scholarly journals Sporadic Kerathoacantomas in Young Patients: A Case Series and a Proposed Diagnostic Algorithm

Author(s):  
A. Toll ◽  
D. Sitjas ◽  
D. Morgado-Carrasco ◽  
R.M. Pujol
Author(s):  
Feng Gao ◽  
Jiajian Wang ◽  
Junyi Chen ◽  
Xiaolei Wang ◽  
Yuhong Chen ◽  
...  

Abstract Purpose To investigate the etiologies and the clinical characteristics of angle-closure glaucoma (ACG) patients younger than 40 years old in Chinese. Methods Inpatients with diagnosis of ACG and diagnosed age younger than or equal to 40 years old, who were admitted in Eye, Ear, Nose, and Throat Hospital Fudan University from 2002 to 2017, were included in this retrospective non-comparative case series. The underlying causes and clinical features for all the patients were analyzed by comprehensive review of medical charts. Results A total of 298 patients (463 eyes) met the criteria, including 153 females (51.3%) and 145 males (48.7%); the mean age was 25.6 ± 13.0 years. Primary angle-closure glaucoma (PACG), uveitis, and anterior segment dysgenesis (ASD) were the top three etiologies in our patients, which accounted for 32.6%, 20.3%, and 15.1% of the total patients respectively. PACG mainly occurs after 30 years of age and ASD is the top reason of ACG in patients younger than 20 years old. Other known etiologies include iridocorneal endothelial syndrome, neovascular glaucoma, nanophthalmos, retinitis pigmentosa, spherophakia, bestrophinopathy, persistent fetal vasculature, iridociliary cysts, congenital retinoschisis, Marfan’s syndrome, retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, Coat’s disease, and neurofibromatosis. Conclusions We described the uncommon presentation of ACG in Chinese young patients. Although unusual, most of the etiologies could be identified. Therefore, more careful and comprehensive examinations are needed for early detection and timely treatment for young ACG patients.


2017 ◽  
Vol 38 (5) ◽  
pp. 485-495 ◽  
Author(s):  
Riccardo D’Ambrosi ◽  
Camilla Maccario ◽  
Chiara Ursino ◽  
Nicola Serra ◽  
Federico Giuseppe Usuelli

Background: The purpose of this study was to evaluate the clinical and radiologic outcomes of patients younger than 20 years, treated with the arthroscopic-talus autologous matrix-induced chondrogenesis (AT-AMIC) technique and autologous bone graft for osteochondral lesion of the talus (OLT). Methods: Eleven patients under 20 years (range 13.3-20.0) underwent the AT-AMIC procedure and autologous bone graft for OLTs. Patients were evaluated preoperatively (T0) and at 6 (T1), 12 (T2), and 24 (T3) months postoperatively, using the American Orthopaedic Foot & Ankle Society Ankle and Hindfoot (AOFAS) score, the visual analog scale and the SF-12 respectively in its Mental and Physical Component Scores. Radiologic assessment included computed tomographic (CT) scan, magnetic resonance imaging (MRI) and intraoperative measurement of the lesion. A multivariate statistical analysis was performed. Results: Mean lesion size measured during surgery was 1.1 cm3 ± 0.5 cm3. We found a significant difference in clinical and radiologic parameters with analysis of variance for repeated measures ( P < .001). All clinical scores significantly improved ( P < .05) from T0 to T3. Lesion area significantly reduced from 119.1 ± 29.1 mm2 preoperatively to 77.9 ± 15.8 mm2 ( P < .05) at final follow-up as assessed by CT, and from 132.2 ± 31.3 mm2 to 85.3 ± 14.5 mm2 ( P < .05) as assessed by MRI. Moreover, we noted an important correlation between intraoperative size of the lesion and body mass index (BMI) ( P = .011). Conclusions: The technique can be considered safe and effective with early good results in young patients. Moreover, we demonstrated a significant correlation between BMI and lesion size and a significant impact of OLTs on quality of life. Level of Evidence: Level IV, retrospective case series.


2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.


2021 ◽  
pp. 019459982110641
Author(s):  
Kevin Wong ◽  
Annie E. Arrighi-Allisan ◽  
Caleb J. Fan ◽  
George B. Wanna ◽  
Maura K. Cosetti ◽  
...  

Objective Acute mastoiditis is commonly attributed to infection. Rarely do clinicians encounter cases that do not respond to traditional antibiotics or surgical management. The goal of this study was to systematically review the literature to characterize diseases masquerading as acute infectious mastoiditis. Data Sources PubMed, Embase, and Scopus. Review Methods A systematic review was performed to identify all publications that reported on diseases with presentations mimicking acute mastoiditis, defined as postauricular redness, swelling, and tenderness. We included clinical prospective studies, retrospective studies, and case series/reports. Exclusion criteria included non-English articles, letters/commentaries, abstracts, and review articles. Results Out of 3339 results, 35 studies met final inclusion criteria. In children, 11 diseases were reported to mimic mastoiditis, including solid tumors, hematologic diseases, and autoimmune/inflammatory diseases. The most common disease in children was Langerhans cell histiocytosis, followed by rhabdomyosarcoma and acute myelogenous leukemia. In adults, 8 additional diseases were reported. The most common disease in adults was squamous cell carcinoma, followed by nasopharyngeal carcinoma and Langerhans cell histiocytosis. Presenting symptoms are reviewed, as well as characteristic radiographic, laboratory, and intraoperative features that may assist with diagnosis. A diagnostic algorithm for atypical cases of acute mastoiditis is proposed. Conclusion A small but significant group of diseases in children and adults can mimic acute mastoiditis. In such cases, history and examination alone may be insufficient to reach a diagnosis, and further investigation may be necessary. Otolaryngologists should always be mindful of the possibility that noninfectious pathologies may present with a constellation of symptoms similar to mastoiditis.


2021 ◽  
Vol 103-B (3) ◽  
pp. 584-588
Author(s):  
Mohammed Khattak ◽  
Sujith Vellathussery Chakkalakumbil ◽  
Robert A. Stevenson ◽  
David J. Bryson ◽  
Michael J. Reidy ◽  
...  

Aims The aim of this study was to determine the extent to which patient demographics, clinical presentation, and blood parameters vary in Kingella kingae septic arthritis when compared with those of other organisms, and whether this difference needs to be considered when assessing children in whom a diagnosis of septic arthritis is suspected. Methods A prospective case series was undertaken at a single UK paediatric institution between October 2012 and November 2018 of all patients referred with suspected septic arthritis. We recorded the clinical, biochemical, and microbiological findings in all patients. Results A total of 160 patients underwent arthrotomy for a presumed septic arthritis. Of these, no organism was identified in 61 and only 25 of these were both culture- and polymerase chain reaction (PCR)-negative. A total of 36 patients did not undergo PCR analysis. Of the remaining 99 culture- and PCR-positive patients, K. kingae was the most commonly isolated organism (42%, n = 42). The knee (n = 21), shoulder (n = 9), and hip (n = 5) were the three most commonly affected joints. A total of 28 cases (66%) of K. kingae infection were detected only on PCR. The mean age of K. kingae-positive cases (16.1 months) was significantly lower than that of those whose septic arthitis was due to other organisms (49.4 months; p < 0.001). The mean CRP was significantly lower in the K. kingae group than in the other organism group (p < 0.001). The mean ESR/CRP ratio was significantly higher in K. kingae (2.84) than in other infections (1.55; p < 0.008). The mean ESR and ESR/CRP were not significantly different from those in the 'no organism identified' group. Conclusion K. kingae was the most commonly isolated organism from paediatric culture- and/or PCR-positive confirmed septic arthritis, with only one third of cases detected on routine cultures. It is important to develop and maintain a clinical suspicion for K. kingae infection in young patients presenting atypically. Routine PCR testing is recommended in these patients. Cite this article: Bone Joint J 2021;103-B(3):584–588.


2009 ◽  
Vol 161 (5) ◽  
pp. 799-804 ◽  
Author(s):  
Juliet E Jennings ◽  
Marianthi Georgitsi ◽  
Ian Holdaway ◽  
Adrian F Daly ◽  
Maria Tichomirowa ◽  
...  

ObjectiveMutations in the aryl hydrocarbon receptor-interacting protein (AIP) were recently shown to confer a pituitary adenoma predisposition in patients with familial isolated pituitary adenomas (FIPA). We report a large Samoan FIPA kindred from Australia/New Zealand with an R271W mutation that was associated with aggressive pituitary tumors.Design and methodsCase series with germline screening of AIP and haplotype analyses among R271W families.ResultsThis previously unreported kindred consisted of three affected individuals that either presented with or had first symptoms of a pituitary macroadenoma in late childhood or adolescence. The index case, a 15-year-old male with incipient gigantism and his maternal aunt, had somatotropinomas, and the maternal uncle of the index case had a prolactinoma. All tumors were large (15, 40, and 60 mm maximum diameter) and two required transcranial surgery and radiotherapy. All three affected subjects and ten other unaffected relatives were found to be positive for a germline R271W AIP mutation. Comparison of the single nucleotide polymorphism patterns among this family and two previously reported European FIPA families with the same R271W mutation demonstrated no common ancestry.ConclusionsThis kindred exemplifies the aggressive features of pituitary adenomas associated with AIP mutations, while genetic analyses among three R271W FIPA families indicate that R271W represents a mutational hotspot that should be studied further in functional studies.


2018 ◽  
Vol 100-B (4) ◽  
pp. 443-449 ◽  
Author(s):  
J. H. Kalsbeek ◽  
A. D. P. van Walsum ◽  
J. P. A. M. Vroemen ◽  
H. M. J. Janzing ◽  
J. T. Winkelhorst ◽  
...  

AimsThe objective of this study was to investigate bone healing after internal fixation of displaced femoral neck fractures (FNFs) with the Dynamic Locking Blade Plate (DLBP) in a young patient population treated by various orthopaedic (trauma) surgeons.Patients and MethodsWe present a multicentre prospective case series with a follow-up of one year. All patients aged ≤ 60 years with a displaced FNF treated with the DLBP between 1st August 2010 and December 2014 were included. Patients with pathological fractures, concomitant fractures of the lower limb, symptomatic arthritis, local infection or inflammation, inadequate local tissue coverage, or any mental or neuromuscular disorder were excluded. Primary outcome measure was failure in fracture healing due to nonunion, avascular necrosis, or implant failure requiring revision surgery.ResultsIn total, 106 consecutive patients (mean age 52 years, range 23 to 60; 46% (49/106) female) were included. The failure rate was 14 of 106 patients (13.2%, 95% confidence interval (CI) 7.1 to 19.9). Avascular necrosis occurred in 11 patients (10.4%), nonunion in six (5.6%), and loss of fixation in two (1.9%).ConclusionThe rate of fracture healing after DLBP fixation of displaced femoral neck fracture in young patients is promising and warrants further investigation by a randomized trial to compare the performance against other contemporary methods of fixation. Cite this article: Bone Joint J 2018;100-B:443–9.


2020 ◽  
Vol 8 (8) ◽  
pp. 232596712094138
Author(s):  
Millicent Croman ◽  
Dennis E. Kramer ◽  
Benton E. Heyworth ◽  
Mininder S. Kocher ◽  
Lyle J. Micheli ◽  
...  

Background: Osteochondritis dissecans (OCD) of the knee is a relatively well-known condition, most commonly arising in the femoral condyle. Lesions arising in the tibial plateau are rarely described. Purpose: To present a case series of OCD lesions of the tibial plateau. Study Design: Case series; Level of evidence, 4. Methods: Medical records and diagnostic imaging of patients <20 years of age with confirmed diagnosis of OCD of the tibial plateau from a single institution were retrospectively reviewed. Characteristic and radiographic features as well as details of both nonoperative and surgical management were investigated. Lesion characteristics and treatment outcomes were also analyzed. Results: A total of 9 lesions were identified in 9 patients (5 females, 4 males) who fit the inclusion criteria. The mean age at diagnosis was 14.2 years (range, 9-17 years). Knee pain (8/9) of longer than 1 year in duration was the most common presenting symptom. All 9 lesions were located on the lateral tibial plateau, and concomitant lateral compartment pathology was present in 5 of 9 patients (4 lateral femoral condyle OCDs, 3 lateral meniscal tears [1 discoid], and 1 discoid meniscus). Only 2 lesions were visible on initial radiographs; all 9 were visible on magnetic resonance imaging. All patients underwent initial nonoperative treatment; 2 patients demonstrated resolution of symptoms. Two patients underwent surgery for concomitant pathology, and the OCD was not addressed surgically. A total of 5 patients continued to be symptomatic after nonoperative treatment, prompting surgical intervention, which consisted of microfracture and chondroplasty in all 5 cases. A total of 2 of the 5 microfracture patients had resolution of symptoms, while another 2 patients had continued symptoms ultimately responsive to steroid injection treatment. One patient had revision microfracture, followed by autologous chondrocyte implantation and an arthroscopic lysis of adhesions. At final follow-up, ranging from 7 months to 10 years, 8 patients were asymptomatic, while 1 patient had developed early osteoarthritis. Conclusion: OCD of the tibial plateau in young patients is rare, usually involves the lateral side, and may have significant long-term implications for knee function. Presenting symptoms are often vague, and lesions may not always be visible on initial radiographs, which may lead to delayed treatment and adversely affect outcomes.


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