United States

Introduction:
Stevens-Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rapidly developing mucocutaneous reactions, existing as a spectrum based on skin involvement, generally triggered by medications. SJS/TEN-like systemic lupus erythematosus (SLE) is described in
several case reports, although it remains uncommon. It presents as a diagnostic conundrum given that this bullous rash is not typically seen with lupus. Here, we describe a case of SLE masquerading as SJS.

Case Presentation:
A 25-year-old male with mixed connective tissue disease (MCTD) and
attention-deficit/hyperactivity disorder presented with a diffuse rash and oral mucosal involvement after a sore throat and fever. He had recently started Modafinil. Upon examination, he appeared ill, with a generalized maculopapular rash. Lab-work revealed thrombocytopenia, normocytic anemia, acute kidney injury (AKI), and transaminitis. Rheumatology was consulted, and initially recommended monitoring off Modafinil, with further
work-up, including a skin biopsy (as rash appeared atypical for that seen in MCTD or lupus). Other consultants were also involved, including Dermatology, Nephrology, and Hematology-Oncology. Patient underwent a kidney biopsy and was started on IV Methylprednisolone 150 mg for three days, followed by Prednisone.
Interestingly, skin biopsy findings indicated features of SJS (separation of the necrotic epidermis from the dermis, perivascular lymphocytic infiltrate); however, there were also atypical features (mixed-cell infiltrate with neutrophils). The sample was then sent out for a second opinion. The patient developed respiratory failure and pulmonary edema, necessitating intubation and transfer to the Intensive Care Unit for pressor support due to cardiogenic shock [echocardiogram showed an ejection fraction of less than 30%]. Given clinical deterioration with
worsening cytopenias, transaminitis, AKI, hypocomplementemia, positive antinuclear-antibody, and double-stranded DNA (dsDNA), he was switched to IV Methylprednisolone 1 gram for three days, followed by a steroid taper. Elevated triglycerides (765 mg/dl) and ferritin (15,084 ng/ml) raised concerns for HLH, leading to the initiation of Rituximab (literature has shown use off-label
for SLE, and benefit in certain viral-induced HLH). Kidney biopsy revealed acute tubular necrosis and Class 1 lupus nephritis. Ultimately, direct
immunofluorescence of skin biopsy showed granular deposition of immunoglobulins and complement consistent with SLE.

The patient was also started on continuous renal replacement therapy. After receiving intravenous immunoglobulin (IVIG) for four days and Cefepime for Escherichia coli and Klebsiella bacteremia, he was weaned off pressors. Improvements were seen in complements, dsDNA, C-reactive protein, ferritin, and cytopenias. By discharge, dialysis was no longer needed, and he was started on Hydroxychloroquine, Prednisone taper, Atovaquone, and Spironolactone.

Discussion:
This case highlights the diagnostic and therapeutic challenges of managing lupus-associated SJS/TEN. Initial biopsy findings were consistent with SJS, but atypical cells and subsequent immunofluorescence confirmed SLE. Key clinical indicators—hypocomplementemia, elevated dsDNA, and steroid-responsive cytopenias—pointed to an SJS/TEN-like lupus. Management was further complicated by conflicting reports on the use of steroids in SJS/TEN and the development of HLH, requiring an aggressive treatment approach. Differentiating SJS/TEN-like SLE from drug-induced SJS/TEN is crucial for appropriate management and
prognosis.

AMA Research Challenge 2024 

Unmasking the Rash: Unveiling the Mystery Behind a Curious Skin Reaction

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Background
Subclavian artery stenosis can lead to retrograde flow from an ipsilateral vertebral
artery which can result in significant cerebrovascular symptoms (i.e. Vertebral Basilar
Insufficiency syndrome, VBI). An Aberrant Right Subclavian Artery (ARSA) is an anatomical
variation resulting in the right subclavian artery arising from the aortic arch rather than the right
brachiocephalic artery. Our patient presented with both conditions, each exceedingly rare.
Case Presentation
We present the case of a 76-year-old female with a past medical history significant for bilateral rheumatoid arthritis of the hands, hypothyroidism, and osteoporosis who presented to the emergency department for intermittent dizziness, near syncope, and lightheadedness for 2 days. Notably, the patient reported 3 episodes of incomprehensible speech. Physical exam demonstrated absent radial and ulnar pulses on the right with a systolic blood pressure difference from left to right arm of >60 mmHg. Diagnostic imaging confirmed a completely occluded and calcified ARSA. After a careful multidisciplinary discussion, the diagnosis of an occluded ARSA causing VBI was made. A right subclavian-carotid transposition procedure was performed to restore adequate blood flow and alleviate her symptoms. Her postoperative course was complicated by Horner syndrome.

Discussion
While ARSA is often asymptomatic, this patient exhibited symptoms due to the occlusion. Those that are symptomatic most commonly present with dysphagia, dyspnea, and coughing; VBI being exceedingly rare. Since the patient’s right subclavian artery was completely occluded at its origin and proximal segments, the right upper extremity received its blood flow through retrograde flow from the ipsilateral vertebral artery, which resulted in decreased cerebral perfusion without ischemic changes. While endovascular treatment can be considered first line in treating subclavian artery stenosis, the option of a carotid-subclavian bypass or carotid-subclavian transposition are available. Considering the anatomic variation present on this patient, the completion of a subclavian-to-carotid transposition was performed with immediate correction of blood flow. This case highlights the importance of recognizing rare vascular anomalies and unique pathophysiological presentations and the need for tailored surgical approaches in complex presentations.

A Case of Vertebral Basilar Insufficiency in the Setting of a Completely Occluded Aberrant Right Subclavian Artery.

Introduction/Objective
The sinus of Valsalva is the most proximal section of the ascending aorta near the aortic root. Sinus of Valsalva aneurysms (SOVA) is a rare congenital or acquired condition of the aortic root. Ruptured SOVA typically involves another chamber of the heart. Free wall rupture of the SOVA is normally associated with sudden death due to tamponade. We report a case of blunt trauma resulting in the rupture of the non-coronary sinuses of Valsalva, which was successfully repaired.

Case Presentation
The patient is a 47-year-old male with a past medical history of left thoracotomy and sternotomy for penetrating trauma who recently sustained blunt chest trauma at work. The patient was transferred from an outside hospital due to concern for thoracic aortic injury with active extravasation into the pericardium. Upon arrival, the patient complained of a brief loss of consciousness, chest pain, and shortness of breath. On the primary survey, the patient required BiPAP and esmolol drip. 
Transthoracic echocardiogram (figure 1A) and chest CTA (figure 1B) revealed a rupture of the sinus of Valsalva.
Figure 1A: The transthoracic echocardiograph reveals a rupture of the sinus of Valsalva. The rupture is near the aortic root's non-coronary cusp (NCC). Also visible are the right ventricle (RV), left ventricular outflow tract (LVOT), right coronary cusp (RCC), and ascending aorta.
Figure 1B: Axial view of chest CT showing disruption of the non-coronary cusp (NCC) with contained posterior hematoma within the mediastinum. The left coronary cusp (LCC) and right coronary cusp (RCC) are visualized.
The patient underwent a redo sternotomy, revealing a rupture of the left and non-coronary aortic root sinuses. He received a biological aortic root and valve replacement. After a prolonged hospital course, he was discharged home and resumed all normal activities upon outpatient follow-up.

Discussion
A literature search did not identify any reports of long-term survival following emergency surgical intervention for traumatic, free rupture of the Sinuses of Valsalva. We identified reports of non-traumatic ruptures of the SOVA into the pericardium causing tamponade. The unique feature of this case was the acute traumatic cause of the rupture, the distinct CT and TTE findings, and the successful aortic valve replacement. The history of sternotomy for penetrating trauma possibly contributed to the patient’s survival.

Conclusion
Traumatic free wall ruptured sinus of Valsalva into the mediastinum can show specific radiological findings; rapid surgical correction should ensue.

Successful Repair of a Ruptured Sinus of Valsalva Following Blunt Chest Traumatic Injury

Background
Primary male breast cancer with a synchronous second primary neoplasm is rare. Prostate-specific membrane antigen (PSMA) PET scan uses a tracer for detection of metastatic prostate cancer. Research has shown PSMA is highly expressed in triple negative breast cancer. Here, we report a case of a 75-year-old male with primary prostate cancer and synchronous primary breast cancer which was discovered on prostate-specific membrane antigen (PSMA) scan. To our knowledge, this is the first case showing primary prostate and primary breast cancer in a male with osseous metastasis identified on PSMA scan. 

Case Presentation
Patient is a 75-year-old male presenting with PSA of 180. Transrectal ultrasound guided prostate biopsy was positive for Gleason grade group 4 (4+4= 8) prostate cancer in 11 out of 12 cores with extra-prostatic extension. PSMA scan was obtained, showing increased PSMA expression consistent with widespread nodal and osseous metastatic prostate cancer. In addition, there was increased radiotracer uptake within the left breast soft tissue and enlarged left axillary lymph node, which may represent primary breast neoplasm versus metastatic prostate cancer. 

A palpable left breast mass in the breast underwent biopsy. Pathology was consistent with invasive ductal carcinoma, grade 1, measuring 11mm in the greater linear extent, ER positive, PR positive, HER2 negative. 

Prostate specific acid phosphate (PSAP) and NKX3.1 staining was negative, ruling out metastatic prostate cancer in the breast. 

The patient underwent left breast radical mastectomy with axillary contents. Pathology was consistent with invasive moderately differentiated ductal carcinoma 3.6cm (grade 2), adjacent to and arising from encapsulated papillary carcinoma. Margins negative for malignancy. One of fourteen axillary nodes positive for metastasis. Staged as pT2pN1a. Tamoxifen 20mg daily for 5 years and Lupron 45mg q6 months was initiated. PSA will be rechecked q6 months.


Discussion
This case is an example of a PSMA scan ordered for evaluation of prostate cancer metastasis incidentally found a primary breast cancer. It is an important case as providers should be aware that uptake in PSMA scans have the potential to be related to a second primary cancer.

Detection of primary male breast cancer with PSMA PET scan

A non-common cause of constipation in an 86-year-old female with abdominal pain.
EstrellaAcosta, Katty MD1, and RodriguezMichel, Francisco J.MD2 
1Rotatory Internship Program, 2,3 Internal Medicine Department. Hospital Buen Samaritano, Aguadilla, PR.

Introduction: A cholecystocolonic fistula is an abnormal connection between the gallbladder and the colon. This condition is rare but can lead to significant clinical issues in patients presenting with cholelithiasis.
Case Summary: We present an 86-year-old woman admitted to our institution with the diagnosis of intestinal obstruction. The computed-tomography examination of the abdomen was consistent with a gallstone at the sigmoid colon. Intraoperatively, the calculus necrotized the gallbladder wall and formed a cholecystocolonic fistula, presented with severe colonic inflammation requiring a segmental resection of the colon with end-to-end anastomosis and cholecystectomy with a traditional open approach. The abdomen was closed. Her post-operative course was complicated by anuria that did not respond to aggressive intravenous fluid, persistent respiratory failure and asystole that did not respond to ACLS protocol.
Discussion: Inflammatory process for a long period of time allows the entrance of gallstone into the bowel through a fistulous tract. This case illustrates that a high index of suspicious is necessary in patients with cholelithiasis history, constipation, and radiologic evidence of pneumobilia.
Conclusion: Timely diagnosis and appropriate surgical management are crucial for favorable outcomes.



A non-common cause of constipation in an 86-year-old woman with abdominal pain

Background: Necrotizing fasciitis is a rare life threatening infection characterized by progressive tissue destruction that may involve subcutaneous fat, fascia, and/or muscle. Gram-positive cocci, specifically strains of Staphylococcus aureus and Streptococci, are responsible for the majority of these single-site source infections. Polymicrobial infections occur as well because of a combination of gram-negative and anaerobic involvement. This case report presents a rare case of necrotizing fasciitis being caused by coagulase negative staphylococcus epidermidis and corynebacterium. 

Case Presentation: 
A 49-year-old male with past medical history of non-insulin dependent diabetes mellitus type 2 presented to the emergency department (ED) with a 2 day history of a progressively worsening right lower leg lesion. As per the patient, the lesion was initially erythematous and localized, but progressively expanded and began to develop bullae which prompted him to visit the ED. On arrival, the patient was tachycardic, febrile, and tachypneic. Labs were remarkable for leukocytosis with a neutrophilic predominance and an elevated blood glucose of 221. Blood cultures were collected and showed no growth in 5 days. However, wound cultures collected on the same day grew moderate corynebacterium and staph epidermidis within 24 hours. X-ray of tibia/fibula/ankle showed mild to moderate soft tissue edema about the medial malleolus and a small ankle joint effusion. Plastic surgery was consulted for bullae drainage and noted a large bullae on the medial aspect of the right tibia and erythema of the surrounding area. Wound debridement was recommended and performed on hospital day 4, 6, and 10. Intraoperative findings were consistent with necrotizing fasciitis, therefore muscular fascia was removed and split thickness autograft to the right leg was applied on hospital day 10, when intraoperative findings supported that the infection had resolved. Patient was treated with IV meropenem and doxycycline for 6 weeks and responded well to the autograft. 

Discussion:
Necrotizing fasciitis (NF) is typically caused by either a polymicrobial infection or Group A Streptococcus bacteria. Although diabetic patients tend to be susceptible to polymicrobial infections, it is very uncommon for the pathogens involved to only be those found on normal skin flora. Our case report shows that if there is a high index of suspicion, NF should still be considered even if wound cultures only grow bacteria typically present on normal skin flora. The aggressive progression of the infection despite the less common causative agents highlights the need for prompt recognition and intervention.


Aggressive Staphylococcus Epidermidis Infection Leading to Necrotizing Fasciitis: A Case Report 

Central nervous system lymphoma (CNSL) is a rare but aggressive subset of non-Hodgkin lymphoma (NHL). We present a case of a 48-year-old woman who presented with left-sided hemiparesis and facial droop. Patient has a past medical history of idiopathic thrombocytopenic purpura (ITP), retinal detachment, and subsequently tested positive for QuantiFERON-TB and IgG Toxocariasis. Initial imaging revealed multiple enhancing lesions, prompting concern for metastatic lesions or stroke. Extensive diagnostic workup including cerebrospinal fluid (CSF) analysis and biopsies led to the diagnosis of diffuse large B-cell lymphoma (DLBCL), the most common subtype. This case highlights the challenges in diagnosing CNSL, particularly in patients with concurrent medical conditions.

Approach to an Unclear Cause of Acute Weakness: A CNS Lymphoma Case Report 

Background
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome, is a rare, X-linked recessive, genetic immune dysregulatory disorder affecting approximately 1 in 1-1.6 million individuals. The syndrome is classically characterized by the triad of severe enteritis and food allergy, infantile endocrinopathy (infantile diabetes or thyroiditis) and eczema. Symptoms
usually start in the first month of life. The prognosis is poor, with most children dying
in early childhood. In most cases, IPEX syndrome is caused by mutations in the FOXP3 gene, which leads to impairment of regulatory T cells. As a result, this immune dysregulation manifests as severe multi-organ autoimmunities.

Case Presentation
A 12-month-old male with eczema presented with a one-month history of non-bloody diarrhea. Parents reported 7-8 episodes of diarrhea per day without fevers or emesis. The patient was admitted for severe dehydration and malnutrition. His albumin and potassium levels were low (1.7g/dL and 2.8mmol/L respectively). Fecal occult blood test was positive. Additional workup guided by the gastroenterology service revealed multiple allergies on food allergy panel. IgA, tissue transglutaminase, fecal calprotectin and GI pathogen panel were negative. The
differential diagnosis included food allergy, malabsorption, and autoimmune enteritis including IPEX. Our patient was started on an amino acid formula, but no improvement in symptoms occurred. Biopsy results from an esophagogastroduodenoscopy and colonoscopy showed complete villous atrophy in the duodenum and chronic lymphocytic inflammation and apoptosis in the colon. Autoimmune screening labs including celiac disease panel, thyroid panel, anti-islet,
anti-thyroglobulin, insulin antibodies, anti-TPO were all negative. Considering persistent symptoms, steroid therapy was initiated while awaiting genetic testing. A likely pathogenic variant FOXP3 mutation (chrX, 767t>C hemizygous mutation) was identified. Steroid therapy yielded limited improvement, and our patient was transferred to a specialized facility for further management and potential hematopoietic stem cell transplant.

Discussion
The case highlights diagnostic challenges in recognizing atypical IPEX syndrome
presentations. Our patient had a delayed onset and had 2 out of the 3 classic systems [enteropathy, dermatitis, endocrinopathy] involved with IPEX syndrome. The severity and persistence of symptoms led us to pursue genetic testing, which revealed a FOXP3 mutation. IPEX can manifest later in life; the eldest known onset was at 12 years old. Enteropathy typically precedes endocrinopathies in late-onset cases. Effective management of IPEX involves a combination of immune suppression and dietary adjustments, with Hematopoietic Cell Transplantation (HCT) offering the sole curative option. This case suggests that IPEX should always be considered in the differential diagnosis of intractable diarrhea, especially in a child with eczema and/or endocrinopathies.

Beyond the Norm: Unraveling the Complexity of an Atypical Presentation in Immune,
Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Introduction: A Roux-en-Y gastric bypass (RYGB) is a common bariatric surgery for weight loss, reducing the stomach size by creating a small pouch and bypassing a portion of the small intestine. While effective, RYGB can lead to complications, including nutritional deficiencies, anastomotic strictures, and, rarely, gastric remnant issues1. This case details a patient with persistent abdominal distension and pain who was found to have a gastric outlet obstruction (GOO) related to her RYGB performed over 20 years ago. 

Case: A 48-year-old female with sarcoidosis, rheumatoid arthritis, and a remote RYGB was admitted with septic shock secondary to MSSA bacteremia, complicated by mitral valve endocarditis and epidural abscess. Following abscess washout, the source of the bacteremia was determined to be cat scratches, and she recovered uneventfully. She also reported weeks of progressive bloating, abdominal pain, and poor appetite. CT imaging showed a fluid-filled and distended stomach. An upper GI study showed no evidence of obstruction of the efferent limb, suggesting an issue with the remnant stomach. A percutaneous gastrostomy (G)-tube was placed in the remnant stomach for decompression. Gastrograffin injected into the G-tube showed delayed gastric emptying with no contrast passage into the small bowel after 20 minutes, suggesting gastroparesis/gastric atony. A subsequent gastrograffin challenge showed contrast confined to the remnant, suspicious for GOO. The case was discussed amongst bariatrics and advanced gastroenterology teams, and the patient underwent an endoscopy through the G-tube, revealing a cratered ulcer at the pylorus of the excluded stomach and severe intrinsic stenosis which could not be traversed. She started on a proton pump inhibitor with plans for stricture balloon dilation. The patient was lost to follow-up and did not undergo the procedure. 

Discussion: Acute gastric remnant dilation is a rare postoperative complication of Roux-en-Y gastric bypass (LRYGB) occurring in 0 – 0.8% of cases2. This finding is unusual because the remnant pouch, being bypassed, is generally not expected to be actively involved in the digestive process. Dilation can be due to ulcer formation in the remnant stomach, as in this case, and has also been associated with diabetes and gastroparesis. Delayed diagnosis may lead to gastric remnant perforation, organ failure, sepsis, and death. This case underscores the role of internal medicine in managing complex inpatient presentations, especially those with incidental findings. The use of diverse imaging and procedural modalities like CT, upper GI studies, endoscopy was essential in diagnosing this atypical complication following RYGB.

Gastric Outlet Obstruction from Remnant Ulceration and Stricture: A Rare Complication Post RYGB

Background: The pectoralis major (PM) and pectoralis minor (PMi) are muscles located in the anterior chest wall. The pectoralis major is a fan-shaped muscle composed of the clavicular and sternocostal heads. Typically, the clavicular head originates from the anterior surface of the medial half of the clavicle. The sternocostal head, located just inferior to the clavicular head, originates from the anterior surface of the sternum, superior six costal cartilages, and aponeurosis of the external oblique muscle. The pectoralis minor lies deep to the pectoralis major, positioned on top of the rib cage. Innervation of these muscles is provided by the medial and lateral pectoral nerves.
Case Presentation: During a routine educational cadaveric dissection at the University of Toledo College of Medicine, asymmetrical pectoralis major muscles were identified in an 83-year-old male. Further examination revealed that the sternocostal head of the left pectoralis major was not fully developed. Additionally, the left pectoralis minor muscle was missing, and the left medial pectoral nerve was absent.
Discussion: Anomalous development of the pectoralis major is often associated with other musculoskeletal developmental defects, and the clinical presentation can vary depending on the involvement of structures. The PMi acts as a surgical landmark and can also be used as a myo-cutaneous flap in reconstructive surgeries. Understanding this anomaly can provide insights for managing cases of anomalous PM and PMi and have effects for future patients with pectoralis variations.


Hypogenic Pectoralis Major Muscle Associated with Complete Agenesis of Pectoralis Minor Muscle: Cadaveric Case Report

Background
Treprostinil is a synthetic prostacyclin analog, commonly used in the treatment of pulmonary hypertension. It can be given intravenously, subcutaneously via continuous pump, orally, or by inhalation. Typical adverse effects of the oral version include headache, nausea, vomiting, diarrhea, flushing, and dizziness. Here, we present a case report of an 80-year-old male with pulmonary hypertension (PH) who developed diffuse erythematous maculopapular rash while transitioning from intravenous treprostinil via subcutaneous pump to oral treprostinil.

Case Presentation
Patient is an 80-year-old male with severe pulmonary hypertension WHO group 1 and 3 who presented in clinic for evaluation of rash. He had previously been taking IV treprostinil 3.1 ng/kg/min via continuous subcutaneous pump for about eight months. He desired transition to oral treprostinil and began taking oral treprostinil 0.125 mg TID with plans to titrate up to 1 mg TID. On week two of the titration, while on 0.25 mg TID, the patient developed diffuse maculopapular erythematous rash, which was non-pruritic. He had no fever, mucosal involvement, or respiratory complications. Laboratory investigations revealed peripheral eosinophilia (0.84 K/uL, normal range <0.70 K/uL) but were otherwise normal. Serum IgE levels were within normal limits. Punch biopsy revealed orthokeratosis, mild spongiosis, and mild superficial perivascular and interstitial inflammatory infiltrate. These results indicated a dermal hypersensitivity reaction. Based on clinical picture, laboratory results, and histopathological findings, it was suspected that the patient’s rash was an idiosyncratic drug reaction associated with his upward titration of oral treprostinil. Patient was started on oral diphenhydramine 25 mg BID x10 days and oral prednisone 20 mg BID x7 days. The rash resolved within two weeks, therefore treprostinil titration was continued. The patient is now stable on oral treprostinil 1 mg TID without recurrence of rash. 

Discussion
Cutaneous adverse drug reactions (cADRs) pose a significant issue in the world of modern medicine, especially as medication regimens become more complex. Despite their frequency, information on incidence, symptomology, and long-term sequelae of cADRs is often underreported. Clinical trials of oral treprostinil have reported skin rash with little frequency. Furthermore, there do not appear to be any other case reports involving a maculopapular rash in response to oral treprostinil. Providers should be made aware of this rare reaction, espeically given the random, unpredictable nature of idiosyncratic drug reactions. Proper documentation of these cases is also crucial, as pharmacovigilance serves to advance scientific knowledge and improve patient care as a whole.

Next from AMA Research Challenge 2024

A Case of Vertebral Basilar Insufficiency in the Setting of a Completely Occluded Aberrant Right Subclavian Artery.

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