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**Abstract:**



AMA Research Challenge 2023

Aching Adipose: Shedding Light on Dercum’s Disease

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Lip and face lesions are recognized in dermatology as significantly distressing for patients. There are stereotypes associated with different lesions in this area that affect patients deeply, motivating them to seek care immediately. The average population or clinician is aware of common lip lesions, the most diagnosed of which is herpes simplex virus. Dermatologists must continue to be aware of unique lip and face lesions as they may grow rapidly, be worrisome, and affect the patient’s perception of themselves and psychological well-being. We present the case of neutrophilic sebaceous adenitis, which is an incredibly rare condition that has been reported minimally in the literature. Recognition of rapidly growing lesions, like our patients, is vital for proper diagnosis and treatment.
A 74-year-old female presented to the dermatology clinic with a 5-day history of a rapidly progressive lower lip lesion. Valacyclovir and Carmex only minimally improved her condition. Examination was significant for tenderness to palpation. The patient had no other lesions, no preceding trauma or bites, and no systemic symptoms. Histopathology showed a somewhat dense, superficial and deep, perivascular and periadnexal infiltrate composed predominantly of lymphocytes. The overlying epidermis showed some interface changes with a few necrotic keratinocytes as well as a focal but prominent neutrophilic infiltrate involving a sebaceous gland lobule. No increased dermal mucin was identified on Alcian blue stain. The patient discontinued valacyclovir and treated the lesion with triamcinolone 0.1% twice a day for a few weeks until it cleared. 
Neutrophilic sebaceous adenitis is a very rare condition. Pathogenesis is unknown but triggers such as sun exposure, antibiotics, and febrile illness have been reported. Lesions can progress over days to months and are typically asymptomatic. Recognition of this lesion around the lips and face is imperative as a differential diagnosis for providers to be aware of. Histopathology typically shows an inflammatory infiltrate, particularly of neutrophils and lymphocytes, around sebaceous glands. Sebocytes may be necrosed and further inflammatory infiltrates may be noted around the dermis. There are no current dermatologic guidelines on management although case reports have shown successful treatment with topical or oral steroids, metronidazole, or isotretinoin.

Looking Beyond the Ordinary Lip Lesion: A Rapidly Progressive Case of Neutrophilic Sebaceous Adenitis

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.

Dermatological Deception: Massive Dermatofibroma and Atypical Melanocytic Nevus Mimicking Malignancy

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.

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Aching Adipose: Shedding Light on Dercum’s Disease

Next from AMA Research Challenge 2023

Looking Beyond the Ordinary Lip Lesion: A Rapidly Progressive Case of Neutrophilic Sebaceous Adenitis