2010, without showing any clinically noticeable findings. Afterwards she was released from the regular recall. The keratocysts discovered 10 years later in the maxillary sinus and the left mandible could have been detected much earlier and treated accordingly, if a close examination had been performed.Clinical relevance: This case documentation show in line with other publications that early diagnosis of a GGS is important -and not only for the treatment of the affected generation. Rather, the early diagnosis of a CGS in a child or adolescent can also lead to an essential therapy for a parent, who has been clinically inconspicuous until then.

show abstract

Section: Discussionmentioning

confidence: 99%

Backwards Screening for Gorlin-Goltz syndrome – Does It Make Sense? - A Family Case Report

2020

AOD

View full text Add to dashboard Cite

show abstract

“…KCOT are frequently diagnosed incidentally [1,5,13,23]. To avoid extensive lesions, frequent dental check-ups and multimodal therapy are necessary [24][25][26]. Furthermore, genetic counseling of the entire family is recommendable due to the dominant inheritance.…”

Section: Diagnosismentioning

confidence: 99%

“…Furthermore, genetic counseling of the entire family is recommendable due to the dominant inheritance. The mother's 11year-old boy had early onset of multiple keratocyst, macrocephaly, hypertelorism, and calcification of the falx cerebri [25]. The sister was not affected by the BCNS but showed bifid ribs like her mother.…”

Section: Diagnosismentioning

confidence: 99%

See 1 more Smart Citation

Late-Onset of Keratocysts in De Novo Mutation c.1347+1G>A on Intron 9 PTCH1- (NBCCS) – Diagnosis and Therapy

Nilius¹,

Nilius²,

Mueller³

et al. 2020

Self Cite

View full text Add to dashboard Cite

Introduction: The occurrence of two main symptoms (calcification of the falx cerebri, odontogenic keratocysts, basal cell carcinoma) and a minimum of one secondary symptom is necessary for de-novo diagnosing a Basal Cell Nevus Syndrome (BCNS). Late diagnosing is usual if the primary symptoms are absent. Subtypes of BCNS may express phenotypes at different ages. Early recognition is needed. The adhesion of keratocysts to the basal bone layer varies, so different treatment options are standard. Aim: A 47-year-old woman without clinical signs of BCNS except macrocephaly suffered from de-novomutation of the PTCH1 gene. Odontogenic keratocysts were recognized sporadically by CB-CT ten years later, as late-onset; Compared to subsequent generations, who often present the main symptoms in childhood. The indication of resection, marsupialization, or enucleation with or without Carnoy-solution is a clinical decision. Conclusion: Despite 100% penetrance, intrafamilial expression of the clinical phenomenon is variable. In child morbidity, the parents’ lifelong co-screening should be mandatory by radiological and clinical investigation. Late-onset KCOT should be resected en-bloc, including soft tissue movement. Enucleation has less morbidity for mandibular keratocysts near the nerve. Carnoy-solution helps minimize the risk of relapse.

show abstract

“…Gorlin-Goltz Syndrome (GGS), also called Basal Cell Nevus Carcinoma Syndrome, is a genetic disorder of autosomal dominant inheritance (Titinchi et al, 2013;Antonoglou et al 2014;Khaliq et al, 2016, Nilius et al, 2019. It was first described by Gorlin andGoltz in 1960 (Gorlin &Goltz, 1960), who characterized it as a triad of multiple nevus basal cell carcinomas, odontogenic keratocysts and bifid ribs (Gorlin & Goltz; Titinchi et al;Figueira et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

Gorlin-Goltz Syndrome: The importance of Clinical Investigation and a Multidisciplinary Approach

Bachesk

Péder

Lustosa

et al. 2021

Int. J. Odontostomat.

View full text Add to dashboard Cite

Gorlin-Goltz Syndrome is a genetic disorder characterized by a series of clinical changes, including the presence of multiple odontogenic keratocysts and nevus basal cell carcinomas. As these lesions involve the maxillofacial region and can evolve to severe sequelae, it is essential that the dental surgeon recognize this pathology, in order to promote a correct investigation and early multidisciplinary diagnosis and treatment. The treatment for the cysts varies according to the lesion's characteristics and location, and therefore, the request for complementary exams is essential. According to literature, the approach varies from conservative to more invasive, and several supporting therapies are mentioned. Thus, this article aims to report a case of a young patient diagnosed with Gorlin-Goltz Syndrome by a dental surgeon, who treated conservatively and interdisciplinarly, and obtained a satisfactory result. In addition, it makes a bibliographic review on this genetic condition, elucidating its therapeutic forms.

show abstract

Multidisciplinary oral rehabilitation of an adolescent suffering from juvenile Gorlin-Goltz syndrome – a case report

Cited by 10 publications

References 55 publications

Backwards Screening for Gorlin-Goltz syndrome – Does It Make Sense? - A Family Case Report

Backwards Screening for Gorlin-Goltz syndrome – Does It Make Sense? - A Family Case Report

Late-Onset of Keratocysts in De Novo Mutation c.1347+1G>A on Intron 9 PTCH1- (NBCCS) – Diagnosis and Therapy

Gorlin-Goltz Syndrome: The importance of Clinical Investigation and a Multidisciplinary Approach

Contact Info

Product

Resources

About