Folliculitis decalvans and lichen planopilaris phenotypic spectrum: a case series of biphasic clinical presentation and theories on pathogenesis

Folliculitis decalvans and lichen planopilaris have been considered two distinct cicatricial alopecias. However, biphasic presentation of folliculitis decalvans - lichen planopilaris in the same patient has been recently described, therefore raising the doubt if they are two distinct entities or a continuous phenotypic spectrum.We describe the case of a man who presented clinical, trichoscopic, and histopathological features of both entities. Moreover, we discuss current theories about the pathogenesis of the two diseases and their coexistence in the same patient. The recognition of similar cases allows to optimize the approach and treatment.

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Long-term outcomes of lumbar microdiscectomy in the pediatric population: a large single-institution case series

Journal of Neurosurgery Pediatrics ◽

10.3171/2019.6.peds18716 ◽

2019 ◽

Vol 24 (5) ◽

pp. 549-557

Author(s):

Malia McAvoy ◽

Heather J. McCrea ◽

Vamsidhar Chavakula ◽

Hoon Choi ◽

Wenya Linda Bi ◽

...

Keyword(s):

Conservative Management ◽

Functional Outcomes ◽

Pediatric Patients ◽

Clinical Presentation ◽

Case Series ◽

Csf Leak ◽

Single Institution ◽

The Mean

OBJECTIVEFew studies describe long-term functional outcomes of pediatric patients who have undergone lumbar microdiscectomy (LMD) because of the rarity of pediatric disc herniation and the short follow-up periods. The authors analyzed risk factors, clinical presentation, complications, and functional outcomes of a single-institution series of LMD patients over a 19-year period.METHODSA retrospective case series was conducted of pediatric LMD patients at a large pediatric academic hospital from 1998 to 2017. The authors examined premorbid risk factors, clinical presentation, physical examination findings, type and duration of conservative management, indications for surgical intervention, complications, and postoperative outcomes.RESULTSOver the 19-year study period, 199 patients underwent LMD at the authors’ institution. The mean age at presentation was 16.0 years (range 12–18 years), and 55.8% were female. Of these patients, 70.9% participated in competitive sports, and among those who did not play sports, 65.0% had a body mass index greater than 25 kg/m2. Prior to surgery, conservative management had failed in 98.0% of the patients. Only 3 patients (1.5%) presented with cauda equina syndrome requiring emergent microdiscectomy. Complications included 4 cases of postoperative CSF leak (2.0%), 1 case of a noted intraoperative CSF leak, and 3 cases of wound infection (1.5%). At the first postoperative follow-up appointment, minimal or no pain was reported by 93.3% of patients. The mean time to return to sports was 9.8 weeks. During a mean follow-up duration of 8.2 years, 72.9% of patients did not present again after routine postoperative appointments. The total risk of reoperation was a rate of 7.5% (3.5% of patients underwent reoperation for the same level; 4.5% underwent adjacent-level decompression, and one patient [0.5%] ultimately underwent a fusion).CONCLUSIONSMicrodiscectomy is a safe and effective treatment for long-term relief of pain and return to daily activities among pediatric patients with symptomatic lumbar disc disease in whom conservative management has failed.

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A national study of choanal atresia in tertiary care centers in Canada – part I: clinical presentation

Journal of Otolaryngology - Head and Neck Surgery ◽

10.1186/s40463-021-00517-x ◽

2021 ◽

Vol 50 (1) ◽

Author(s):

Josee Paradis ◽

Agnieszka Dzioba ◽

Hamdy El-Hakim ◽

Paul Hong ◽

Frederick K. Kozak ◽

...

Keyword(s):

Respiratory Distress ◽

Clinical Presentation ◽

Tertiary Care ◽

Choanal Atresia ◽

Case Series ◽

Retrospective Chart Review ◽

National Study ◽

Feeding Difficulties ◽

Presenting Symptoms ◽

Tertiary Care Centers

Abstract Background To evaluate the clinical presentation of choanal atresia (CA) in tertiary centers across Canada. Methods Multi-centre case series involving six tertiary care pediatric hospitals across Canada. Retrospective chart review of patients born between 1980 and 2010 diagnosed with CA at a participating center. Results The health charts of 215 patients (59.6% female) with CA were reviewed and included in this study. The mean age of patients at time of CA presentation was 0.4 months (range 0.1 to 7.2 months) for bilateral CA and 37.8 months (range 0.1 to 164.1 months) for unilateral cases. The most common presenting symptoms for bilateral CA in decreasing order were respiratory distress (96.4%), feeding difficulties (68.2%), and rhinorrhea (65.5%), and for unilateral cases in decreasing order were rhinorrhea (92.0%), feeding difficulties (24.7%), and respiratory distress (18.0%). For the majority of patients (73.2%), the obstruction comprised mixed bony and membranous tissue, with only 10.5% presenting with a purely membranous obstruction. Familial history of CA was confirmed in only 3.3% of cases. One half of patients with CA presented with one or more associated anomalies and 30.6% had a syndrome. Conclusions The present investigation is the first national multi-institutional study evaluating the clinical presentation of CA over three decades. The present cohort of CA patients presented with a breadth of co-morbidities with highly variable presentations, with bilateral cases being more severely affected than unilateral cases. Further investigation into hereditary linkages to CA development is warranted. Graphical abstract

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Atypical Clinical Presentation of Laryngopharyngeal Reflux: A 5-Year Case Series

Journal of Clinical Medicine ◽

10.3390/jcm10112439 ◽

2021 ◽

Vol 10 (11) ◽

pp. 2439

Author(s):

Jerome R. Lechien ◽

Stéphane Hans ◽

Francois Bobin ◽

Christian Calvo-Henriquez ◽

Sven Saussez ◽

...

Keyword(s):

Clinical Presentation ◽

Laryngopharyngeal Reflux ◽

Case Series ◽

Clinical Findings ◽

Aerodigestive Tract ◽

Common Disease ◽

Upper Aerodigestive Tract ◽

Suppurative Otitis Media ◽

Adequate Treatment ◽

Atypical Clinical Presentation

Background: Laryngopharyngeal reflux (LPR) is a common disease in otolaryngology characterized by an inflammatory reaction of the mucosa of the upper aerodigestive tract caused by digestive refluxate enzymes. LPR has been identified as the etiological or favoring factor of laryngeal, oral, sinonasal, or otological diseases. In this case series, we reported the atypical clinical presentation of LPR in patients presenting in our clinic with reflux. Methods: A retrospective medical chart review of 351 patients with LPR treated in the European Reflux Clinic in Brussels, Poitiers and Paris was performed. In order to be included, patients had to report an atypical clinical presentation of LPR, consisting of symptoms or findings that are not described in the reflux symptom score and reflux sign assessment. The LPR diagnosis was confirmed with a 24 h hypopharyngeal-esophageal impedance pH study, and patients were treated with a combination of diet, proton pump inhibitors, and alginates. The atypical symptoms or findings had to be resolved from pre- to posttreatment. Results: From 2017 to 2021, 21 patients with atypical LPR were treated in our center. The clinical presentation consisted of recurrent aphthosis or burning mouth (N = 9), recurrent burps and abdominal disorders (N = 2), posterior nasal obstruction (N = 2), recurrent acute suppurative otitis media (N = 2), severe vocal fold dysplasia (N = 2), and recurrent acute rhinopharyngitis (N = 1), tearing (N = 1), aspirations (N = 1), or tracheobronchitis (N = 1). Abnormal upper aerodigestive tract reflux events were identified in all of these patients. Atypical clinical findings resolved and did not recur after an adequate antireflux treatment. Conclusion: LPR may present with various clinical presentations, including mouth, eye, tracheobronchial, nasal, or laryngeal findings, which may all regress with adequate treatment. Future studies are needed to better specify the relationship between LPR and these atypical findings through analyses identifying gastroduodenal enzymes in the inflamed tissue.

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Case series on variable presentations of tuberculosis of the breast

BMJ Case Reports ◽

10.1136/bcr-2020-236019 ◽

2020 ◽

Vol 13 (12) ◽

pp. e236019

Author(s):

Tharun Ganapathy Chitrambalam ◽

Jeyakumar Sundaraj ◽

Pradeep Joshua Christopher ◽

Ramyasree Paladugu

Keyword(s):

Clinical Presentation ◽

Case Series ◽

Common Type ◽

Breast Abscess ◽

Breast Lump ◽

Clinical Presentations ◽

Malignant Lesions

Tuberculosis (TB) of the breast is extremely rare and is often mistaken for benign or malignant lesions of the breast. They are rare even in countries which are endemic for TB, like India. The most common type of clinical presentation is a vague lump in the breast, but there are even other types of presentations which are documented. In olden days, there was a lot of dilemma and challenge in diagnosing TB of the breast, but thanks to improved pathological knowledge and the advent of investigations such as QuantiFERON-TB gold and GeneXpert, TB can be diagnosed early nowadays and treated accordingly. In this study series, we report 10 cases of TB of the breast with variable clinical presentations as fibroadenosis, breast abscess, duct ectasia and breast lump on evaluation, and the challenges encountered in establishing the diagnosis.

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Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽

10.1007/s10048-021-00634-9 ◽

2021 ◽

Author(s):

Luca Magistrelli ◽

Roberta Croce ◽

Fabiola De Marchi ◽

Chiara Basagni ◽

Miryam Carecchio ◽

...

Keyword(s):

Autosomal Dominant ◽

Case Series ◽

Dominant Trait ◽

Autosomal Dominant Trait ◽

Phenotypic Spectrum ◽

Primary Familial Brain Calcification ◽

Psychiatric Disturbances ◽

Brain Calcification ◽

Uncertain Significance ◽

Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

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