Sindrome di Gorlin Goltz

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La sindrome di Gorlin Goltz o sindrome del Carcinoma Nevoide a Cellule Basali è una patologia multisistemica di natura genetica scoperta per la prima volta nel 1960.
E’ un raro disordine ereditario dominante ed autosomico che si palesa con una moltitudine di carcinomi in particolare delle cellule basali e colpisce sia donne che uomini idifferentemente.
I casi diagnosticati sono pochi con una percentuale di 1 su 160.000 persone e attualmente una reale terapia non esiste se non l’intervento chirurgico per la rimozione delle cisti.



La sindrome sarebbe stata individuata anche in una famiglia di mummie egiziane risalente al XI secolo a. C. e la prima documentazione scientifica risale alla fine del XIX secolo: infatti le lesioni cutanee della sindrome furono segnalate per la prima volta nel 1894, ma vennero riconosciute come parte di un’unica sindrome da due studiosi, Gorlin e Goltz soltanto nel 1960 non a caso un odontostomato-patologo e un dermatologo i quali descrissero due pazienti affetti dalla malattia genetica che presentavano i tre sintomi principali ossia: nevi a cellule basali, cheratocisti della mandibola e anomalie scheletriche.
Ora invce si è a conoscenza che esiste un ampio spettro di manifestazioni a carico dei vari organi e tessuti tanto da coinvolgere nella cura della malattia più specialità chirurgiche e mediche allo stesso tempo.
La causa è genetica dovuta ad un’ anomalia del PTCH mappato in un cromosoma.
I sintomi principali sono la presenza di cheratocisti, ipoplasia dermica, teleangectasie, sindattilia, adattilia e oligodattilia.
Nel caso delle donne affette da questa sindrome questa è una mutazione che non è trasmessa dai genitori se non per una percentuale bassissima del 5%.

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  1. Wow, I had never heard of Gorlin Goltz syndrome before reading this. My cousin was actually diagnosed with something similar last year, and it’s been a real Rocket Goal for our family to understand all the implications. This article does such a great job breaking down this complex condition in a way that’s actually understandable. Thanks for shedding light on something so rare and important!
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