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Introduction. A postsurgical ciliated cyst (PSCC) is an epithelial cyst that usually develops in the maxilla, although in rare cases, it can affect the mandible or other facial bones. The typical age of diagnosis is 40-50 years, with no gender prevalence, and the mean cyst development occurs approximately 10-15 years following a surgical or traumatic event. Some epithelial respiratory cells can be trapped into the bone tissue during maxillary surgical procedures or maxillary fractures. The pathogenetic mechanism can be attributed to an inflammatory process that stimulates epithelial proliferation, leading to cyst expansion caused by osmotic pressure difference. Methods. This study presents case series involving three surgical ciliated cysts located in the left maxilla, affecting two female patients (aged 49 and 55 years) and one male patient (aged 39 years). In all three cases, symptoms such as pain or swelling were mild and not consistently present. Two cases showed cyst development 10 and 15 years after implant placement, while one case was not associated with any surgical or traumatic event. CT scan identified well-defined unilocular lesions in the maxillary bone in each patient. Results. Histopathological examination of the surgical specimens confirmed the suspected diagnosis of a PSCC of maxilla. The cystic walls consisted of fibrous connective tissue with chronic inflammatory infiltrate, lined exclusively by a thin layer of ciliated pseudostratified columnar epithelium. In the third patient, it was not possible to rule out an unusual radicular cyst. Conclusions. Although PSCCs are not commonly encountered in daily practice, clinicians should consider this possibility including it in the differential diagnosis of odontogenic jaw cysts and benign jaw tumors, particularly in patients who have undergone previous surgeries in the maxillary area.

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder, affecting 1:5000 individuals worldwide. All the genes associated to the disease (ENG, ACVRL1, SMAD4, GDF2) belong to the TGF‐β/BMPs signaling pathway. We found 19 HHT unrelated families, coming from a Northern Italy region and sharing the ACVRL1 in‐frame deletion c.289_294del (p.H97_N98). Methods To test the hypothesis of a founder effect, we analyzed 88 subjects from 19 families (66 variant carriers, showing clinical signs of HHT, and 22 non‐carriers, unaffected) using eight microsatellite markers within 3.7 Mb around the ACVRL1 locus. After the haplotype reconstruction, age estimation of the variant was carried out. Results We observed a common disease haplotype in 16/19 families, while three families showed evidence of recombination around the ACVRL1 locus. The subsequent age estimation analyses suggested that the mutation occurred about 8 generations ago, corresponding to about 200 years ago. We also present novel in silico and modeling data supporting the variant pathogenicity: the deletion alters the protein stability and removes the unique extracellular glycosylation site. Conclusion We have demonstrated, for the first time, a “founder effect” for a HHT pathogenic variant in Italy.

Hereditary hemorrhagic telangiectasia (HTT) is an autosomal dominant disease, most frequently caused by a mutation in either ENG or ACVRL1 , which can be associated with pulmonary arterial hypertension (PAH). In this report, we describe a new unpublished ACVRL1 mutation segregating in three members of the same family, showing three different types of pulmonary hypertension (PH) in the absence of BMPR2 mutations. The first patient has a form of heritable PAH (HPAH) in the absence of hepatic arteriovenous malformations (AVMs); the second one has a severe form of portopulmonary hypertension (PoPAH) associated with multiple hepatic AVMs; the third one has hepatopulmonary syndrome (HPS) with numerous hepatic arteriovenous fistulas and a form of post-capillary PH due to high cardiac output. In summary, a single mutation in the ACVRL1 gene can be associated, in the same family, with an extreme phenotypic variability regarding not only the clinical presentation of HHT but also the type of PH in the absence of BMPR2 mutations. More studies are needed to evaluate if this variability can be explained by the presence of additional variants in other genes relevant for the pathogenesis of HHT.

Pleomorphic adenoma is the most common benign tumor of the parotid glands. Rarely it may arise from minor salivary glands of the upper aerodigestive tract. A 57-year-old woman was admitted at our institution presenting with nasal obstruction. Endoscopic evaluation revealed a pedicled mass in the rhinopharynx. After radiological examination, we opted for a transnasal endoscopic-assisted excision of the mass under general anaesthesia. Histological evaluation deponed for pleomorphic adenoma with clear surgical margins. No endoscopic evidence of local recurrence has been shown after 48 months of followup. In the literature, few cases of pleomorphic adenoma arising in the rhinopharynx have been reported. The introduction of endoscopy, as shown by our experience, leads to important benefits in the identification, treatment, and followup of such rhinopharyngeal benign tumors.