Draško Cikojević

Comparison of contact endoscopy and frozen section histopathology in the intra-operative diagnosis of laryngeal pathology.

Andrea et al. were the first to use contact endoscopy in the diagnosis of laryngeal disease, in 1995. This method enables in vivo microscopy of laryngeal mucosa. In the present study, comparison of contact endoscopy with frozen section histopathology was performed in 142 patients with various diseases of the larynx. Paraffin section histopathology diagnosed 70 benign lesions, 23 precancerous lesions and 49 malignant lesions. Frozen section histopathology showed a sensitivity of 89.8 per cent, a specificity of 98.9 per cent and an accuracy of 95.7 per cent (chi2 = 1.5; p = 0.18). Frozen histopathology diagnosed 45 malignant lesions, including one false positive and five false negative results. Contact endoscopy yielded a sensitivity of 79.59 per cent, a specificity of 100 per cent and an accuracy of 92.95 per cent (chi2 = 8.1; p = 0.002). All malignant lesions diagnosed by contact endoscopy were confirmed by histopathology; contact endoscopy failed to recognise malignant lesions in 10 patients. Contact endoscopy is preferable to frozen section histopathology as it is noninvasive, provides information on microscopic diagnosis and laryngeal lesion margins, and enables visualisation of the laryngeal mucosa microvasculature. The use of contact endoscopy along with frozen section histopathology improves diagnostic accuracy and allows for operative (or other) therapy to continue according to the results obtained.

Aggressive middle turbinate osteoblastoma with intracranial extension: a case report

IntroductionOsteoblastoma is an uncommon benign bone tumor that accounts for 1 percent of all primary bone tumors. About 30 to 40 percent of all osteoblastoma cases involve the spine. Osteoblastoma involving the nasal cavity is rare, with only 11 reported cases in the English-language literature, while only four cases of turbinate osteoblastoma have been described.Case presentationWe report an unusual case of middle turbinate osteoblastoma associated with right-sided nasal obstruction and severe headache in a 14-year-old Caucasian girl. The tumor involved the right middle turbinate, complete anterior and incomplete posterior ethmoidal cells, and the frontal sinus ostium. Cribriform lamina was, in the most part, consumed by the tumor growth, while the skull base was mostly of normal bone structure.ConclusionsTo the best of our knowledge, this is the first case of middle turbinate osteoblastoma with intracranial spread. Surgical treatment is the only therapeutic option for osteoblastoma.

Respiratory tract involvement in a child with epidermolysis bullosa simplex with plectin deficiency: A case report

We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.

Frequent life-threatening laryngeal attacks in two Croatian families with hereditary angioedema due to C1 inhibitor deficiency harbouring a novel frameshift mutation in SERPING1

Abstract Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare autosomal dominant disease caused by mutations in the SERPING1 gene. It can affect many regions in the body, but potentially life-threatening laryngeal oedemas are of concern. Methods: Twenty-three subjects from two families were recruited for clinical data evaluation and molecular analysis at General Hospital Šibenik, Croatia. Results: Decreased levels of C1 inhibitor were detected in 12 adult patients and three young asymptomatic persons. The same novel deletion of two nucleotides on exon 3 (c.74_75delAT) was identified in all of them. A history of laryngeal oedema was present in 10 patients (83%), and all patients reported laryngeal attacks at least once a year. The delay in diagnosis decreased noticeably from the first to the last generation. Conclusions: We identified a novel causative mutation in SERPING1 in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema. Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype–phenotype relationship. Key messages Hereditary angioedema due to C1 inhibitor deficiency is a rare autosomal dominant disease caused by mutations in the SERPING1 gene, and laryngeal oedema is of concern because it can cause death by asphyxiation. A novel causative mutation in SERPING1, a deletion of two nucleotides on exon 3 (c.74_75delAT), was identified in several affected members of two apparently unrelated families with a high frequency of laryngeal oedema. Molecular analysis of large C1-INH-HAE families will provide new insights on the genotype–phenotype relationship because it appears that the mutation type may affect disease severity.