Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.

BACKGROUND: Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis caused by a mutation in any one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16 or KRT17). Characteristic features of PC are painful palmoplantar keratoderma, variable nail dystrophy, cysts, follicular hyperkeratosis and often oral leukokeratosis. Although oral leukokeratosis can go unnoticed, mucosal involvement of the oral cavity and upper airways can manifest with pain during feeding, hoarseness, stridor and, occasionally, life-threatening obstruction. OBJECTIVES: To characterize patients with PC with symptomatic mucosal involvement. METHODS: We present a case series of nine children with PC with symptomatic mucosal involvement, all with heterozygous mutations in KRT6A. Seven patients complained of painful feeding problems. Four patients were diagnosed with failure to thrive, three of whom required a feeding tube. Simple feeding solutions were beneficial in most cases. Seven patients had laryngeal involvement and one patient died at 4 years of age from acute laryngeal obstruction. CONCLUSIONS: It is important for dermatologists and otolaryngologists to be aware that symptomatic mucosal involvement, and very rarely laryngeal obstruction, can occur in patients with PC. Usually simple feeding solutions may prevent complications and failure to thrive. What's already known about this topic? Pachyonychia congenita (PC) is a rare autosomal dominant genodermatosis due to a mutation in any one of five keratin genes. Symptomatic mucosal involvement is an important clinical feature of PC and appears to be more pronounced in KRT6A mutation carriers. Only leukokeratosis is frequently seen in PC and can be one of the earliest signs of disease. Laryngeal involvement is a less common feature. It might be symptomatic but usually presents as hoarseness, stridor and, occasionally, as a life-threatening respiratory distress. What does this study add? In most cases of laryngeal involvement, there is no need for any intervention. Although pain and feeding difficulties are usually attributed to the oral leukokeratosis, they can be related to a phenomenon called 'first bite syndrome' (FBS). Symptomatic mucosal involvement with feeding difficulty is important but can be managed in most cases with simple feeding solutions (e.g. softer nipple with a larger hole, thicker formula and feeding with a syringe). Linked Comment: Youssefian and Vahidnezhad. Br J Dermatol 2020; 182:536-537.

Cephalometric findings among children with velopharyngeal dysfunction following adenoidectomy-A retrospective study.

OBJECTIVES: To characterise the craniofacial structure by cephalometry, especially the skull base and nasopharyngeal space, in children who underwent adenoidectomy and developed persistent velopharyngeal dysfunction (VPD). DESIGN: Retrospective study. SETTING: Speech and swallowing clinic of a single academic hospital. PARTICIPANTS: Thirty-nine children with persistent VPD following adenoidectomy (mean age 8.0±3.6 years) and a control group of 80 healthy children. MAIN OUTCOME MEASURES: Cephalometric landmarks were chosen; craniofacial linear and angular dimensions were measured and analysed. RESULTS: The linear dimensions of the nasopharyngeal area were shorter in the VPD group, S-Ba (41.6±4.2 mm, P<.05) and S-Ptm (42.4±5.1 mm, P<.05). The anterior skull base, N-S, was similar (68.1 mm±6.8). The velum length, Ptm-P was significantly shorter in the VPD group (27.8±4.3 mm, P<.001). The Ba-S-Ptm angle was significantly larger in the VPD group (63.5±5.6°, P<.001). There was no significant difference in cranial base angle (CBA), Ba-S-N, between the two groups. CONCLUSIONS: Cephalometry may provide information regarding persistent postoperative VPD. The nasopharyngeal space angle and velar length appear to be risk factors for persistent VPD after adenoidectomy.

Recurrent meningitis and cerebrospinal fluid leak-two sides of the same vestibulocochlear defect: report of three cases.

Cochlear dysplasia is a rare congenital anomaly. However, early detection of this anomaly can prevent serious consequences. We describe three cases of cochlear dysplasia that presented with recurrent meningitis and cerebro-spinal fluid (CSF) leak in children in which early diagnosis prevented further complications.

Long-term histologic effects of inferior turbinate laser surgery.

OBJECTIVE: In this study we sought to define the histologic changes produced by laser treatment of inferior turbinates. STUDY DESIGN: Eight inferior turbinates with prior laser treatment (mean, 26.8 months) were analyzed by light microscopy after turbinectomy for relief of refractory nasal obstruction. Histologic findings were compared with those of a group of 8 hypertrophic inferior turbinates that had no previous laser surgery. RESULTS: Laser-treated areas of the inferior turbinates demonstrated a histologically bland appearance, with marked diminution of seromucinous glands and relative preponderance of connective tissue matrix. Prominence of venous sinusoids was also significantly reduced in the laser-treated areas. Surface epithelium including goblet cells was reconstituted over the areas of laser application. CONCLUSION: Clinical laser surgery of the inferior turbinate produces striking long-term histologic changes. SIGNIFICANCE: The data suggest a differential response of turbinate histologic components to application of laser energy, with the glandular component being particularly sensitive. Further correlative study is needed to clarify the clinical significance of laser-induced histologic changes in inferior turbinates.

Complications of Acute Otitis Media and Sinusitis.

Otitis media and sinusitis are clinically identifiable infections of the middle ear and sinuses. Both conditions should be regarded as dynamic processes with a clinical spectrum, which may extend from a self-limiting condition to a prolonged and sometimes complicated disease. With the advent of antibiotics, the natural course of these diseases has changed significantly. Severe complications once characterized by high mortality and morbidity have become rare. This has led to a generation of general practitioners, otolaryngologists, and pediatricians trained in an atmosphere of complacency in the treatment of otitis media and sinusitis. However, several recent publications report an increasing incidence of serious complications associated with otitis and sinusitis, probably due to rising antibiotic resistance. A high index of suspicion, based on clinical grounds, is therefore warranted. The ultimate goal in the approach of these conditions is pharmacotherapeutic management, resorting to surgery for the restoration of function rather than for the eradication of the infectious disease. As new information becomes available on the etiology, pathogenesis, and bacteriology of these conditions, new strategies are being used to improve treatment and to prevent complications. These measures should include a more appropriate choice of antibiotics, the determination of the role of adjuvant therapy and surgical procedures, and the development of new vaccines.

Pharyngeal suspension suture with repose bone screw for obstructive sleep apnea.

OBJECTIVE: Multilevel surgery for obstructive sleep apnea syndrome (OSA) may improve success. This study's goal is to prospectively evaluate the feasibility and short-term subjective effectiveness of a new tongue-suspension technique. METHODS: A multicenter nonrandomized open enrollment trial used the Repose device to treat tongue obstruction in 39 snoring and OSA patients. Outcomes include 1- and 2-month subjective reports of general health, snoring, and sleep. RESULTS: Twenty-three patients completed 1 month and 19 completed 2 months of follow-up. In OSA patients, activity level, energy/fatigue, and sleepiness improved. Two-month outcomes were less (activity level, energy/fatigue, and sleepiness). Fewer changes were observed in snorers than in OSA patients. There were 6 complications (18%), including sialadenitis (4), gastrointestinal bleeding (1), and dehydration (1) after the procedure. CONCLUSION: A pharyngeal suspension suture changes subjective outcomes. Improvement is incomplete. The procedure is nonexcisional, but significant complications may occur. Further evaluation is required to demonstrate effectiveness.

Tongue-base suspension with a soft tissue-to-bone anchor for obstructive sleep apnea: preliminary clinical results of a new minimally invasive technique.

The Repose system is a new minimally invasive technique for tongue-base suspension in the treatment of sleep-disordered breathing caused by tongue-base collapse. It involves the insertion of a titanium miniscrew with attached suture into the anterior intraoral mandible and passing the suture through the tongue base. The procedure was performed in 16 patients with sleep-disordered breathing. Fourteen patients reported an improvement in daytime sleepiness, and their bed partners reported an improvement in snoring. The mean respiratory distress index before surgery was 35. Two months after surgery, the mean respiratory distress index was 17, an improvement of 51.4% (P = 0.001, 2-tailed t test). These preliminary results show the initial efficacy and safety of this new surgical procedure.

Subjective comparison of Nd:YAG, diode, and CO2 lasers for endoscopically guided inferior turbinate reduction surgery.

Lasers using different wavelengths and delivery systems have been used to reduce the inferior turbinate mass when hypertrophic inferior turbinates obstruct the nasal airway. Different laser systems produce different laser-tissue interactions. This study presents a comparison between three laser systems: CO2, Nd:YAG, and Diode lasers for inferior turbinate reduction surgery, all performed under endoscopic control. A total of 46 patients were randomized into three treatment groups and followed for more than 1 year. Subjective and objective data were collected. Subjective impressions of improved nasal airway was achieved in 41% (Diode), 47% (Nd:YAG) and 57% (CO2) and was not statistically significant. There was more postoperative bleeding in the CO2 laser group, with 3 patients requiring tamponade. The CO2 laser procedure also took longer to perform. These results failed to show a significant difference between the different lasers for inferior turbinate reduction. Overall, the results were not impressive.

Eosinophilic granuloma presenting as chronic otitis media: pitfalls in the diagnosis of aural polyps in children.

The case of a 7-year-old boy with multifocal eosinophilic granuloma, initially presumed to be chronic otitis media, is presented. A review of other similar cases in the literature reveals that a delay in diagnosis is not uncommon, and a high index of suspicion is necessary to avoid an unfavourable outcome. Early in the evaluation of an aural polyp, sufficient biopsies should be performed and computerized tomography scanning should be considered.

Axial configuration of the velopharyngeal valve and its valving mechanism.

The variability of the normal velopharyngeal (VP) closure mechanism was studied by investigating VP anatomy in relation to its closure mechanism in 60 patients. The axial configuration of the VP isthmus, as observed in axial CT scans at rest, was found to be correlated with VP function in terms of its closure patterns in speech as observed by nasendoscopy. A flat VP isthmus was found to be closed mainly in the anteroposterior direction, forming the coronal closure pattern. A deep VP isthmus is closed by movement of the velum and medial movement of the lateral pharyngeal walls, forming the circular closure pattern. A flat VP isthmus occurs when the hamuli are posteriorly located and the muscular slings, therefore, open more posteriorly. We conclude that posterior insertion of the velar muscles on to the skull base results in a flatter, larger VP axial configuration, whereas an anterior insertion results in a VP axial configuration that is deeper and less flat. A flat VP isthmus contracts mainly in an anteroposterior direction, exhibiting a coronal closure pattern, while a deep or round VP isthmus contracts centripetally, exhibiting a circular closure pattern. Variability of the VP valving mechanism is of anatomic and not of functional origin.

Experimental study of CO2 laser myringotomy with a hand-held otoscope and fiberoptic delivery system.

CO2 laser myringotomy has previously been proven effective in patients with serous otitis media for short-term aeration of the middle ear. However, the system based on a microscope and a coaxially aligned laser is cumbersome and expensive. The advantage of CO2 laser energy is the high absorption coefficient in biological tissue, meaning minimal damage surrounding the desired lesion. The disadvantage is that conventional optical fibers do not transmit CO2 laser energy (lambda = 10.6 microns). We have developed a silver halide optical fiber of diameter 0.9 mm and lengths of several meters, with high transmission at 10.6 microns. Using a hand-held otoscope coupled to a fiberoptic delivery system, CO2 laser myringotomies were performed in guinea pigs. In the animal model the feasibility of the procedure was proven. Different irradiation parameters were studied and a "dose-dependent" relationship was found between the total energy used and the duration of a patent myringotomy. However, conventional histological studies failed to show a difference in circumferential damage with different energy parameters. CO2 laser myringotomy utilizing a hand-held otoscope coupled to an optical fiber capable of transmitting CO2 laser energy may prove simple and effective. The relationship between energy parameters and myringotomy patency may be instrumental in deciding on the optimal duration of aeration of the middle ear in secretory otitis media.

Negative findings of esophagoscopy for suspected foreign bodies.

PURPOSE: Suspected impaction of esophageal foreign bodies may at times pose a diagnostic problem as to the decision to perform esophagoscopy. It is not unusual to perform a rigid esophagoscopy following a diagnostic work-up for an impacted foreign body and not to find one. This study attempts to delineate the clinical situations where negative esophagoscopies are more likely to occur. MATERIALS AND METHODS: In a retrospective analysis of 98 rigid esophagoscopies performed for suspected foreign bodies in our department, an attempt was made to delineate the clinical and radiologic findings characteristic of the patients who had no foreign body at esophagoscopy compared with the patients in whom a foreign body was found. RESULTS: Negative esophagoscopies were associated with suspected bone (mostly fish) impaction in 20 of the 22 negative esophagoscopies. Other parameters associated with negative findings were prolonged duration of symptoms and a positive finding at the physical examination. In suspected bone impaction, barium studies and neck x-rays were not helpful in determining the presence of a foreign body. CONCLUSION: Clinical history is the main indicator in the decision to perform esophagoscopy for suspected foreign bodies.

Immediate retinal adhesion by CO2 laser irradiation using a fiberoptic intraocular probe.

Using an experimental fiberoptically guided CO2 laser system, we produced lesions on fresh bovine retinas. These lesions were shown to achieve immediate measurable chorioretinal adhesion. This model provides preliminary data on the use of a fiberoptic CO2 laser probe to produce chorioretinal lesions and possible future use in intraocular surgery for retinal detachment. The advantages of using CO2 laser energy are minimal damage surrounding desired lesion and its versatility as a coagulator and cutter. With modifications, CO2 endolaser may have a role in intraocular surgery.