Pathognomonic Findings Research Articles

Epigenomic and phenotypic characterization of DEGCAGS syndrome.

Developmental Delay with Gastrointestinal, Cardiovascular, Genitourinary, and Skeletal Abnormalities syndrome (DEGCAGS, MIM #619488) is caused by biallelic, loss-of-function (LoF) ZNF699 variants, and is characterized by variable neurodevelopmental disability, discordant organ anomalies among full siblings and infant mortality. ZNF699 encodes a KRAB zinc finger protein of unknown function. We aimed to investigate the genotype-phenotype spectrum of DEGCAGS and the possibility of a diagnostic DNA methylation episignature, to facilitate the diagnosis of a highly variable condition lacking pathognomonic clinical findings. We collected data on 30 affected individuals (12 new). GestaltMatcher analyzed fifty-three facial photographs from five individuals. In nine individuals, methylation profiling of blood-DNA was performed, and a classification model was constructed to differentiate DEGCAGS from controls. We expand the ZNF699-related molecular spectrum and show that biallelic, LoF, ZNF699 variants cause unique clinical findings with age-related presentation and a similar facial gestalt. We also identified a robust episignature for DEGCAGS syndrome. DEGCAGS syndrome is a clinically variable recessive syndrome even among siblings with a distinct methylation episignature which can be used as a screening, diagnostic and classification tool for ZNF699 variants. Analysis of differentially methylated regions suggested an effect on genes potentially implicated in the syndrome's pathogenesis.

Spectrum of imaging findings of primary bone lymphoma in pediatric patients.

Primary bone lymphoma, a rare oncologic entity, may initially present with minimal symptoms. Presenting symptoms range from local pain and mild systemic symptoms to large palpable masses and pathologic fractures. The term "primary bone lymphoma" indicates the finding of bone involvement without other organ sites for at least 6months. Although some radiological features may raise suspicion about this tumor form, there are no pathognomonic imaging findings, and the diagnosis will likely be delayed for a long time. The most critical radiological feature is soft tissue involvement associated with a preserved cortical layer, much more than expected for an infiltrating lesion. Anyway, very different radiological findings may be displayed in patients with primary bone lymphoma. Although these radiological features of primary bone lymphoma have been discussed in the literature by various authors, there is little data concerning imaging in pediatric patients. This paper aims to depict the possible spectrum of imaging features of primary bone lymphoma in the pediatric age, providing an exemplification pictorial essay extracted from a single institution experience in the year range period 2006-2022.

Medial patellofemoral ligament injury. Location-based rate of recurrent patellar dislocation after non-operative treatment

ObjectivesThe role of the medial patellofemoral ligament (MPFL) as a patellofemoral joint stabilizing structure is undisputable. After traumatic patellar dislocation, MPFL injury, together with bone edema in the medial patellar facet and lateral femoral condyle, is a pathognomonic finding in magnetic resonance imaging (MRI). MPFL injury in the femoral insertion has been reported to most likely predict recurrent dislocations. The objective of this study was to detect if any MPFL injury location predicts the earliest onset of the patellar re-dislocation. MethodsIn total, 64 eligible patients with a first-time traumatic patellar dislocation were recruited to the trial. The diagnosis was confirmed within 3 weeks with 3T magnetic resonance imaging. The location of the MPFL injury in MRI was localized at the patellar insertion, midsubstance area, femoral insertion, or a combination of these. During the three-year follow-up period, patellar re-dislocations, range of motion, quadriceps muscle atrophy, and daily symptoms were determined. All the patients were treated non-operatively. ResultsOut of 64 patients, 33 (51.6%) had at least one episode of patellar re-dislocation. Re-dislocations occurred in 8 out of 25 (32.0%) patients with the main injury at the femoral insertion, 5 out of 15 (33.3%) patients with the main injury at the midsubstance area, and 10 out of 24 (41.7%) patients with the main injury at the patellar insertion during the 36 months follow-up (p ​= ​0.758). According to Kaplan–Meier analysis, the location of MPFL injury did not have any statistically significant effect on the timing of re-dislocations. At 36 months, survival of patients with MPFL injury at the patellar insertion was 70.8%, which was not statistically significantly different than the survival in patients with injury at the femoral insertion (88.0%) or at the midsubstance area (93.3%). No differences between single and multiple MPFL injuries were found. At 4 weeks, the range of motion was more restricted in patients with MPFL injury at the femoral insertion (93.4° vs. 108.0° for injury at the midsubstance area and 107.7° at the patellar insertion). ConclusionThe location of MPFL injury did not have any statistically significant effect on timing or the rate of re-dislocations. The MPFL injury at the femoral insertion predicts decreased range of motion (ROM) of the knee and increased quadriceps muscle atrophy during the first three months after sustaining injury. Level of evidenceLevel III.

The Pathognomonic ultrasonographic findings in fetus with COVID-19 infection

Aim: The main goal is to identify the pathognomonic sonographic signs for foetal SARS-CoV-2 infection and to determine whether or not transplacental SARS-CoV-2 transmission is possible. Patients and Methods: In total, 105 pregnant women with positive SARS-CoV-2 PCR swabs during the first trimester with mild or moderate infection without hospitalisation and/or oxygen support were included in this prospective comparative study, which was carried out at the ultrasound and foetal medicine unit of Ain Shams University Maternity Hospital from January 2021 to June 2023. The SARS-CoV-2 positive group was compared to the control group with inclusion and exclusion criteria. Results: In the COVID-19 group, pathognomonic ultrasonographic results were considerably more common. The COVID-19 group had a considerably higher frequency of placental calcifications and oligohydramnios. In the COVID-19 cohort, patients with positive pathognomonic ultrasonographic results had considerably higher BMIs. In the COVID-19 cohort, gestational age at infection, and BMI ≥30.0 kg/m2 were significant independent risk factors for the development of pathognomonic ultrasonographic abnormalities. Those in the control group who had positive pathognomonic ultrasonographic results were older and had higher rates of hypertension. Significant independent risk variables for the incidence of pathognomonic ultrasonographic findings in the control group included age ≥34.0 years and hypertension. Conclusion: There is no evidence of a teratogenic effect linked to maternal SARS-CoV-2 infection during the first few months of pregnancy. However, early pregnancy infection with COVID-19 is linked to pathognomonic ultrasonography findings of placental calcifications and oligohydramnios.

Case Series: Computed Tomography Features of Extraskeletal Osteosarcoma in Six Dogs.

The objective of the present case series was to investigate the various computed tomography findings of six dogs diagnosed with extraskeletal osteosarcoma (exOSA) at several locations. Among the tumors evaluated, four were subcutaneous, one was mammary, and one involved the intestinal tract. Intralesional mineralization was observed in all six dogs. Most of the tumors were moderately calcified, exhibited amorphous mineralization, and were heterogeneous on post-contrast imaging. Three of the tumors were peripherally enhanced, and regional lymphadenopathy was identified in two of the dogs, which was presumed to be metastatic. No lymph node calcification was reported. Although the presence of intralesional mineralization is not a pathognomonic finding, it was consistently identified in the present case series. Therefore, exOSA should be considered in the differential diagnosis when mineralization occurs in a mass unrelated to osseous structures.

Zebra Bodies in the Kidney: Is it a Pathognomonic Finding of Fabry Disease?

Zebra bodies are intralysosomal lamellar inclusion bodies. It is accepted as a specific feature of Fabry disease. However, it has been reported in many hereditary and acquired conditions. We are reporting Zebra bodies in the kidneys of cases with Rheumatoid Arthritis and hydroxychloroquine-induced phospholipidosis. Case 1: A 55-year-old male presented with hypertension and renal dysfunction. Serum ANA and anti-CCP antibodies were positive. A kidney biopsy revealed chronic tubulointerstitial nephritis with Zebra Bodies in the podocytes. Genetic analysis was negative for Fabry disease. Case 2: A 34-year-old female with Systemic Lupus Erythematosus on Hydroxychloroquine for a year presented with subnephrotic proteinuria. Serum ANA and anti-dsDNA antibodies were positive. Electron microscopy showed lamellated osmiophilic inclusion bodies in the tubular and visceral epithelial cells. Thus, Zebra bodies are not pathognomonic for Fabry disease and Rheumatoid Arthritis should also be considered in the differential diagnosis, particularly if family or drug history is negative.

Non-Wilms renal tumors: Twenty years experience in a referral center

BackgroundNon-Wilms Renal Tumors (NWRT) constitute less than 10% of all renal tumors diagnosed in childhood. We studied our experience in the diagnosis and management of these tumors to compare our results with the current literature. Study designThis is a retrospective observational study which includes all patients aged 0-18 years with histopathological diagnosis of NWRT treated in our center during the period 2000-2022. ResultsWe identified 10 patients with diagnosis of: cystic nephroma(3), congenital mesoblastic nephroma(1), renal cell carcinoma(2), clear cell sarcoma of the kidney (2), renal Ewing's sarcoma(1) and malignant rhabdoid tumor of the kidney(1). Sixty percent (60%) were female. The median age at diagnosis was 3.25 years (IQR 1.5-10). Median age at diagnosis excluding CN was 6 years old (IQR 2.62-10.75). Molecular alterations were detected in 60% of the cases. Hematuria (40%) and palpable abdominal mass (40%) were the most frequent presenting symptoms. In total, 62.5% patients were misdiagnosed during the preoperative period as Wilms' tumor (WT), based on imaging data. A Radical nephroureterectomy was performed in all cases and staging lymphadenectomy in 70%. We recorded a major complication in one patient, who suffered a contralateral lower renal pole infarction due to section of a polar vessel during surgery. This patient had no preoperative vascular study. The recurrence-free survival rate was 90% with a median follow-up of 6.4 years (IQR 2-13.9). DiscussionRadiological imaging has fundamental importance in the diagnosis of renal tumors, especially to identify children who might benefit from initial surgical treatment or the indication of biopsy for preoperative histopathological confirmation before initiating cytotoxic treatment. However, there are no pathognomonic imaging findings that clearly differentiate between WT and other renal tumors, nor among the heterogeneous group of NWRT[3]. In our series, 62.5% of patients were misdiagnosed as WT based on imaging features.We found different molecular alterations in 60% of our patients (Table 1). None of them predispose to the development of bilateral tumors nor correlates with predisposing syndromes of metachronous tumors.Apart from its retrospective design, this study is limited by small number of cases and a long study period. ConclusionsCorrect differential diagnosis of NWRT is necessary for an adequate therapeutic approach. The molecular-genetic profile is an important step in the diagnosis of NWRT that allows for the use of targeted therapies in refractory patients. Detailed anatomical study by vascular mapping minimizes the risk of iatrogenic damage during tumor resection.

Transarterial Embolization of Intracranial Dural Arteriovenous Fistulas Cognard Type V With Direct Drainage Into the Perimedullary Veins: Case Report and Literature Review.

Cognard type V fistula (CVF) is a rare type of dural arteriovenous fistula characterized by spinal perimedullary venous drainage. Owing to the lack of pathognomonic findings, misdiagnosis is common. Patients often undergo multiple spinal angiograms negative for spinal vascular malformations. Digital subtraction angiography is the gold standard diagnostic tool. The preferred treatment option is endovascular management with embolization through a transarterial, transvenous, or combined approach. Other options include open surgery, stereotactic radiosurgery, or a combination of both. The patient from case # 1 presented with progressive weakness and hypoesthesia in the bilateral lower extremities, with urinary and bowel incontinence. The DSA identified a CVF fed by the meningohypophyseal trunk and a draining perimedullary vein. Embolization with 0.1 ccs of Onyx-18 was performed with complete fistula occlusion. The patient from case # 2 developed bilateral lower extremity weakness, diffuse numbness, and urinary incontinence. The DSA showed a CVF fed by tributaries from the ascending pharyngeal artery and posterior meningeal artery branches of the V3 segment, draining into a perimedullary vein. Embolization with 0.3 cc of Onyx-18 was performed with 100% occlusion of the fistula. A 1-year follow-up angiogram confirmed complete fistula occlusion. Both patients consented to the procedure. Even if a patient only presents symptoms of myelopathy, CVF should be considered. Herein, we present 2 cases of CVF with direct drainage into the perimedullary veins which presented exclusively with myelopathy syndrome and describe treatment with trasarterial embolization with Onyx.

When Educational Images Don't Reflect the Population: Phlegmasia Cerulea Dolens, a Case Report.

Phlegmasia cerulea dolens (PCD) is an uncommon, potentially life-threatening complication of acute deep venous thromboses that requires a timely diagnosis. The name of the condition, the visual diagnostic criteria, and the preponderance of cases in the literature referencing findings exclusively in patients with lighter skin complexions means that PCD may not be on the differential diagnosis for the patient with more melanated skin who is experiencing this time-sensitive vascular emergency. We describe one case of PCD in a patient with darker skin complexion and the importance of identifying clinical findings, regardless of skin color, given the paucity of reference images for PCD in darker complected patients. Our literature review yielded 60 case reports for PCD. Only two papers included images referencing patients of color. Accurate diagnosis requires recognition of diagnostic findings, which may vary significantly between phenotypically distinct populations. Many pathognomonic physical exam findings rely on descriptors based on presentation in phenotypically white patients.

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.

Biallelic SORD mutations cause one of the most frequent forms of recessive hereditary neuropathy, estimated to affect ∼10 000 patients in North America and Europe alone. Pathogenic SORD loss-of-function changes in the encoded enzyme sorbitol dehydrogenase result in abnormally high sorbitol levels in cells and serum. How sorbitol accumulation leads to peripheral neuropathy remains to be elucidated. A reproducible animal model for SORD neuropathy is essential to illuminate the pathogenesis of SORD deficiency and for preclinical studies of potential therapies. Therefore, we have generated a Sord knockout (KO), Sord-/-, Sprague Dawley rat, to model the human disease and to investigate the pathophysiology underlying SORD deficiency. We have characterized the phenotype in these rats with a battery of behavioural tests as well as biochemical, physiological and comprehensive histological examinations. Sord-/- rats had remarkably increased levels of sorbitol in serum, CSF and peripheral nerve. Moreover, serum from Sord-/- rats contained significantly increased levels of neurofilament light chain, an established biomarker for axonal degeneration. Motor performance significantly declined in Sord-/- animals starting at ∼7 months of age. Gait analysis evaluated with video motion-tracking confirmed abnormal gait patterns in the hindlimbs. Motor nerve conduction velocities of the tibial nerves were slowed. Light and electron microscopy of the peripheral nervous system revealed degenerating myelinated axons, de- and remyelinated axons, and a likely pathognomonic finding-enlarged 'ballooned' myelin sheaths. These findings mainly affected myelinated motor axons; myelinated sensory axons were largely spared. In summary, Sord-/- rats develop a motor-predominant neuropathy that closely resembles the human phenotype. Our studies revealed novel significant aspects of SORD deficiency, and this model will lead to an improved understanding of the pathophysiology and the therapeutic options for SORD neuropathy.

Long-term outcome of percutaneous endovascular stenting in external iliac artery endofibrosis.

External iliac artery endofibrosis (EIAE) is a rare vascular disease which has been traditionally seen in avid cyclists. The conventional approach has been surgery, although no high-quality evidence suggests superiority of surgery over percutaneous endovascular intervention. There are limited data on the efficacy of stenting in EIAE. Over a 14-year period, we treated 10 patients (13 limbs) with EIAE with stents. These patients had declined surgery. The mean follow up was 8.4 ± 3.3 years. There were eight women. Five patients were competitive runners, three were cyclists, and two were triathletes. The mean age was 40.7 ± 2.9 years and body mass index was 19.46 ± 1.6. Intravascular ultrasound (IVUS) was used in eight limbs. Procedural success was achieved in all. The recurrence of symptoms occurred in three patients at a mean of 9.3 ± 2.1 months postindex intervention. The other seven patients remained symptom free. IVUS revealed a pathognomonic finding which we termed 'perfect circle appearance'. It results from symmetric or asymmetric hypertrophy of one or more layers of the arterial wall leading to negative remodeling, which creates a distinct echo dense structure contrasting itself from the luminal blood's echoluscent appearance. It is identical to IVUS images of diffuse venous stenosis with important implications in the treatment technique. We conclude that stenting in EIAE is safe and effective with a good long-term outcome. It can be an alternative to surgery, particularly in those patients who refuse a surgical approach. The IVUS image is pathognomonic and 'sine qua non' of EIAE.

The genetics of autosomal dominant familial hypercholesterolemia.

Familial hypercholesterolemia (FH) is one of the most common genetic conditions. Affected individuals are unable to metabolize cholesterol due to inherited changes in the low-density lipoprotein (LDL) receptor, which impairs the ability to metabolize cholesterol, resulting in extremely high levels of cholesterol that leads to premature coronary artery disease. Autosomal dominant FH is caused by variants in several genes, which may present as heterozygous FH (less severe) or homozygous FH (more severe). Clinical diagnosis may be more likely when there is a family history of two or more first-degree relatives with total and LDL-cholesterol (LDL-C) level elevations, a child is identified, or the affected individual or close relatives have tendon xanthomas and/or progressive atherosclerosis. This article provides an overview of autosomal dominant FH, including disease prevalence, clinical diagnostic criteria, genetic variants, diagnostic testing, pathognomonic findings, and treatment options. It also shares a brief case, which highlights challenges associated with genetic test interpretation and the importance of including experienced providers in the diagnosis and treatment of this underdiagnosed and often untreated or undertreated genetic condition.

A 15-year review of lightning deaths in Germany—with a focus on pathognomonic findings

Lethal accidents caused by lightning are divided into observed and unobserved events. Pathognomonic or characteristic findings are often overlooked during external postmortem examination. Classical mistakes may be made which may often lead to an incorrect diagnosis. An analysis of 270 fatalities was performed on a historical collection of the Committee for Lightning Conductor Construction for the United Economic Area e. V. (ABBW) on lethal accidents due to lightning that occurred in Germany for the period 1951–1965. Furthermore, a selective literature research was carried out. The aim of the study was to analyze the death scene, the clothing, and the victim. The authors focused on chief findings which were relevant to the correct diagnosis of “death by lightning.” Both Lichtenberg figures and singed body hair were considered pathognomonic for a lightning strike. The question arose as to whether Lichtenberg figures, for example, represented the finding that most often led to the correct diagnosis. Of the 270 lightning-struck victims from the case collection, 129 (47.8%) had singed body hair and 25 (9.3%) had Lichtenberg figures. A comparison of the frequency of the two reported findings, singed body hair versus Lichtenberg figures, has only been performed in the literature for case numbers below 40. This study is the first evaluation of a relatively large number of lethal accidents due to lightning. Singed body hair was reported more frequently in lightning-struck victims than Lichtenberg figures. This study showed that singed body hair is probably more diagnostically important than Lichtenberg figures.

Knot-and-ear sign: a pathognomonic ultrasonographic feature of suture granuloma after thyroid surgery.

This study investigated the clinical and ultrasonographic (US) findings of suture granulomas and recurrent tumors, and aimed to identify specific characteristics of suture granulomas through an experimental study. This retrospective study included 20 pathologically confirmed suture granulomas and 40 recurrent tumors between January 2010 and December 2020. The clinical findings included suture material, surgery, and initial TNM stage. The US findings included shape, size, margin, echogenicity, heterogeneity, vascularity, and internal echogenic foci. The distribution, paired appearance, and "knot-and-ear" appearance of internal echogenic foci were assessed. An experiment using pork meat investigated the US configuration of suture knots. Eighteen patients with 20 suture granulomas (15 women; mean age, 52±13 years) and 37 patients with 40 recurrent tumors (24 women; 54±18 years) were included. Patients with suture granulomas exhibited earlier initial T and N stages than those with recurrent tumors. The knot-and-ear appearance, defined as an echogenic dot accompanied by two adjacent echogenic dots or lines based on experimental findings, was observed in 50% of suture granulomas, but not in recurrent tumors (P<0.001). Central internal echogenic foci (68.8%, P=0.023) and paired appearance (75.0%, P<0.001) were more frequent in suture granulomas. During follow-up, 94.1% of suture granulomas shrunk. The knot-and-ear appearance is a potential pathognomonic finding of suture granuloma, and central internal echogenic foci with paired appearance were typical US features. Clinically, suture granulomas showed early T and N stages and size reduction during follow-up. Understanding these features can prevent unnecessary biopsy or diagnostic surgery.

Multiple Diagnoses of Nutritional Rickets in An Inner-City Pediatric Population: A Case Series

This case series details seven pediatric cases of nutritional rickets in an inner-city population of New Jersey. Eighty six percent of these patients were exclusively breast fed, and all self-identified as black or African American. Patients ranged in age from 8 months to 3 years at the time of initial diagnosis. All seven patients were male. Five patients were presented in an office setting, while two were found to have nutritional rickets in an emergency setting. Patients demonstrated classic pathognomonic findings of rickets, including three patients with rachitic rosary. The aim of this case series is to emphasize the importance of surveillance and high clinical suspicion for nutritional rickets, particularly in children with darker skin complexions and who were exclusively breast-fed during infancy. Rapid diagnosis and intervention may delay or negate the need for orthopedic surgical intervention.

Takayasu arteritis - a case report of neurological clinical manifestation in an elderly patient

Takayasu Arteritis is a chronic granulomatous inflammatory arteriopathy that affects the aorta and its main branches, leading to arterial stenosis and sometimes thrombosis, with the left subclavian artery being the most frequently involved. Clinical manifestations are insidious, nonspecific, and variable, depending on the arterial territory affected, without any pathognomonic finding. It is a rare disease, with an annual incidence of 2.6 cases per million people, being more common in Southeast Asia and affecting predominantly women, especially at reproductive age. However, it is believed that this disease is underdiagnosed, especially in the most advanced age groups.

Behavioral and histological analyses of the mouse Bassoon p.P3882A mutation corresponding to the human BSN p.P3866A mutation.

Tauopathy is known to be a major pathognomonic finding in important neurodegenerative diseases such as progressive supranuclear palsy (PSP) and corticobasal degeneration. However, the mechanism by which tauopathy is triggered remains to be elucidated. We previously identified the point mutation c.11596C > G, p.Pro3866Ala in the Bassoon gene (BSN) in a Japanese family with PSP-like syndrome. We showed that mutated BSN may have been involved in its own insolubilization and tau accumulation. Furthermore, BSN mutations have also been related to various neurological diseases. In order to further investigate the pathophysiology of BSN mutation in detail, it is essential to study it in mouse models. We generated a mouse model with the mouse Bassoon p.P3882A mutation, which corresponds to the human BSN p.P3866A mutation, knock-in (KI) and we performed systematic behavioral and histological analyses. Behavioral analyses revealed impaired working memory in a Y-maze test at 3 months of age and decreased locomotor activity in the home cage at 3 and 12 months of age in KI mice compared to those in wild-type mice. Although no obvious structural abnormalities were observed at 3 months of age, immunohistochemical studies showed elevation of Bsn immunoreactivity in the hippocampus and neuronal loss without tau accumulation in the substantia nigra at 12 months of age in KI mice. Although our mice model did not show progressive cognitive dysfunction and locomotor disorder like PSP-like syndrome, dopaminergic neuronal loss was observed in the substantia nigra in 12-month-old KI mice. It is possible that BSN mutation may result in dopaminergic neuronal loss without locomotor symptoms due to the early disease stage. Thus, further clinical course can induce cognitive dysfunction and locomotor symptoms.

Steatocystoma multiplex suppurativa: a case report

Introduction: Steatocystoma multiplex (SM) suppurativa is an inflammatory variant of SM, a benign hamartomatous disorder of pilosebaceous unit that usually occurs in early adulthood. Treatment responses are often disappointing due to widespread lesions and late diagnosis. This case report aimed to describe a male diagnosed with SM suppurativa to increase the knowledge and management of SM suppurativa. Case: A 23-year-old male came with multiple lumps on his neck, chest, back, and extremities over the last four years. On dermatological examination, yellow to skin-colored papules, nodules, and cysts, 0.3 to 2 cm in diameter, were observed with erythematous-to-hyperpigmented macules and scars over the lesions. Histopathological examination of the lesion showed cysts with pilosebaceous-like lining and sebaceous glands adhered to the cyst’s wall. The patient diagnosed with steatocystoma multiplex SM suppurativa was treated only with a topical antibiotic and corticosteroid. Discussions: Although the histopathological findings showed pathognomonic findings for SM, SM suppurativa was established as the working diagnosis based on the clinical and dermoscopic findings of inflammatory lesions. The biopsy of noninflammatory lesions might cause no sign of inflammation in the histopathological findings. Conclusions: Dermoscopic findings showed a yellow structureless area with diffuse erythematous borders and histopathological findings of a pilosebaceous-like layer with sebaceous glands adhering to the cyst wall and chronic inflammation is the hallmark of SM suppurativa.

Misdiagnosis of Acute Pericarditis Presenting with Coronary Artery Disease: a Case Report

Pericarditis is a common disorder that might present in various settings, including primary-care and emergency department. However, the clinical features in some cases did not match with the written theory, which could lead to a misdiagnosis. We reported a 34-year-old female presented to the emergency room with progressive tightness chest pain in the past 3 days, that got worse with a change in position and penetrated to the back. Based on clinical chest pain with history of stable coronary artery disease, no changes electrocardiograph (ECG) and normal laboratory evaluation, the patient was diagnosed with NSTE-ACS, treated based on guideline therapy but did not showed clinical improvement. Clinical re-examination and echocardiography evaluation showed a pathognomonic finding of pericarditis feature. Combination therapy of colchicine was given for 3 months and aspirin for 2 weeks. Follow-up evaluation showed normal ECG and echocardiography result without any remainder symptoms. Acute pericarditis does not always show typical clinical findings. Therefore, clinician must always aware with other differential diagnosis of chest pain and ECG variation of acute pericarditis even though the patient has a history of coronary artery disease

Understanding Lipoid Proteinosis: A Brief Overview

Lipoid proteinosis is a rare autosomal recessive deposition disorder resulting from a loss-of-function mutation of ECM1 on chromosome 1q21. It is characterized by the deposition of hyaline-like material within multiple organs, including the skin, oral mucosa, larynx, and brain. Clinically, the first sign is often a weak cry or hoarseness of voice due to the infiltration of the laryngeal mucosa; hoarseness remains throughout life. Cutaneous lesions occur in two stages, which may be overlapping; the first stage consists of vesicles and hemorrhagic crust on the skin of the face and extremities, which resolves with pock-like scarring. In the second stage, the skin becomes diffusely thickened and waxy yellow. The classical clinical feature is beaded papules linearly arranged over the eyelid margin, known as Moniliform blepharosis. Involvement of the tongue, oropharynx, recurrent parotitis, dental anomalies, and neurological manifestations are other findings. A pathognomonic radiographic finding is bilateral intracranial sickle-shaped calcification in the amygdala. Pink hyaline deposits are found in the dermis in skin biopsy. Lipoid proteinosis is a chronic cutaneous disease with a benign course.