United States

Dermatofibromas are benign cutaneous soft-tissue tumors characterized by solitary or multiple, firm red-brown to black dermal nodules found on the trunk or extremities. Dermatofibromas most frequently affect middle-aged adults and have a slight preponderance in females. Variants of dermatofibroma include hemosiderotic, aneurysmal, epithelioid and deep fibrous histiocytomas, cellular, lipidized, lichenoid, keloidal, atrophic, and atypical. 

Diagnosis of the classical type of dermatofibroma is made clinically and based on dermoscopic patterns; however, the clinical and histologic heterogeneity observed in dermatofibroma variants can pose a diagnostic challenge and may be difficult to distinguish from potentially aggressive malignancies. Notably, hemosiderotic dermatofibroma has been reported to clinically simulate melanoma, while atypical dermatofibroma, is often mistaken histologically for sarcoma. 

Herein, we report a unique presentation of a patient with a recurrent atypical melanocytic nevus and multiple benign dermatofibromas masquerading as potentially malignant counterparts.

AMA Research Challenge 2023

Dermatological Deception: Massive Dermatofibroma and Atypical Melanocytic Nevus Mimicking Malignancy

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Join the AMA Research Challenge poster symposium and semifinals to explore top research posters, score posters in the semifinals (an AMA member exclusive opportunity) and attend education sessions with experienced physicians to learn tips to advance your research and career. 

Background 
Lactation support in transgender women is increasingly recognized as clinically important yet has limited clinical precedent. While previous case reports describe successful lactation induction their protocols involve domperidone, a galactagogue unavailable for this purpose in the US and recommended against by the US Food and Drug Administration (FDA). We present a case of successful lactation induction in a transgender woman using a protocol not involving galactagogues. 
Case Presentation 
Our patient was a 36-year-old transgender woman, a United States military veteran 
receiving care through the Veterans Health Administration (VHA), who was planning on having a child with her partner and wanted to breastfeed. Her partner, a transgender man, carried and delivered the child and wished to return to testosterone use shortly after delivery. Her primary goals included sufficient milk production to allow bonding, even if not the sole source of infant nutrition. Our multidisciplinary team included a clinical pharmacist with gender-affirming hormone therapy expertise and a lactation specialist with gender-affirming therapy expertise. Our patient was status post orchiectomy with an initial testosterone level of 27 ng/dL, and on a dose of 4mg PO 17-beta estradiol. We began the patient’s lactation induction 98 days prior to her partner’s pregnancy and 377 days prior to her 
partner’s eventual due date. Our protocol involved 1) increased estrogen and 
progesterone to mimic physiologic levels during pregnancy; 2) physical nipple stimulation using a breast pump; and 3) reduced estrogen and progesterone shortly before delivery to mimic physiologic levels after birth. We opted against a galactagogue due to FDA recommendations against domperidone as well as patient concerns of side effects with other galactagogues. Interestingly, our patient’s estradiol levels remained under 200 pg/mL throughout the lactation induction process, even at higher levels of 17-beta estradiol dosing. This is in consonance with other published case-reports on lactation-induction in transwomen. 
Discussion 
Working with a multidisciplinary team including pharmacy and lactation specialists and using a protocol involving (1) initial increase of estradiol and progesterone, (2) nipple stimulation, and (3) eventual reduction of estradiol and progesterone, our patient was able to lactate without the use of galactagogues, allowing her to meet her goal of bonding with her baby. This is the first reported case of successful lactation induction without galactagogues for a transgender woman to our knowledge, and provides an example protocol modeled on physiologic lactation stimuli that other clinicians may adapt with their own patients in similar circumstances.

Inducing lactation in a transgender woman without galactagogues: A case report

Acute osteomyelitis in the setting of chronic steroid therapy for the treatment of 17-alpha-hydroxylase deficient congenital adrenal hyperplasia

The association between viral illness, inflammation, and organ dysfunction and damage is well-established throughout the literature. The interaction between angiotensin-converting enzyme 2 (ACE2) receptors and SARS-CoV-2 has been associated with the pathogenesis of SARS-CoV-2-related illness. COVID-19 can result in gastrointestinal complications due to direct or indirect insult (cytokine storm). Diarrhea is a common gastrointestinal manifestation of pancreatic insufficiency, inflammatory bowel disease, and SARS-CoV-2 infection. In COVID-19 patients, it’s the most common GI manifestation. We describe a unique case of COVID-19-induced concurrent exocrine Pancreatic Insufficiency and Inflammatory Bowel Disease that presented as chronic diarrhea. Given that the long-term effects of COVID-19 remain unknown, this case underscores the importance of systematically documenting COVID-19 manifestations to establish a temporal pattern of post-infection pathology for future research.

Long COVID: A Case of Concomitant Pancreatic Insufficiency with Inflammatory Bowel Disease

Background
This case report describes a rare extragonadal germ cell tumor, primary yolk sac tumor (YST) of the liver, which should be included in the differential of a young adult presenting with painless jaundice. There have been approximately 20 reported cases, the first being in 1975, of which only 5 are adult males. The estimated mortality rate for patients diagnosed with YST of the liver is greater than 50%.
Case Presentation
A 32-year-old male was referred from an outside facility for evaluation of painless jaundice. He had multiple prior hospitalizations which revealed a recurring distal common bile duct (CBD) stricture despite multiple biliary stent placements. A computed tomography (CT) scan was obtained and redemonstrated the distal CBD stricture. An endoscopic ultrasound (EUS) was then performed, showing enlarged peri-portal and peri-ductal lymph nodes in addition to a dilated CBD secondary to a distal stricture. A fine need biopsy (FNB) was obtained from the largest peri-ductal lymph node. An endoscopic retrograde cholangiopancreatography (ERCP) was then performed with placement of a plastic biliary stent to decompress the biliary tree and relieve the CBD obstruction secondary to lymphadenopathy. His serum bilirubin levels normalized 1 week later. FNB staining was consistent with YST. Subsequently, a testicular ultrasound was performed, but showed no evidence of a primary testicular mass, which confirmed the diagnosis of a primary YST of the liver. The patient was referred to oncology where he started a curative-intent chemotherapy regimen of bleomycin, etoposide, and cisplatin.
Discussion
There are three existing hypotheses for YST of the liver pathogenesis: aberrant migration of primordial germ cells, reverse migration of the transformed germ cells from the testes, and abnormal differentiation of somatic cells. FNB stained positive for cytokeratin 7, alpha fetoprotein, and glypican-3, which suggested either adenocarcinoma or YST. A positive sal-like protein 4 stain confirmed the presence of YST. Given this similar staining pattern between adenocarcinoma and YST, it is important to consider YST in the differential diagnosis, especially in young patients presenting with jaundice. Primarily because its management is very different often needing only chemotherapy and not a Whipple procedure which is usually seen with adenocarcinoma.


Yolk Sac Tumor of the Liver: A Rare Cause of Bile Duct Obstruction

Eosinophilic gastroenteritis is an underdiagnosed condition that presents with long term complications in patients with vague gastrointestinal symptoms. The case of a 72-year-old man highlights the common symptoms of eosinophilic gastroenteritis (abdominal pain, dysphagia, diarrhea) and how severe complications can arise such as cholecystitis prompting surgery. We illustrate the importance of identifying features of eosinophilic gastroenteritis and limiting misdiagnosis, such as IBS. This allows access to appropriate treatment before severe complication arise. Family physicians play and key role in diagnosis and management of this condition. Our patient spent 3 weeks on the inpatient service, went through many imaging and laboratory tests, and eventually underwent a prompt cholecystectomy for a gallbladder perforation secondary to acute necrotizing cholecystitis. Likely, if diagnosed earlier, this patient may have been able to avoid this complication that led to surgery by receiving proper treatment. The case review highlights the clinical features, pathophysiology, diagnostic criteria, and current guidelines for treatment of eosinophilic gastroenteritis.

A Rare Case of Eosinophilic Gastroenteritis Complicated by Necrotizing Cholecystitis

Background
Small Intestinal Hemangiomas are a rare vascular finding which, left undiagnosed, may present as uncontrolled bleeding or perforation. Though the emergence of new gastrointestinal imaging technologies, including capsule endoscopy and balloon-assisted enteroscopy, has improved preoperative diagnosis significantly, the pre-treatment rate remains less than 30%. Given this low pre-treatment rate of small bowel hemangiomas, we must better prepare physicians to identify and manage patients with hemangiomas of the small intestine.

Case Presentation
A 25-year-old male presented with a six-year history of epigastric abdominal pain and microcytic anemia without overt gastrointestinal hemorrhage. CT Abdomen and Pelvis demonstrated several filling defects throughout the ileum. EGD demonstrated a friable vascular mass without bleeding in the duodenal bulb, with biopsy suggestive of hemangioma. Endoscopic ultrasound demonstrated a 15mm lesion in the deep mucosa. Upper GI series with small bowel follow-through showed multiple luminal filling defects in the distal jejunum and ileum. Further endoscopy and surgical resection were deferred due to high risk of bleeding. The patient was started on a bowel regimen and is undergoing expectant management.

Discussion
Though small bowel hemangiomas are currently estimated to comprise less than 0.05% of gastrointestinal neoplasms, the spread of capsule endoscopy and double balloon enteroscopy suggests an imminent rise in the diagnosis of asymptomatic hemangiomas. In patients presenting without overt gastrointestinal bleeding, abdominal pain, and microcytic anemia, small bowel imaging is an important adjunctive diagnostic technique to endoscopy. Given the low pretreatment rate of small bowel hemangiomas, we must better prepare physicians to identify and manage patients with hemangiomas of the small intestine.

Multiple Hemangiomas of the Small Intestine: A Rare, Underdiagnosed Cause of Chronic Gastrointestinal Bleeding

Background 
Gallstone-related disorders affect over 25 million Americans at an annual cost of over six billion dollars and their incidence is increasing amongst adolescents and young women. Gallstone formation is influenced by multiple factors such as obesity, pregnancy, and oral contraceptive use. Choledocholithiasis – the presence of gallstone(s) in the common bile duct (CBD) – can lead to inflammation, infection and life-threatening outcomes. Diagnosis is typically through clinical presentation, laboratory findings, and imaging while management involves endoscopic stone removal and subsequent cholecystectomy. A case of choledocholithiasis in a young woman is presented here.

Case Presentation 
A 19-year-old female presented to the emergency department (ED) with five hours of right upper quadrant pain and an episode of non-bilious vomiting. She reported intermittent colicky post-prandial abdominal pain for the past three weeks and had visited the ED six days earlier with right-sided chest discomfort and constipation. Electrocardiography, chest x-ray, and troponin tests done at that time, were normal but her liver enzymes were elevated. She also had a history oral contraceptive use.
The physical examination was notable for right abdominal tenderness and a high body mass index (46.27kg/m2). Computed Tomography Scan and ultrasonography of the abdomen revealed bile duct dilation and gall bladder stones, but no CBD stone or cholecystitis. Her pain and nausea were managed conservatively but when her liver function tests worsened, she was deemed a moderate risk of choledocholithiasis, as per the American Society for Gastrointestinal Endoscopy (ASGE) criteria. A Magnetic Resonance Cholangiopancreatography (MRCP) showed extrahepatic bile duct dilation with filling defect but no CBD stone. Due to the high index of suspicion, Endoscopic Retrograde Cholangiopancreatography (ERCP) was performed. During the procedure, a CBD stone was located and successfully extracted. This led to clinical improvement, and normalization of bilirubin and liver enzyme levels. Laparoscopic cholecystectomy was performed the following day, with an uneventful recovery and discharge.

Discussion
This case underscores the importance of critically evaluating the effectiveness of existing imaging protocols in accurately diagnosing choledocholithiasis. Despite higher sensitivity, ERCP is often deferred in favor of non-invasive imaging. However, in cases such as this, where classic clinical features and typical laboratory findings of obstructive biliary disease are present, early ERCP may avoid delays in definitive treatment. Further research is also warranted to identify preventative measures, including strategies to tackle childhood obesity, that will reduce the incidence of gallstone-related disorders in pediatric and adolescent populations.

A Complex Case of Choledocholithiasis in an Adolescent: Diagnostic and Management Challenges

Bilateral ureteroinguinal hernia is a rare presentation with only five cases previously presented in the literature. We describe a 60-year-old male who was diagnosed with large bilateral hernias extending into the scrotum containing redundant ureters. Both hernias were repaired in staged fashion with retrograde temporary ureteral stent placement and modified Lichtenstein technique. Follow-up computerized tomography imaging with >5 years follow-up revealed intact repairs with no evidence of urinary obstruction.

Case Report: Bilateral Ureteroinguinal hernia into the Scrotum Repaired in a Staged Fashion

Background
Fournier’s Gangrene is a type of necrotizing fasciitis that is rare and life-threatening if not treated promptly. It commonly affects the penis, scrotum, and perineal tissue in men between the ages 50-60. With fascial necrosis progressing as fast as 2-3 cm/hour, early and rapid diagnosis and treatment is critical in decreasing mortality and adverse outcomes. This case report presents a 22-year-old male patient with Fournier’s gangrene and describes the symptoms, physical examination, treatment plan and expected clinical course. 

Case Presentation
A 22-year-old male presented to the emergency room with nausea, vomiting and an evolving painful sore on the posterior medial thigh. He had a history of uncontrolled type 1 diabetes mellitus and was noncompliant with medicine. The patient’s vital signs at admission were as follows: BMI of 35.0, blood pressure of 141/84 mmHg, pulse rate of 126 bpm, respiratory rate of 18/min, temperature of 38.11C, and oxygen saturation of 97% on room air. His labs were significant for elevated glucose at 330 mg/dL with mild diabetic ketoacidosis and increase WBC count of 25.1 x 103/L with 81.4% neutrophil. In the ER the patient was started on empiric antibiotic therapy and initial differential diagnosis include medication intolerance, gastroenteritis and diabetic ketoacidosis. Two hours later, his temperature rose to 39.33C and blood pressure dropped to 107/58 mmHg. After another 5+ hours, general surgery was consulted for irrigation and debridement. Surgery was performed; skin and necrotic subcutaneous tissue was excision extending until healthy tissue was reached. This excision spread from the posterior medial thigh just below the buttock to the deep perineum and anterior medial thigh. Post-operation antibiotic regimen was altered to include clindamycin, vancomycin and piperacillin-tazobactam. After narrowing antibiotics and continuous clean wound dressing changes, a vacuum-assisted closure (VAC) was applied to the wound in the OR on post-operative day three. On post-operative day five, patient was discharged with 14 day course of oral Augmentin and home-health care for assisted dressing changes.

Discussion
This unusual age caused delayed treatment and missed diagnosis originally. This case presentation might change emergency and surgical physician’s differential diagnoses and plan of action for younger patients that present with worrying symptoms of Fournier’s Gangrene. By expanding the age range and keeping different diagnosis wide, this can keep younger populations from slipping through and being eliminated on initial presentation. When it comes to Fournier’s Gangrene, time is essential and earlier diagnosis can be the difference in limb loss or even mortality.


A Case Report of Fournier’s Gangrene in an Unusual Age Group

Morgagni hernias are a rare type of diaphragmatic hernias usually presenting as a congenital defect within the diaphragm at the foramen of Morgagni with a prevalence of 2-3% [1,6]. Although rare, these hernias are usually seen in infancy or early childhood but are uncommon within adulthood. Due to the location of the foramen of Morgagni, abdominal contents herniate anteriorly within the chest with the majority in the right chest (91%) and less commonly in the left (5%) or bilateral chests (4%) [5]. Patients often present with pulmonary symptoms including chest discomfort, shortness of breath, or pneumonia [6, 9]. Although most cases are found incidentally, due to the concern for incarceration these hernias are recommended for surgical repair [4]. Approaches for repair include laparotomy, thoracotomy, open thoracoabdominal approach, laparoscopy, video-assisted thoracoscopy (VATs) [2]. However, there seems to be very limited reports of a combined laparoscopic and VATs approach for the repair of a diaphragmatic hernia. Here we present a case of 76-year-old male who presented to our emergency department with shortness of breath, chest tightness and pain with oral intake found to have a Morgagni hernia with herniation of the omentum, small bowel, and colon into the left hemithorax. Using a combined laparoscopic and VATs approach, we were able to successfully repair his hernia with minimal complications demonstrating the combined approach as a safe and viable option.

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Dermatological Deception: Massive Dermatofibroma and Atypical Melanocytic Nevus Mimicking Malignancy

Next from AMA Research Challenge 2023

Inducing lactation in a transgender woman without galactagogues: A case report