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Gorlin-Goltz syndrome: Multidisciplinary approach for early diagnosis of rare disease for better patient outcome

Authors: Abdi Alemayehu,Suleyman Fantahun,Gelana Garoma,Matewos Amare,Firaol Birhanu
Journal: Radiology Case Reports
Publisher: Elsevier BV
Publish date: 2025-9
ISSN: 1930-0433 DOI: 10.1016/j.radcr.2025.06.012
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The authors note that Gorlin-Goltz syndrome typically presents between 17–35 years of age, yet their patient presented at 37. They also mention that ectopic fak calcification is particularly suggestive in individuals under 20. What is the justification for the delayed diagnosis, and how do the authors reconcile the patient’s age with the typical early radiographic signs?
The authors state that genetic testing for PTCH1 mutation was not performed due to resource limitations. How does this affect the certainty of the diagnosis, especially given that multiple odontogenic keratocysts (OKCs) can also occur in non-syndromic forms or other syndromes (e.g., Noonan syndrome)? Were any alternative syndromic diagnoses rigorously excluded?

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2 weeks, 4 days ago

One of the major diagnostic criteria is basal cell carcinoma (BCC) or palmar/plantar pits. The patient reportedly had no skin lesions, but no mention is made of a systematic dermatologic examination (e.g., Wood’s lamp, biopsy of suspicious lesions). How can the authors be certain that subtle cutaneous manifestations were not overlooked, especially in a resource-limited setting?
The description of Figure 1 mentions a bifid spinous process (white arrow in B), but this is not clearly labeled or explained in the captions. Is this finding part of the current case or an example from another?
Table 1 lists diagnostic criteria but does not reference the specific source or version used (e.g., Evans et al., Kimonis et al.). Which criteria set was applied, and are the authors aware of updated guidelines (e.g., from the 2022 International Consensus Statement)?
The authors mention written informed consent for images and clinical data. Was institutional review board (IRB) or ethics committee approval obtained for this case report? If not, how was ethical compliance ensured, particularly regarding patient anonymity and data protection?

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