Saddle Nose Research Articles

Clinical and radiological assessment of rhinomaxillary syndrome in Hansen's disease.

Background More than four million people today live with Hansen's disease, and 200,000 new cases are diagnosed every year. Lifetime effects of Hansen's disease manifest as changes to bones of the face, hands and feet, resulting in physical impairment, secondary complications and facial changes that can be detrimental to quality of life, particularly among the elderly. Aims This study aimed to perform a detailed characterization of rhinomaxillary syndrome and its clinical manifestations in older persons treated in the past for Hansen's disease. Methods This was a cross-sectional study to characterize rhinomaxillary syndrome among older persons (age 60+ years) resident at Pedro Fontes Hospital, Cariacica, Espírito Santo, Brazil. Computed tomography images were examined with three-dimensional reconstructions to assess alterations to maxillofacial bones according to criteria for radiological rhinomaxillary syndrome. Participants were examined to assess facial alterations according to criteria for clinical rhinomaxillary syndrome. Results Rhinomaxillary syndrome was investigated in 16 participants (ten females and six males), median age 70 (range 60-89) years, age at diagnosis 20 (6-43) years and time since diagnosis 46 (26-70) years. Four participants fully met radiological rhinomaxillary syndrome criteria, four partially. All participants with full radiological rhinomaxillary syndrome presented with facial changes which met criteria for clinical rhinomaxillary syndrome, including "saddle nose" (loss of nasal dorsal height and shortened length of nose, due to cartilaginous and/or bone collapse), concave middle third of the face with sunken nose, maxillary retrognathia and inverted upper lip. Limitations Clinical histories were incomplete for some participants because records were lost at the hospital over time. Conclusion Until Hansen's disease is eliminated from endemic countries, persons affected will continue to present with rhinomaxillofacial alterations caused by Mycobacterium leprae infection. Clinical protocols for assessment and long-term care need to include otorhinolaryngological evaluation, mainly to prevent secondary complications. When rhinomaxillofacial bone changes are suspected, this evaluation should be supported by computed tomography imaging, if available.

Moderate and Major Saddle Nose; the Causes and Correction

Back ground: Saddle nose deformity is of different types and classifications, and there are several surgical approaches and grafting materials selected by the surgeons for the correction. Objective: Study the causes, surgical steps, and outcomes of correction of moderate and major saddle nose by the author using autologous iliac crest bone graft. Patients and method: A retrospective case study of 34 patients, with saddle nose, corrected by dorsal onlay graft and columella strut harvested from autologous iliac crest bone via endo-nasal approach rhinoplasty, at Salah-Elden governorate during period from Jan. 2008- Dec. 2015. Results: The common cause of saddle nose was septal abscess 16 patients (47%), nasal trauma 7 patients (20.6%), then congenital and iatrogenic causes. The cosmetic results all 34 patients (100%) get good results and satisfied for the patient‟s and the surgeon, with follow-up surgeon satisfaction were in 32 patients (94%). Functional improvement was (94.7%). Conclusions: 1.Autologous iliac crest bone graft is good graft material for augmentation of saddle nose deformity. 2. Optimum cosmetic outcomes achieved by doing osteotomies and in fracture of nasal bones, tip plasty, and alar base resection.3. The procedure used for graft taken from iliac crest bone is relatively safe with low complications.

Localized versus systemic granulomatosis with polyangiitis: data from the French Vasculitis Study Group Registry.

To describe the main features at diagnosis and evolution over time of patients with localized granulomatosis with polyangiitis (L-GPA) compared with those of systemic GPA (S-GPA). EULAR definitions of L-GPA, i.e. upper and/or lower respiratory tract involvement, and S-GPA were applied to patients from the French Vasculitis Study Group Registry. L-GPA and S-GPA patients' characteristics at diagnosis and long-term outcomes were analysed and compared. Among the 795 Registry patients, 79 (10%) had L-GPA. Their main clinical manifestations were rhinitis, lung nodules, sinusitis and otitis. L-GPA vs S-GPA patients at diagnosis, respectively, were younger, more frequently had saddle nose deformity or subglottic stenosis and were less often PR3-ANCA-positive. L-GPA vs S-GPA induction therapy less frequently included CYC but more often a combination of MTX and glucocorticoids; 64% of MTX-treated patients experienced disease progression within 18 months post-diagnosis. L- and S-GPA patients' estimated relapse-free-survival probabilities, relapse rates and refractory disease rates at each time point were comparable, but L-GPA patients had more frequent ENT and lung relapses, and higher overall survival rates (P<0.02). Over a median follow-up of 3.5 years, 18 (22.8%) L-GPA progressed to S-GPA, either as a relapse after a period in remission or more frequently in the context of refractory disease. L-GPA patients experienced more ENT-related damage. The relapse risks of L-GPA and S-GPA were similar, but relapse patterns differed and L-GPA overall survival rate was higher. About one-quarter of L-GPA patients developed S-GPA over time, but without end-stage organ involvement.

Congenital Cyst and Fistula of the Dorsum of the Nose: A Case Report and Literature Review

Congenital cyst and fistula of the dorsum of the nose is a rare congenital entity. We report a new case of dorsum nasal fistula in a 5 years old male patient that communicates the frontal region with the subcutaneous surface. Radiologic imaging showed a median 5mm defect, in the projection of the metopic suture that leads to a communication between the frontal region and the skin figure. Complete resection was performed by an external approach with vertical incision of the cyst. The histological diagnosis was consistent with a dermoid fistulized cyst. The follow-up displayed unremarkable finding, the patient did not present any diplopia nor decreased visual acuity, or any signs of meningitis or cerebrospinal fluid rhinorrhoea, or saddle nose.

Recurrent Fevers in a Boy Toddler with Dysmorphic Features and Hypodontia.

Recurrent Fevers in a Boy Toddler with Dysmorphic Features and Hypodontia.

Novel Mutation in the COL11A1 Gene Causing Marshall-Stickler Syndrome in Three Generations of a Bulgarian Family.

Here we report the first familial case spread through at least three generations, genetically verified cases of Marshall-Stickler syndrome in Bulgaria. The proband, a 2-year-old girl, has craniofacial dysplasia, ocular hypertelorism, small saddle nose with a flat bridge and midface hypoplasia. The pedigree of the proband’s family showed that her father has the same clinical manifestations of the disease. In addition, her father presented with a tall, thin stature and mild hearing loss, manifested with aging. The same dysmorphological symptoms were presented by the paternal grandfather. Both patients, the 2-year-old girl and her father, have been diagnosed to carry Marshall-Stickler syndrome. The COL2A1 gene tested negative in the family. Based on the higher percentage of mutations in the COL2A1 gene, we analyzed this gene as the first target in the family. The COL2A1 gene tested negative, and we sequenced the gene further. A novel splice site mutation c.3474+1G>A was found in intron 44. This variant is related to the clinical presentation in the patient and her father. The c.3474+1G>A mutation results in altered splicing affects at the donor splice site of intron 44, which most probably gives a nonfunctional protein. The variant affects the major triple-helical domain that represents a mutation hot-spot for the gene.

A Novel Septoplasty Technique for Patients With Nasal Fractures.

Nasal structures have both functional and cosmetic significance. These structures maintain the shape of the nose and regulate the nasal airflow. During trauma, fractures of the nasal bone are frequently associated with nasal septum deviations. This can lead to the nasal bone collapsing and nasal obstruction. The septoplasty technique is a major surgical intervention to improve nasal obstructions, with the submucosal resection of the deviated septum. In the past, septoplasty was deferred until the nasal bone fracture was healed to reduce the postoperative risk of saddle-nose and flat nose deformities. Advances in technology have enabled surgeons to attempt septoplasty together with a closed reduction of the nasal bone fraction. It is most important to preserve the septal support structure during surgery. Hence, we advocate that the nasal septum be reset in the midline rather than removed, by modified endoscopic septoplasty.

Rapid Palatal Expansion Should Not Be Trivialized: Two Case Reports of Unexpected Complications.

Rapid maxillary expansion is one of the most common orthodontic procedures performed in the pediatric population, easy to accomplish and compliance free, therefore really effective. Nevertheless, a careful diagnosis and frequent clinical follow-up appointments are necessary during the first weeks of active treatment. The purpose of this article was to report two cases of unexpected complications during orthopaedic maxillary expansion, involving two 7-year-old female patients, one presenting a saddle nose with suborbital hematoma and the other one an asymmetric palatal expansion. In both cases, the clinical situation progressively relapsed during the months following expansion appliance removal.

A novel surgical technique to correct caudal and high dorsal septal deviations: L-shape cutting and suturing on the septal L-strut (L-septoplasty).

ObjectivesIn general, deviation of the L‐strut of the nasal septum is more challenging to correct than the middle and has less favorable results. This study aimed to develop a technique to correct the L‐strut while preserving nasal support effectively and introduce the L‐septoplasty technique and its effects.MethodsPatients with caudal and high dorsal septal deviations who underwent the L‐septoplasty technique were retrospectively analyzed. Preoperative and three‐month postoperative comparative assessments included the Nasal Obstruction Symptom Evaluation (NOSE) scale and minimal cross‐sectional area (MCA).ResultsThirty patients seen at a tertiary care center were included. NOSE scale scores improved from 47.2 to 13.6, which was statistically significant (P < .001). MCA increased from 0.43 cm2 to 0.74 cm2 (P < .001). During the 3‐month follow‐up period, deviation correction was well maintained in all patients, and no surgical complications, such as saddle nose deformity, occurred.ConclusionThe L‐septoplasty technique is effective in simultaneously correcting caudal and high dorsal septal deviations without any complications.Level of evidence4.

Complications After Inadequate Treatment of Nasal Bone Fracture Combined With Septal Fracture: A Case Report

In treating a nasal bone, an incomplete nasal bone reduction can result in nasal deformity, both aesthetic and functional, requiring a secondary operation. A 60-year-old female with a traumatic comminuted nasal bone fracture with septal fracture was initially treated with closed reduction, which later resulted in a saddle nose and a completely occluded nasal cavity. Later, the patient underwent a revision operation of extracorporeal septorhinoplasty with rib cartilage graft, and the postoperative course was uneventful. Herein, we present a case of complications occurring after inadequate treatment of septal fracture. Physicians should thoroughly evaluate the extent of the nasal bone fracture, including the integrity of the nasal septum, and manage accordingly.

Visible disability as a presenting feature of leprosy: a rare but real concern in post-elimination phase in India

&lt;p class="abstract"&gt;Leprosy (Hansen's disease) is a chronic infectious disease caused by &lt;em&gt;Mycobacterium leprae&lt;/em&gt;, affecting mainly peripheral nerves and skin. Delayed diagnosis contributes to sensory-motor impairment leading to deformity and disability, thereby imposing a major impact on the physical, social, economic and psychological domains of the quality of life of affected individuals. Deformities and disabilities are largely preventable complications associated with tremendous social stigma and discrimination, assuming public health significance. India declared elimination of leprosy more than a decade and half ago in 2005. Hence, grade 2 disability is expected to be a rare manifestation in the post-elimination era. However, to the contrary, the proportion of new leprosy patients with visible disability recorded in India exceeds the global rate. Herein we report a middle-aged female presenting with saddle nose, bilateral fixed ulnar and mobile median claw hands (grade 2 disability) with multiple trophic ulcers. This case emphasizes that clinical suspicion after careful examination of skin and neural manifestations is of utmost importance for the early diagnosis of leprosy. Timely self-reporting and management with WHO-multi drug therapy (MDT) remains the key to minimize the risk of deformity and disability. Above all, it is essential to create awareness amongst the community regarding prompt recognition of symptoms and easy access to appropriate care along with intensified efforts to address the associated stigma.&lt;/p&gt;

Pediatric-onset refractory relapsing polychondritis with respiratory tract involvement

A 17-year-old, previously healthy girl presented with a 6-month history of hoarseness of voice, which progressed to stridor and difficulty breathing. Laryngoscopy at a local hospital showed vocal cord palsy and edema. Neck X-ray revealed narrowing of the subglottic region. Intubation with a 5 mm endotracheal tube was performed due to impending respiratory failure, and the patient was then transferred to a tertiary medical center. Upon admission, saddle nose (Fig. 1A) and erythematous change with tenderness over the left auricular region (Fig. 1B) were found.

Nasal septal hematoma in children: Time to diagnosis and resulting complications

ObjectivesTo determine the time from initial injury to diagnosis of nasal septal hematoma (NSH). Additional objectives included determining number of medical evaluations prior to diagnosis and long-term complications. MethodsA retrospective chart review was performed on all patients diagnosed with NSH at a tertiary pediatric hospital between January 1, 2003 and April 1, 2019 were identified. Time to diagnosis was defined as time between initial trauma to date of diagnosis. Number of evaluations was defined as all medical evaluations prior to diagnosis. ResultsOf 2762 charts that were reviewed, 13 patients with NSH were identified. Of those, 92% were male and trauma was the cause in 85% of patients. Median time to diagnosis was 7 days (0–21 days), with an average of 2.2 evaluations (1–4 evaluations). Settings where diagnosis were missed included EDs (N = 9, 82%), primary care (N = 6, 55%), urgent care (N = 1, 9%) and otolaryngology clinic (N = 2, 18%). Four patients (31%) were evaluated by an otolaryngologist in the ED. The median time to otolaryngology outpatient visit was 7.5 days. In five patients (46%), septal hematomas were missed in multiple clinical settings. Seven patients (54%) experienced complications, including saddle nose deformity (N = 3, 23%). ConclusionsNSH is a rare but serious emergency. To avoid multiple visits and delay in diagnosis, additional education and awareness is needed for providers who evaluate these patients. Early diagnosis will reduce the risk of abscess formation and saddle nose deformity.

Genetic study of a child carrying a maternally derived unbalanced 46,Y,der(X)t(X;Y)(p22;q11) chromosomal translocation

To explore the genetic basis for a child featuring short stature, saddle nose, cryptorchidism and mental retardation. The child and his parents were subjected to G-banded karyotyping and chromosomal microarray analysis (CMA). The child was found to have a 46,Y,der(X)t(X;Y)(p22;q11)mat karyotype. CMA has revealed a 8.3 Mb deletion at Xp22.33p22.31 and a 43.3 Mb duplication at Yq11.221qter. His mother had a karyotype of 46,X,der(X)t(X;Y)(p22;q11). His father had a normal karyotype. The child has carried an unbalanced translocation der(X)t(X;Y) (p22;q11) derived from his mother. His clinical phenotype has correlated with the size and position of X chromosome deletion. Compared with the females, abnormal phenotypes such as mental retardation and growth retardation of male carriers are more severe.

Four-Step Spreader Flap: The Pull-Twist-Turn Technique.

The spreader (or autospreader) flap offers an alternative to the traditional spreader graft in reconstructing the dorsal midvault and preserving internal valve function. This is of particular importance after an aggressive dorsal hump reduction, which has the potential to result in an inverted-V deformity, dorsal narrowing, or saddle-nose deformity. In this article, the authors describe a four-step spreader flap technique that offers a simple, reproducible method of shaping the dorsal midvault while preserving internal valve function.

A 38 Years Old Man with ANCA Negative Wegener’s Granulomatosis Vasculitis with Type 2 Diabetes Mellitus and Electrolyte Imbalance: A Case Report

A B S T R A C TBackground: Wegener's granulomatosis is a very rare long-term systemicdisorder, in which granuloma formation occurs and inflammation of bloodvessels (vasculitis). The cause of disorder is not yet known, but geneticfactors are thought to play an important role. Clinical symptoms are oftensimilar to other disorders, making diagnosis difficult. However, earlydiagnosis is very important in order to provide effective management.Objective: Diagnosis and management in a rare case of Wegener’sgranulomatosis vasculitis, especially it was found with other comorbidities.Methods: This case report showed a-38-years-old-man that came to theemergency room of Dr Moewardi Hospital with complaints of swellingaccompanied by redness and stiff on the face, hands and feet that worseningsince 7 days ago. He also complained of fever fluctuating, nasal congestionaccompanied by clear discharge and sometimes hearing loss in the rightear. Since the last 3 months, he was often experience similar complaints.History of diabetes was recognized by the patient for 5 years, but he did notregularly take medication. Results: In this case, examination of vital signswithin normal limits. Physical examination revealed a saddle nose with cleardischarge, swelling and redness around the face, hands and feet. Laboratorytests showed hemoglobin 12.9 g/dl, HbA1c 8.4%, sodium level 128 mmol/L,potassium level 3.1 mmol/L, calcium level 1.12 mmol/L. The Anti -Neutrophil Cytoplasmic Antibodies (ANCAs) and Anti Nuclear Antibody(ANA) Indirect Immunofluorescence (IF) method were negative.Electrocardiogram and chest x-ray examination within normal limits.Histopathological examination revealed epidermal atrophy and multiplegranulomas of the dermis. The patient underwent treatment for 10 dayswith tappering-off dose steroid, immunosuppressants, insulin, calcium,and potassium preparations therapy. Conclusions: Wegener’sgranulomatosis vasculitis is a rare case. Prompt and accurate diagnosis andmanagement will prevent poor progression of them, especially it was foundwith other comorbidities.

An Unusual Case of Nasal Septal Hematoma Caused by Local Dental Anesthesia in a 15-Year-Old Girl

Introduction: Nasal septal hematoma (NSH) is a complication of nasal trauma, which its emergency treatment is drainage of hematoma. Delayed treatment may result in necrosis of the nasal cartilage and saddle nose deformity. Case Presentation: Here, we reported a 15-year-old girl presented with NSH associated with a dental local anesthetic injection, which led to nasal septum necrosis. Conclusions: Computerized tomography (CT) scanning was performed to determine the hematoma size and existence of other complications.

Inferior Turbinate Bone Graft for Dorsal Augmentation in Rhinoplasty.

The most serious form of nasal dorsum pathologies is saddle nose deformity. Vary of nasal dorsal augmentation grafts were reported in the literature but inferior bone graft (ITBG) alone has not attracted attention. The ITBG has advantages such as easy and fast harvesting, easy to shape due to cancellous bone tissue. The graft technique is similar to the inferior turbinoplasty with the medial mucosal flap technique and can be performed without bioabsorbable hemostatic material (e.g. Turkish Delight), suture fixation, or without tissue adhesives. Major complications of the ITBG technique are injury of the posterior lateral nasal branch of the sphenopalatine artery and subdermal mucous cyst that developing on nasal dorsum. Since easy application, fast harvesting, and similar permanence to cartilage grafts as augmentation material, ITBG can also been used successfully in minor dorsal deficits in addition to saddle nose deformities.

Presentation of calcinosis cutis 35 years after silicone nasal implant reconstruction

A 63-year-old female patient with a history of congenital saddle nose deformity and two previous reconstructive rhinoplasties presented with a painful nodule, progressive swelling and mild redness on the nasal...

Thanatophoric Dysplasia

Background: The term tanatophorik comes from the Greek word thanatophorus which means "innate death" or "bearing death". The problem that underlies this disease is the process of bone formation. This disease is associated with an autosomal dominant inherited mutation of the fibroblast growth factor 3 receptor (FGFR3) gene on the arm of chromosome 4 (4p16.3). Because FGFR3 is the main modulator in bone formation, the typical clinical features of this disease include shortening of the extremities, curved femur, clover-like skull and narrowing of the thoracic cavity.Tanatophoric dysplasia is a skeletal disorder that is "lethal" or deadly. The deaths occurred due to respiratory failure caused by reduced chest cavity capacity, hypoplastic lungs and / or brainstem compression.Destination: Reported a case of thanatophoric dysplasiaMethod: Case Report Case Report: Case 33 years old woman, with preterm parturient G1P0A0H0 35-36 weeks 1 latent phase + history of 2x laparotomy + suspected fetal tanatophoric dysplasia. On ultrasound examination, it was found that BPD = 9.14 cm; AC = 30.56 cm; HC = 32.05 cm; FL = 2.55 cm; AFI; 9.06cm; SDAU = 1.72 cm. The presence of frontal bosing, saddle nose and micromilia (proximal, distal, phalanges) was found. The patient was planned for vaginal delivery and the progress of labor was followed. Patients provided informed consent regarding the possibility of fetal death during labor and after birth. During the active phase of the labor process, hypotony uterine innersia occurs and oxytocin drip is performed to accelerate labor. The baby was born male, weight 2175 grams, body length 34 cm and A / S: 1/0. Postmortem physical examination revealed macroscopic findings of tanatophoric dysplasia infants such as hypertelorism, low nasal bridge, cranio-facial disproportion. Narrow chest with protruding abdomen and short, bent limbs.Conclusion: Tanatophoric dysplasia is "lethal" skeletal dysplasia. Careful prenatal examination is required in diagnosis and termination of pregnancy. Keywords: Thanatophoric dysplasia, prenatal diagnosis