scholarly journals Rare and unusual case of familial focal dermal hypoplasia (Goltz syndrome) presenting to otolaryngology in the UK

2019 ◽  
Vol 12 (12) ◽  
pp. e231809
Author(s):  
Alexander Freethy ◽  
Vikas Acharya ◽  
Aphrodite Iacovidou ◽  
Ali Taghi
Keyword(s):  
Lymphoid Hyperplasia ◽  
Sleep Apnoea ◽  
Barium Swallow ◽  
Management Options ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Obstructive Sleep ◽  
The Uk ◽  
Dominant Condition ◽  
Full Consideration

Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear–nose–throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.

Radiofrequency thermotherapy in the treatment of tongue base lymphoid hyperplasia: case report

2015 ◽  
Vol 129 (4) ◽  
pp. 398-402 ◽  
Author(s):  
T K Nicoli ◽  
S Gupta ◽  
B Kotecha
Keyword(s):  
Case Report ◽  
Voice Quality ◽  
Lymphoid Hyperplasia ◽  
Sleep Apnoea ◽  
Tongue Base ◽  
Reactive Lymphoid Hyperplasia ◽  
Dramatic Improvement ◽  
Sleep Study ◽  
Obstructive Sleep

AbstractObjective:This paper describes a case where a patient diagnosed with tongue base lymphoid hyperplasia was successfully treated with radiofrequency excision and interstitial radiofrequency-induced thermotherapy.Case report:A 53-year-old female presented with globus sensation, mild dysphagia, nocturnal breathing problems and ‘hot potato voice’ dysphonia. On flexible nasendoscopy, a visible tongue mass was seen to obstruct the posterior oropharynx. On magnetic resonance imaging scans, this mass looked suspicious of lymphoma, but on histology was confirmed to be benign reactive lymphoid hyperplasia. Sleep study findings indicated moderate obstructive sleep apnoea, with an apnoea–hypopnoea index of 18.1 events per hour. She was treated with radiofrequency-induced thermotherapy on three separate occasions.Results:A post-operative sleep study showed a dramatic improvement in the patient's apnoea–hypopnoea index (3.8 events per hour). This correlated well with the improvement in her sleep quality and reduction of snoring. Over the follow-up period, there has been sustained resolution of dyspnoea, with almost total restoration of voice quality.

scholarly journals Unilateral Tonsillar Hypertrophy in a 4-Year-Old Girl with Focal Dermal Hypoplasia (Goltz Syndrome)

2018 ◽  
Vol 32 (2) ◽  
pp. 43-46
Author(s):  
John Emmanuel L. Ong ◽  
Emmanuel Tadeus S. Cruz ◽  
Clydine Maria Antonette G. Barrientos
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Severe Obstructive Sleep Apnea ◽  
Gorlin Syndrome ◽  
Tonsillar Hypertrophy ◽  
Arterial Blood ◽  
Focal Dermal Hypoplasia ◽  
Goltz Syndrome ◽  
Obstructive Sleep ◽  
Tertiary Teaching

Objective: To report a case of unilateral tonsillar hypertrophy resulting in severe Obstructive Sleep Apnea in a 4-year-old girl with focal dermal hypoplasia (FDH, Goltz or Goltz-Gorlin) Syndrome. Methods: Design:           Case Report Setting:           Tertiary Teaching Hospital             Subject:          One Results: A 4-year-old girl with Goltz Syndrome (classical features of cutaneous and osteopathic disorders since birth) and unilateral tonsillar hypertrophy manifested with snoring and apneic episodes at two years of age. Polysomnography revealed severe Obstructive Sleep Apnea, and Arterial Blood Gases revealed metabolic acidosis with hypoxemia. A tonsillectomy and adenoidectomy improved breathing, appetite and sleep with resolution of snoring and apneic spells and final tonsil histopathology revealed lymphoepithelial polyp. Conclusion: A 4-year-old child with Goltz syndrome, who developed severe obstructive sleep apnea due to tonsillar hypertrophy was presented.  Otolaryngologists should be aware of this syndrome, which may manifest with oral and mucosal lesions.   Although rare, Goltz syndrome may be considered in the differential diagnosis of tonsillar hypertrophy especially in the presence of the inherent clinical features. Physicians should educate patients and address the co-morbidities associated with it through individualized treatment.     Keywords: Focal Dermal Hypoplasia, Unilateral Tonsillar Hypertrophy, Goltz Syndrome, Goltz-Gorlin Syndrome  

scholarly journals Beyond Usual Care: A Multidisciplinary Approach Towards the Treatment of Obstructive Sleep Apnoea

2022 ◽  
Vol 8 ◽  
Author(s):  
Miuni Athauda Arachchige ◽  
Joerg Steier
Keyword(s):  
Obstructive Sleep Apnoea ◽  
Upper Airway ◽  
Sleep Apnoea ◽  
Team Approach ◽  
Cpap Therapy ◽  
Management Options ◽  
Airway Patency ◽  
Obstructive Sleep ◽  
Increased Risk

Obstructive Sleep Apnoea (OSA) is common and characterised by repeated apnoeas and hypopnoeas while asleep due to collapse of the upper airway. OSA can have a significant impact on physical and mental health and, when left untreated, is associated with increased risk of developing cardiovascular ill health. Besides cardiorespiratory implications excessive daytime sleepiness, morning headaches, limited memory function and lack of concentration are some further symptoms caused by OSA. Continuous Positive Airway Pressure (CPAP) therapy is the evidence-based treatment to maintain upper airway patency in patients with moderate to severe OSA. Proper adherence to CPAP therapy successfully abolishes nocturnal apnoeas and hypopnoeas, and diminishes consequences of uncontrolled OSA, such as treatment resistant hypertension. However, long term adherence to CPAP remains an unresolved limitation of this method. Although alternatives to CPAP therapy may be less efficacious, there is a variety of non-CPAP treatments that includes conventional lifestyle advice, postural advice, the use of mandibular advancement devices (MADs), surgical treatment options, such as uvulopalatopharyngoplasty, tonsillectomy, or maxillomandibular advancement, and the use of electrical stimulation of the upper airway dilator muscles. Hypoglossal Nerve Stimulation is available as an invasive (HNS) and a transcutaneous (TESLA) approach. For the management of “difficult-to-treat” patients with OSA, particularly in those in whom first line therapy proved to be unsuccessful, a multidisciplinary team approach may be helpful to incorporate the available options of non-CPAP therapy and provide appropriate choices. Symptom control, patient-related outcome measures and long-term cardiovascular health should be prioritised when choosing long-term therapies to treat OSA. The inclusion of patients in the choice of successful management options of their condition will facilitate better long-term adherence. Advancing clinical trials in the field will further help to resolve the relative lack of evidence for effective non-CPAP methods.

scholarly journals An evaluation of sleep disturbance on in-patient psychiatric units in the UK

2018 ◽  
Vol 42 (5) ◽  
pp. 193-197 ◽  
Author(s):  
Sam Horne ◽  
Katherine Hay ◽  
Stuart Watson ◽  
Kirstie N. Anderson
Keyword(s):  
Environmental Factors ◽  
Sleep Quality ◽  
Sleep Disturbance ◽  
Sleep Apnoea ◽  
Poor Sleep ◽  
Sound Levels ◽  
Obstructive Sleep ◽  
Psychiatric Units ◽  
Environmental Causes ◽  
The Uk

Aims and methodSleep disturbance is common on in-patient psychiatry wards. This study explored subjective and objective patterns of sleep disturbance and contributory environmental factors. Participants were recruited from mental health acute admission wards and had a range of subjective and objective assessments of sleep. Light intensity and noise levels were measured to characterise potential environmental causes for poor sleep.ResultsWe recruited 20 patients; 15% were high risk for obstructive sleep apnoea. Nineteen participants reported poor sleep quality on the Pittsburgh Sleep Quality Index, and 90% had significant sleep fragmentation with objective measures. Inside light levels were low (day <200 lux and night <10 lux). Night sound levels were 40–90 db.Clinical implicationsSleep disturbance was highly prevalent. Increased awareness of sleep disorders is needed. Modifiable environmental factors on the ward were implicated, therefore increased awareness and a change of approach to sleep disturbance in in-patient psychiatry is recommended.Declaration of interestNone.

Complications of palatoplasty for snoring or sleep apnoea

1997 ◽  
Vol 111 (12) ◽  
pp. 1151-1154 ◽  
Author(s):  
W. C. Lee ◽  
D. W. Skinner ◽  
A. J. N. Prichard
Keyword(s):  
Obstructive Sleep Apnoea ◽  
Positive Airway Pressure ◽  
Response Rate ◽  
Sleep Apnoea ◽  
Sleep Study ◽  
Mortality And Morbidity ◽  
Obstructive Sleep ◽  
Life Threatening ◽  
The Uk ◽  
Significant Mortality

AbstractA questionnaire was sent to consultant Otolaryngologists (483) throughout the UK to identify any mortality associated with uvulopalatoplasty and other forms of palatoplasties for snoring and/or obstructive sleep apnoea. The response rate was 76.8 per cent (371). Six intra- and post-operative deaths were reported and four were known to have obstructive sleep apnoea. Life-threatening morbidity occurred in at least seven patients (three known apnoeic), two required immediate tracheostomy and two were managed in the intensive care unit. This suggests that the apnoeic patients undergoing palatoplasties experienced significant mortality and morbidity. Pre-operative sleep study should be performed in all snoring patients to identify the apnoeic subgroup. Continuous positive airway pressure, management of excessive obesity, elective tracheostomy and other strategies should be first considered before palatoplasties in these patients.

Latest trends in the assessment and management of paediatric snoring and sleep apnoea

2016 ◽  
Vol 130 (5) ◽  
pp. 482-489 ◽  
Author(s):  
S D Sharma ◽  
H Kanona ◽  
G Kumar ◽  
B Kotecha
Keyword(s):  
Pulse Oximetry ◽  
Obstructive Sleep Apnoea ◽  
Response Rate ◽  
Sleep Apnoea ◽  
Obstructive Sleep ◽  
Management Protocol ◽  
The Mean ◽  
The Uk ◽  
Telephone Questionnaire

AbstractObjective:To investigate the assessment and management of paediatric snoring and obstructive sleep apnoea in UK otolaryngology departments.Method:A telephone questionnaire survey of UK otolaryngology departments was conducted over a 16-week period.Results:The response rate was 61 per cent (85 out of 139 trusts). Use of pre-operative pulse oximetry was reported by 84 per cent of respondents, mainly to diagnose obstructive sleep apnoea (73 per cent) or stratify post-operative risk (46 per cent). Thirty-one per cent of respondents reported using post-operative pulse oximetry. Twenty-five per cent of respondents have a dedicated management protocol for paediatric obstructive sleep apnoea and snoring. Thirty-four per cent require prior clinical commissioning group approval before performing surgery. Fifty-eight per cent of respondents reported following up their obstructive sleep apnoea patients after surgery. The mean follow-up period (±standard deviation) was 6.8 ± 1.2 weeks.Conclusion:There is variation in the assessment and management of paediatric snoring and obstructive sleep apnoea across the UK, particularly in the use of pre- and post-operative pulse oximetry monitoring, and further guidelines regarding this are necessary.

Accuracy of clinical assessment of paediatric obstructive sleep apnoea in two English centres

2009 ◽  
Vol 123 (9) ◽  
pp. 1002-1009 ◽  
Author(s):  
E L Sproson ◽  
A M Hogan ◽  
C M Hill
Keyword(s):  
High Risk ◽  
Clinical Diagnosis ◽  
Obstructive Sleep Apnoea ◽  
Clinical Assessment ◽  
Sleep Apnoea ◽  
Diagnostic Process ◽  
Screening Guidelines ◽  
Risk Algorithm ◽  
Obstructive Sleep ◽  
The Uk

AbstractObjectives:To ascertain the sensitivity and specificity of clinical diagnosis of obstructive sleep apnoea in children, and to determine if a published clinical algorithm identifies those at high risk of post-adenotonsillectomy complications.Method:Sixty-seven children aged three to eight years underwent clinical assessment and overnight polysomnography.Results:Polysomnography detected a significant apnoea–hypopnoea index (i.e. ≥5, indicating significant obstructive sleep apnoea) in 13 (43 per cent) children with a clinical diagnosis of obstructive sleep apnoea and in six (19 per cent) children with no such diagnosis. The sensitivity of clinical assessment was 68.4 per cent and the specificity 59.5 per cent. The post-operative risk algorithm failed to identify any high risk children, although in actuality seven had severe obstructive sleep apnoea confirmed by polysomnography.Conclusions:This study of two English centres confirms that the clinical diagnostic process for obstructive sleep apnoea is reasonably insensitive and has low specificity. The studied algorithm discriminated poorly between children with and without severe obstructive sleep apnoea. Realistic diagnostic screening guidelines for paediatric sleep apnoea are overdue in the UK, where access to polysomnography is limited.

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