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.     

Ultrastruktur der Epidermolysis bullosa acquisita

Summary Epidermolysis bullosa acquisita is a rarely occurring disorder which in contrast to the other types of epidermolysis bullosa is not hereditary. Epidermolysis bullosa acquisita is further distinguished by the following criteria: clinical lesions of epidermolysis bullosa dystrophica, onset of disease in adulthood, exclusion of other bullous diseases, and ultrastructural as well as immunopathological alterations. Skin lesions and for the first time lesions situated on the mucous membranes of the upper respiratory tract and esophagus were studied by light and electron microscopy and with immunofluorescence and immunoelectron microscopic methods. The results are discussed in terms of current immunological findings.     

Laryngotracheal involvement in epidermolysis bullosa

Epidermolysis bullosa (EB) is a rare hereditary skin disease of infancy that can involve the mucous membranes of the oral cavity. Laryngotracheal involvement is rare. The disease is characterized by bullae formation in response to minor trauma. There are at least 18 described types of EB, however, there are 3 basic categories. These are simplex (with disruption above the basement membrane), dystrophic (in which disruption is below the basement membrane), and junctional (in which the split is within the lamina lucida). The prognosis of the different types ranges from early death usually secondary to overwhelming sepsis, to long term survivals with lack of growth retardation or significant dystrophic scarring. Presently, survival appears to be the only reliable criteria for distinguishing the benign and lethal forms of EB. Airway obstruction secondary to laryngotracheal involvement should be considered in any child with epidermolysis bullosa presented with symptoms of respiratory distress. Because there are few predictive prognostic indicators in the neonatal period, tracheotomy should be considered early in an effort to prevent further laryngeal injury from intubation, in those patients that will survive.     

Junctional epidermolysis bullosa of the larynx. Report of a case and literature review.

Epidermolysis bullosa (EB) is a group of rare inherited disorders in which minor trauma causes blister formation in the skin and mucosa, including the esophagus. Morbidity varies with the type of disease and ranges from occasional trivial skin blisters to death in infancy. Laryngeal involvement presenting as hoarseness and respiratory distress has been reported in nine patients, five of whom had junctional EB. We present the sixth case of junctional EB with laryngeal involvement, and offer guidelines for otolaryngologists and anesthesiologists caring for these fragile patients.     

Head and neck complications of epidermolysis bullosa

Epidermolysis bullosa is a rare congenital skin disease which is characterized by easy formation of traumatic skin bullae. The disease is usually detected in early infancy due to the recurrent bullae. Prognosis is dependent on the histological variant which is present. A case of autosomal recessive epidermolysis bullosa is presented, which demonstrates many of the head and neck complications of the disease. Traditional skin care modalities as well as multiple surgical procedures such as skin grafts and the use of amniotic membrane were used without success. Limited natural healing, which was possibly promoted by oral phenytoin, has occurred.     

Ösophagusstenose bei Epidermolysis bullosa hereditaria

Zusammenfassung Gutartige Stenosen im oberen ?sophagus k?nnen im Gefolge anderer Erkrankungen entstehen. Eine seltene Ursache für die ?sophagusstenose stellen die blasenbildenden Hauterkrankungen dar, wie z.B. die Epidermolysis bullosa (EB), bei der bereits minimale L?sionen der Haut zu einer Blasenbildung führen. Im vorliegenden Fall wird ein Patient vorgestellt, der seit der Geburt unter einer EB simplex gelitten hatte. Im Erwachsenenalter waren die epidermalen Symptome zurückgegangen, w?hrend sich eine zunehmende ?sophagusstenose entwickelte. Wir behandelten die Stenose mit 2maliger Ballondilatation unter R?ntgenkontrolle und erreichten damit ein funktionell befriedigendes Ergebnis. Da bei Vorliegen einer EB mit einer erneuten Stenosierung gerechnet werden kann, empfehlen wir eine erneute Ballondilation im Falle eines Rezidivs.      

Complex rhinobronchial dystrophy and immunodeficiency: Chance association or exceptional congenital syndrome?

IntroductionWe report a case of an exceptional syndromic association of apparently congenital rhinobronchial dystrophy associated with congenital anosmia and common variable immunodeficiency in a twelve-year-old girl.Case summaryThis young girl, born in 2000, consulted for the first time in 2012 for recurrent respiratory tract infections, refractory to all forms of treatment, starting in early childhood, associated with congenital anosmia and severe atrophic rhinitis as well as common variable immunodeficiency. The laboratory work-up essentially revealed IgG4 deficiency and imaging demonstrated bronchiectasis (lingula), multiple tracheobronchial diverticula, atrophic rhinitis and congenital anosmia with agenesis of the olfactory bulbs and sulci.DiscussionAfter eliminating a number of differential diagnoses, we were left with the problem of the aetiology, the possible links between these various symptoms and the genetic basis for this apparently congenital complex rhinobronchial disease associated with common variable immunodeficiency. Do these various symptoms correspond to a chance association or an exceptional congenital syndrome that has not yet been identified in the literature?ConclusionA review of the clinical and genetic literature did not enable us to propose a single diagnosis for these symptoms or this complex syndrome.     

Bullous autoimmune diseases of the oral mucosa

Autoimmune bullous diseases (AIBD) are characterized by autoantibodies targeted against adhesion molecules, impairing their formation. According to localization criteria, pemphigus (intraepidermal blister and desmosomal involvement) and pemphigoid (subepidermal blister and dermoepidermal junction involvement) can be distinguished. In two-thirds of the cases, pemphigus vulgaris begins with oral lesions (mainly the buccal mucosa and palate, rarely the gingiva). Skin lesions are usual. Excepting paraneoplastic pemphigus (a recently individualized entity), oral lesions are uncommon in other types of pemphigus. Cicatricial pemphigoid mainly involves oral mucosa, frequently other mucous membranes, and rarely the skin. Gingival involvement is frequent. In case of desquamative gingivitis, the clip sign gives the diagnosis of cicatricial pemphigoid. Ocular involvement is frequent and causes blindness. Epidermolysis bullosa acquisita and IgA linear dermatosis are rare. Bullous pemphigoid and bullous lupus rarely involve the oral mucosa. Diagnosis of AIBD requires a biopsy within the mucosal membrane lesion for pathology examination and another biopsy in a lesion-free area for direct immunofluorescence detection of antibody fixation. Immunoelectron microscopy or immunoblast transfer may be needed for positive diagnosis. Corticosteroids are used to treat pemphigus and dapsone is used for cicatricial pemphigoid. Immunosuppressive therapy is rarely needed.     

Epidermolysis bullosa of the head and neck: a case report of laryngotracheal involvement and 10-year review of cases at the Hospital for Sick Children

OBJECTIVE: Epidermolysis bullosa (EB) involvement of the head and neck, particularly of the larynx, can represent a challenge to the otolaryngologist. In this article, we present a case report of an infant with laryngeal EB requiring tracheostomy. All cases of EB occurring over the past 10 years at The Hospital for Sick Children are reviewed, and the frequency and extent of head and neck involvement, including that of the larynx and trachea, is described. A review of current literature describing laryngeal EB is presented. METHOD: The charts of all patients diagnosed with EB from the period November 1986 to July 1997 were extracted and reviewed in detail. A literature review of reports of laryngeal EB over the past 20 years was completed via a Medline search. RESULTS: Sixteen cases of EB were identified and reviewed. These cases were categorized into the three major subtypes of EB: dystrophic EB, junctional EB, and EB simplex. Three cases of laryngotracheal involvement were reported, one within each subtype. In our literature review, only 18 cases of laryngotracheal EB have been documented in the past 20 years, and most of these were diagnosed with the junctional EB subtype. The overall prognosis for patients with junctional EB based on review of cases in our institution, as well as in our review of literature, was poor. CONCLUSIONS: The extent of EB involvement of the head and neck is variable, often depending on subtype. Laryngeal involvement with EB is very rare but of significance, since mortality within this group of patients is high, with death resulting most often from sepsis.     

Epidermolysis bullosa letalis in the larynx causing acute respiratory failure: a case presentation and review of the literature

The case history is presented of a 29-month-old boy with the characteristic skin lesions of epidermolysis bullosa letalis, requiring steroid therapy. After an episode of gastrointestinal haemorrhage, probably caused by the steroids, the child experienced progressive stridor and respiratory failure and died 10 days later. The postmortem findings in the larynx were of marked mucosal inflammation and cystic swelling of the serumucinous glands producing severe narrowing of the supraglottic airway. The laryngeal cysts were thus entirely different in nature to the cutaneous bullae.     

Laryngeal stenosis in epidermolysis bullosa dystrophica

Epidermolysis bullosa dystrophica is a rare hereditary skin disease of infancy in which minor trauma causes blister formation. We report a rare case of epidermolysis bullosa dystrophica (recessive) with a stenosis of the larynx due to epiglottic deformity. We performed a tracheotomy, and we detained a trachea aperture in the long term this time. In a characteristic of a disease though stimulation to the trachea causes the erosion on a trachea mucous membrane, postoperative course was uneventful and we are going to observe it in future.     

Correlation between presence of Leishmania RNA virus 1 and clinical characteristics of nasal mucosal leishmaniosis

IntroductionMucosal leishmaniosis (ML) is a severe clinical form of leishmaniosis. Complex factors related to the parasite and the host are attributed to the development of mucosal lesions. Leishmania RNA virus 1 (LRV1) can disrupt immune response, and may be the main determinant of severity of the disease; it should be investigated.ObjectiveTo study the existence of clinical differences between patients with ML with endosymbiosis by LRV1 and. those without it.MethodsA cross-sectional cohort study with clinical evaluation, polymerase chain reaction (PCR) detection of Leishmania, species classification, and search of LRV1 was performed. Only patients with confirmed diagnosis of ML by positive PCR and with nasal mucosa injuries were included in this analysis.ResultsOut of 37 patients, 30 (81.1%) were diagnosed with Leishmania braziliensis, five (13.5%) with Leishmania guyanensis, and two (5.4%) with mixed infection of L. braziliensis and L. guyanensis. LVR1 virus was present in 26 (70.3%) of the cases.ConclusionCorrelation between clinical phenotype and presence of LRV1 was not observed, although the frequency of the virus is two-fold higher in mucosal lesions than that found in the literature on skin lesions in the same geographical area.     

Sensorineural Hearing Loss in themdx Mouse: A Model of Duchenne Muscular Dystrophy

Sensorineural hearing loss has been identified in several types of muscular dystrophy, but few studies have investigated any relationship between Duchenne muscular dystrophy and hearing. An animal model of Duchenne muscular dystrophy, themdx mouse, exhibits the same genetic defect as humans. We performed brainstem auditory evoked responses on mdx and control mice in order to assess sensorineural hearing loss. The amplitude and latency of wave I for each animal were measured at increasing sound pressure levels. A significant increase in threshold and a decrease in wave I amplitude were found in the mdx mice. These results indicate that significant sensorineural hearing loss is associated with muscular dystrophy in the mdx mouse. Possible cellular mechanisms contributing to the hearing deficit are presented.     

Is there a relationship between middle concha bullosa and ethmoid roof asymmetry?

IntroductionThe middle turbinate and ethmoid roof are intranasal structures and may have many anatomical variations. These structures, which serve as anatomical markers during functional sinus surgery, are important for preventing complications and performing a proper surgery. Knowledge of anatomical variations will increase surgical success and reduce complications.ObjectiveWe aimed to investigate the presence of asymmetry in the ethmoidal roof and anatomical variation in patients with and without concha bullosa.MethodsIn this study, the files of patients who underwent paranasal computed tomography between 2012 and 2018 were analyzed retrospectively. The patients were divided into two groups, as patients with and without concha bullosa. Differences between the two groups in terms of age, gender, septum deviation, ethmoid artery dehiscence, ethmoid roof asymmetry were examined.ResultsThe 369 patients included in our study were divided into two groups; those with concha bullosa and those without concha bullosa. The mean age of the patients with concha bullosa was 36.1 ± 13.4 (min–max: 12–74) and the mean age of patients without concha bullosa was 37.5 ± 14.3 (min–max: 10–81). The ethmoid roof depths were compared between the two groups and a significant difference was observed (p < 0.001). The ethmoid roof depth was higher in the group with concha bullosa (p < 0.001).ConclusionThe results of our study indicate that the ethmoidal roof tends to be higher in patients with middle concha bullosa.     

Bedside evaluation of swallowing function to predict aspiration pneumonia in Duchenne muscular dystrophy

ObjectiveAspiration pneumonia is one of the leading causes of death in patients with muscular dystrophy; therefore, it is important to predict its occurrence in the clincal setting. We aimed to examine the usefulness of repeated saliva swallowing test (RSST), modified water swallowing test (MWST), and flexible endoscopic evaluation of swallowing (FEES) for evaluating the Hyodo score at the bedside, to predict the risk of aspiration pneumonia in patients with Duchenne muscular dystrophy (DMD).MethodsIn this retrospective cohort study involving 43 patients, we evaluated the swallowing function using the RSST, MWST, and FEES, and predicted the likelihood of aspiration pneumonia within 2 years after the assessment. The Hyodo score, a scoring system for evaluating the swallowing function determined by the FEES, was used.ResultsPneumonia was observed in 14 patients (32.6%). The RSST was not significantly useful for predicting the onset of pneumonia. The MWST was reported to have a cutoff value of < 4 points. Significantly more patients in the pneumonia group had an MWST score of < 4 points. The results revealed that the occurrence of pneumonia could be predicted based on a Hyodo cutoff score of ≥ 6. Significantly more patients in the pneumonia group had an MWST score of < 4 or a Hyodo score of ≥ 6.ConclusionsCombining MWST and FEES is useful for evaluating the bedside swallowing function and predicting the onset of pneumonia.     

泡性中鼻甲伴黏液囊肿1例报道并文献分析

目的 提高对泡性中鼻甲（CB）及中鼻甲黏液囊肿的认识和诊治水平。方法 报道1例CB伴黏液囊肿患者的临床资料并复习相关文献,随访患者术后恢复情况。结果 患者行鼻内镜下左侧CB外侧部分切除术,患者术后恢复好,鼻腔解剖结构清楚,鼻腔功能保留。结论 CB是一种常见鼻腔解剖变异,在患者出现相关症状就诊时发现或在健康体检中发现,其发展缓慢,症状多样,临床上容易漏诊、误诊。外科手术为其主要治疗方法,具体手术方式结合患者情况行个体化治疗。     

Assessing the efficacy of a modified crushing technique for the management of concha bullosa: a cone beam computer tomography study

IntroductionAlthough many surgical techniques exist to manage obstructive concha bullosa, there continues to be a drive to find the least invasive technique with the fewest complications and best results.ObjectivesThe purpose of this study is to describe and assess the short- and long-term efficacy of a modified crushing technique for concha bullosa management.MethodsPatients who met inclusion criteria underwent a detailed nasal examination and cone beam computed tomography imaging prior to and after septoplasty with crushing surgery for obstructive concha bullosa. Patients were divided into short- and long-term groups based on their followup period such that the short-term group had a mean followup of 15.14 months (range 6–22 months) and the long-term group had a mean followup of 56.66 (range 29–80) months.ResultsTwenty-four cases of obstructive concha bullosa were included in this study with 13 short-term and 11 long-term follow-ups. All patients showed a significantly decreased postoperative CB size (p < 0.001). There was no correlation between age and postoperative CB change in area (p = 0.39) and no significant difference in the amount of postoperative CB area reduction between the short-term and long-term groups (p = 0.35). No patients experienced bleeding, synechia, conchal destruction, or olfactory dysfunction on followup evaluations.ConclusionsOur modified crushing technique is a simple, effective, and lasting treatment option for concha bullosa. From our experience, there have been no complications and no instances of concha bullosa reformation during the follow-up period.     

Role of phosphorylcholine in Streptococcus pneumoniae and nontypeable Haemophilus influenzae adherence to epithelial cells

ObjectivePhosphorylcholine (PC) is a structural component of Streptococcus pneumoniae (Spn) and nontypeable Haemophilus influenzae (NTHi), and is known to be associated with adherence through the platelet activating factor receptor (PAF-R). Furthermore, high PC expression is considered to be involved in Spn and NTHi virulence. In this study, we examined the influence of PC expression on the adherence of Spn and NTHi to epithelial cells in order to clarify the potential effectiveness of a vaccine targeting PC.MethodsTwenty-seven strains of Spn and twenty-two strains of NTHi were used, cultured overnight, and PC expression was evaluated by fluorescence activated cell sorting; the strains were divided into two groups: PC low expression (PC-low) and PC high expression (PC-high) groups. Bacterial adherence was then examined using Detroit 562 cells and BALB/c mice. Bacterial invasion was then examined in Detroit 562 cells.ResultsThe adherence of Spn and NTHi and invasion of NTHi in the PC-high group was significantly reduced by pretreatment with a monoclonal anti-PC antibody (TEPC-15), PAF-R antagonist (ABT-491), and PC-keyhole limpet hemocyanin (PC-KLH). However, such findings were not observed in the PC-low group.ConclusionThe present study suggests that PC is involved in the mucosal adhesion of Spn and NTHi, and the mucosal invasion of NTHi with PC-high strains, but not PC-low strains. These results suggest that a PC-targeting mucosal vaccine only affects PC-high Spn and NTHi strains and does not disturb commensal bacterial flora in the upper respiratory tract, which comprises nonpathogenic PC-low bacteria.     

Lingual cyst lined by squamous epithelium

Lingual choristomas or foregut duplication cysts are infrequently reported congenital anomalies that typically present in the perinatal period, and can cause respiratory or feeding problems. These cysts are lined by epithelial cells characteristic of the upper aerodigestive tract. We describe two children who presented shortly after birth with lingual cysts lined with squamous epithelium and foci of respiratory epithelium. Unlike previously reported lingual choristomas, these cysts did not contain gastrointestinal epithelium. In both these cases, the lingual cysts were successfully excised via a transoral approach. This article will discuss the histological findings in these two cases, the differential diagnosis and attempt to classify these lesions in the context of existing terminology.