Linear porokeratosis is a rare variant of porokeratosis that is characterized by unilateral lesions along the lines of Blaschko. Like all variants of porokeratosis, linear porokeratosis is characterized by the histopathologic finding of cornoid lamellae bracketing the lesion. The underlying pathophysiology involves a two-hit post-zygotic knockdown of genes involved in mevalonate biosynthesis in embryonic keratinocytes. Although there is currently no standard or effective treatment, therapies targeted to rescue this pathway and restore keratinocyte cholesterol availability are promising. Presented here is a patient with a rare, extensive case of linear porokeratosis treated with compounded 2% lovastatin/2% cholesterol cream leading to partial resolution of the plaques.
Targeted therapy (BRAF/MEK inhibitors) is frequently employed in the treatment of metastatic melanoma following immune checkpoint inhibitor therapy inefficacy or intolerance. Although BRAF inhibitors are commonly associated with cutaneous eruptions, they rarely cause severe cutaneous adverse drug reactions such as drug-induced hypersensitivity syndrome (DIHS). Drug-induced hypersensitivity syndrome is a severe drug reaction characterized by extensive eruption often seen in conjunction with fever, facial edema, lymphadenopathy, eosinophilia, atypical lymphocytosis, and variable visceral organ injury characteristically beginning 2-8 weeks after initiating the causative drug. We report a case of atypical DIHS with reduced latency, mucosal involvement, lymphopenia, normal eosinophils, and no lymphadenopathy that occurred secondary to vemurafenib and cobimetinib therapy following melanoma progression while on pembrolizumab. Previous immune checkpoint inhibitor therapy has been associated with atypical DIHS in patients on BRAF/MEK inhibitors. Early recognition of the atypical clinical features of this hypersensitivity reaction is important so that drug discontinuation and corticosteroids can be initiated early.
Introduction: In patients with diabetic ketoacidosis (DKA), the American Diabetes Association guidelines support administering long-acting insulin (LAI) at the time of conversion from IV insulin to subcutaneous rapid acting insulin (RAI). Challenges with LAI timing in children may complicate this transition, and LAI may be administered earlier in the DKA course at some institutions. Limited evidence currently exists assessing the value of this early LAI administration while the patients are still in DKA. The purpose of this study was to assess the benefit and safety of early LAI in pediatric DKA. Methods: This single-center retrospective cohort study included patients < 21 years old admitted to the PICU in DKA on an IV insulin drip. Patients meeting inclusion criteria were divided into two groups: early LAI (administered >4 hours prior to conversion to RAI) and late LAI (administered within 2 hours of RAI). Each group was subdivided into DKA severity (moderate vs severe) and new onset vs known diabetes. The primary outcome of the study was to compare the time to DKA resolution, and secondary outcomes evaluated the total IV insulin doses received, and incidence of adverse effects and complications: hypoglycemia, hypokalemia, cerebral edema, and recurrence of DKA. Results: A total of 372 encounters were included in the preliminary assessment (224 in early LAI and 148 in late LAI groups). Baseline characteristics were similar between both groups. The time to DKA resolution was significantly longer (13 vs. 9.6 hours, p< 0.0001) and total dose of IV insulin significantly higher (65.7 vs. 44 units, p=0.0018) in the early LAI group. Rates of mild hypoglycemia and hypokalemia were significantly higher in the early LAI groups (33.5% vs. 21.6%, p=0.0134 and 42.4% vs. 14.2%, p< 0.0001, respectively). The trends in longer duration of DKA and rates of these adverse effects for the early LAI were also seen in the subgroups of new onset patients and with both moderate vs severe DKA. No differences were observed with severe hypoglycemia or hypokalemia, rates of cerebral edema or recurrence of DKA. Conclusions: Use of early LAI in pediatric DKA demonstrated no reduction in the time to resolution of DKA or total IV insulin dose regardless of severity of presentation, and increased risk of mild hypoglycemia and hypokalemia.
Abstract: Eccrine squamous syringometaplasia (ESS) is a benign metaplastic reaction of eccrine ducts that occurs in response to injury and can be a histologic mimic of squamous cell carcinoma (SCC). Reported is an 82-year-old man undergoing Mohs surgery for presumed SCC diagnosed in a field of radiation dermatitis. After 3 Mohs stages, the peculiar squamous proliferation was recognized as ESS and the procedure was aborted. Complicating the interpretation of the Mohs frozen section was the presence of perineural invasion because perineural invasion has not been previously reported to occur with ESS. The histologic features used to distinguish ESS from SCC are discussed.
Introduction: Inflammatory bowel disease (IBD) is complex, easily misdiagnosed and mismanaged. Multidisciplinary care improves patient outcomes. Yet, few hospitals have a multidisciplinary team approach to IBD care that consistently includes a gastrointestinal expert pathologist. This study aims to quantify the impact an expert pathologist has on a multidisciplinary team in the care of difficult IBD patients. Methods: A retrospective chart analysis was performed on patients (N = 283) discussed at the semi-monthly multidisciplinary IBD conference at Carilion Clinic, from June 1, 2013 through December 31, 2019. Each patient was presented between one and six times at the conference. Data collected: diagnosis before and after conference, reason for change in diagnosis, endoscopy findings, medications, surgeries, and if clinical remission was achieved within 6 months after conference. Results: Significantly, after the first conference, 42% of patients presented had a change in diagnosis: 84% due to expert pathologist interpretation, 12% due to radiology, and 4% due to other reasons. The majority of diagnostic changes after the second (73%), third (67%), and fourth (100%) conferences were also attributed to pathology (Table). Crohn disease was the most common new diagnosis after conference, and indeterminate colitis was the most commonly changed diagnosis. For patients whose diagnoses changed to ulcerative colitis after conference, most had moderate active colitis (54%), whereas for those who changed to Crohn disease, the severity of colitis was distributed similarly between none (22%), mild (26%), moderate (28%), and severe (24%). Approximately 24% to 35% of patients had a change in IBD medication after the first, second, and third conferences, among which ∼34% to 40% had a change in diagnosis. Following the conference, ∼17% to 20% of patients underwent surgical intervention, among which ∼12% to 27% had a change in diagnosis. A majority of these patients achieved clinical remission within 6 months of the conference. Conclusion: The majority of diagnostic changes made at the multidisciplinary IBD conference were due to histopathologic re-interpretation. A change in diagnosis at times led to significant modifications in disease management through surgery or medication changes. Multidisciplinary care teams are essential to the best management of difficult IBD patients. An expert gastrointestinal pathologist is a critical team member to the discussion of nuances of each patient’s case. Table 1. - Summary of Change in Diagnosis and the Reason that Diagnosis was Changed Change in Diagnosis Yes No Conference Number Total Pathology Radiology Other First (N=283) 119 (42.0%) 100 (84.0%) 14 (11.8%) 5 (4.2%) 164 (58.0%) Second (N=82) 26 (31.7%) 19 (73.1%) 6 (23.1%) 1 (3.8%) 56 (68.3%) Third (N=19) 3 (15.8%) 2 (66.7%) 1 (33.3%) 0 16 (84.2%) Fourth (N=7) 1 (14.3%) 1 (100.0%) 0 0 6 (85.7%) Fifth (N=2) 0 0 0 0 2 (100.0%) Sixth (N=1) 0 0 0 0 1 (100.0%)
Describe the preoperative decision-making, intraoperative electrocochleographic (ECoG) findings, and outcome of cochlear implantation (CI) in a patient with auditory neuropathy spectrum disorder (ANSD) and normal pure-tone thresholds.
Kaposi sarcoma (KS) is an intermediate vascular sarcoma that can cause significant morbidity and mortality in patients if left untreated. It is associated with human herpesvirus 8 (HHV-8) infection. Definitive diagnosis is supported by classic histopathology including slit-like vascular spaces, spindle cells, lymphocyte infiltration, and extravasated red blood cells on H&E stain and positive immunohistochemical (IHC) staining for HHV-8. We present a challenge we encountered in detecting HHV-8 by IHC in a mucosal lesion demonstrating classic histopathology for KS.
Abstract Objective(s) Present a clinically challenging case of an immunocompetent 74‐year‐old male who presented with marked dyspnea and hemoptysis. After the airway was secured, direct laryngoscopy revealed a large, fungating, hemorrhagic mass of the left lateral pharyngeal wall and surrounding structures. Methods Chart review of a single patient. This patient provided consent for his case materials and images to be used for educational purposes and publication. Results The clinical appearance of the mass was suspicious for an aggressive neoplasm. Initial biopsy of the mass was nonspecific, revealing necrosis and inflammation, but was negative for malignancy. Due to concern for bacterial supraglottitis, empiric treatment with antibiotics was initiated. Cultures were positive for Fusobacterium necrophorum . Repeat biopsy samples showed signs of underlying human simplex virus (HSV) infection, which was confirmed with polymerase chain reaction (PCR) testing. After addition of acyclovir, the patient began to improve clinically and was eventually decannulated. There was complete resolution of the mass at his 1‐month follow‐up. Conclusion HSV supraglottitis is a rare, rapidly progressive, and highly morbid condition. Lack of overt patient risk factors, frequently inconclusive biopsies, and clinical appearance mimicking other etiologies make diagnosis challenging. Superimposed bacterial infection is even less common and may contribute to increased disease severity and progression.
Multidisciplinary teams (MDT) aid the diagnosis and management of patients with inflammatory bowel disease (IBD) and improve patient outcomes. The direct impact of a gastrointestinal expert pathologist on MDT care of IBD patients is unknown.
