Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

Ramanathan, Subramaniyan; Kumar, Devendra; Heidous, Mahmoud Al; Palaniappan, Yegu

doi:10.4103/1817-1745.174437

Cited by 5 publications

(4 citation statements)

References 9 publications

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“…As shown in the presented case, cystic alterations are frequently diagnosed incidentally. In order to avoid extensive lesions, frequent dental check-ups are recommended [10,11]. A treatment including multiple medical disciplines is necessary for the rehabilitation of patients suffering from tumors [11].…”

Section: Discussionmentioning

confidence: 99%

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

2020

AOD

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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.

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Section: Discussionmentioning

confidence: 99%

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

2020

AOD

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“…As shown in the presented case, cystic alterations are frequently diagnosed incidentally. In order to avoid extensive lesions, frequent dental check-ups are recommended during the growth period [14, 33–35]. A treatment including multiple medical disciplines is necessary for the rehabilitation of patients suffering from tumors [33, 36].…”

Section: Discussionmentioning

confidence: 99%

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

Nilius

Kohlhase²,

Lorenzen

et al. 2019

Head Face Med

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BackgroundThe Gorlin-Goltz syndrome is an autosomal dominant disorder characterized by keratocystic odontogenic tumors in the jaws, multiple basal cell carcinomas and skeletal abnormities. Frequently, the manifestation of the syndrome occurs in the adolescent years.Case presentationAn 11-year-old boy was referred to our clinic due to the persistence of the lower deciduous molars. The further diagnosis revealed bilateral keratocystic odontogenic tumors in the region of teeth 33 and 45 representing a symptom of a Gorlin-Goltz syndrome. This case of the oral rehabilitation of an adolescent with bilateral keratocystic odontogenic tumors shows the approach of a multidisciplinary treatment concept including the following elements: Enucleation and bone defect augmentation using a prefabricated bone graft; distraction osteogenesis to extend the graft-block vertically after cessation of growth; accompanying orthodontic treatment, guided implant placement and prosthetic rehabilitation. Six months after implant insertion, a new keratocystic odontogenic tumor in the basal part of the left sinus maxillaris had to be removed combined with the closure of the oroantral fistula. During the follow-up period of 18 months in semi-annual intervals, the patient showed no sign of pathology.ConclusionIn the presented case could be shown that distraction osteogenesis of prefabricated bone blocks is possible. With a multidisciplinary approach in a long-term treatment a sufficient oral rehabilitation of the patient suffering from extended keratocystic odontogenic tumors was possible.

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“…Those patients are underreported in the literature. 11 Calcifications in the falx cerebri are extremely rare in pediatrics; their presence is considered pathologic and should raise suspicion for GS until ruled out. Additional findings consistent with the revised diagnostic criteria would further support the diagnosis ( Table 1).…”

Section: Discussionmentioning

confidence: 99%

Medulloblastoma in a toddler with Gorlin syndrome

Al-Rahawan

Trevino

Jacob

et al. 2018

Baylor University Medical Center Proceedings

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Gorlin syndrome (GS) is a rare hereditary multisystem disorder caused by mutations in , or. It is characterized by multiple anomalies and an increased risk of developing various tumors. Basal cell carcinoma is most common, and medulloblastoma (MB) is especially frequent in patients with mutations. MB treatment often includes radiation therapy in patients older than 3 years; however, such treatment is very toxic to patients with GS. Most reported cases of MB in patients with GS present after GS is diagnosed. We report a male toddler with multicentric posterior fossa tumor and calcifications along the falx cerebri, suggesting MB and GS. Pathology revealed nodular MB. His testing confirmed a germline mutation. His tumor resolved with three induction cycles of chemotherapy, but he died of respiratory failure due to infection at 20 months of age. Overlooking calcifications along the falx cerebri in children with MB can induce significant morbidity.

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Delayed diagnosis of Gorlin syndrome: Learning from mistakes!

Cited by 5 publications

References 9 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

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

Medulloblastoma in a toddler with Gorlin syndrome

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