Young-Onset Ischemic Colitis: A Condition of Elusive Etiology Frequently Associated With Immune Dysregulation.

Ischemic colitis (IC) associates with older age, hypertension, and heart disease, among others. Young-onset IC is rare. We aimed to delineate clinical characteristics of young patients (<40 years) with IC. Cases from 1984 to 2017 were re-reviewed. Of the 60 cases available, 52% (n = 31) had histologic features of IC. Fifty-five percent were female with a mean age of 32 (range = 14-40) years. Fifty-eight percent (n = 18) were resections. The most common presentations were diarrhea and abdominal pain. Three teenagers had IC associated with prior surgery, volvulus, and constipation. In the 21- to 40-year group, 43% (n = 12) lacked clinical associations. A second subset (n = 6, 21%) had histories of immune dysregulation (lupus, dermatomyositis, vasculitis) and poorly controlled HIV/AIDS (n = 5, 18%). Smoking and cocaine were endorsed by 1 and 2 patients, respectively. One patient had premature atherosclerosis while another had HMG Co-A lyase deficiency. Vasculitis was identified in 22% of the resections and in none of the biopsies. Nineteen percent of patients died (n = 6) from complications of IC, all treated surgically, including 1 patient previously misdiagnosed as ulcerative colitis; 2 patients died of unrelated causes. While rare before 20 years of age, IC in teenagers relates to mechanical issues and is rare in children. Associations in young adults include immune dysregulation, cocaine and cigarette use, and premature atherosclerosis. Our retrospective cohort had a surgical mortality rate within the range reported by others, highlighting the importance of accurate diagnosis in young individuals.

Cutaneous Angiomyolipoma of the Ear: A Case Report and Literature Review.

Cutaneous angiomyolipoma is a rare mesenchymal tumor, distinct from its renal counterpart. Only few cases have been reported in English language literature to date. Here, we report a case in a 36-year-old man who presented with a painless swelling on his right ear. Microscopy revealed a well-circumscribed tumor, composed of an admixture of mature adipocytes, blood vessels, and bundles of smooth muscles. The tumor cells were positive for desmin and calponin but negative for HMB45, melan-A, SOX10, tyrosinase, and CD10. We present the case to emphasize the uniqueness of cutaneous angiomyolipoma from its renal counterpart. We also review the relevant literature on this topic.

Lactosylceramide synthase ß-1,4-GalT-V: A novel target for the diagnosis and therapy of human colorectal cancer.

Little is known about an oncogenic signal transducer ß-1,4-galactosyltransferase-V (ß-1,4-GalT-V), in human colorectal cancer. Using quantitative RT-PCR, immunohistochemical staining and ELISA assays, we determined that ß-1,4-GalT-V gene/protein expression is specifically increased in human colorectal cancer (CRC) tumors, compared to visibly normal tissue. Furthermore, we observed a marked increase in its enzymatic activity, and its product lactosylceramide. Moreover, we found increased dihydrosphingolipid metabolites, in particular dihydrosphingomyelin in cancer tissue compared to normal. Further, inhibition of glycosphingolipid synthesis by the synthetic ceramide analog, D-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (D-PDMP), concurrently inhibited colorectal cancer cell (HCT-116) proliferation, as well as ß-1,4-GalT-V mass and several glycosphingolipid levels. We conclude that ß-1,4-GalT-V may serve as a diagnostic and therapeutic biomarker for the progression of human colorectal cancer, and consequently, inhibition of GSL synthesis may be a novel approach for the treatment of this life-threatening disease.

The outlet patch: gastric heterotopia of the colorectum and anus.

AIMS: Gastric heterotopia (GH) has been described throughout the gastrointestinal tract. However, the colorectal region is an extremely rare location for it. We describe the clinicopathological features of GH of the colon, rectum and anus. METHODS AND RESULTS: We identified 33 cases in 20 males and 13 females (median age = 54 years; range = 4 months-73 years). Sites included the rectum (n = 26), anus (n = 4), ileocaecal junction (n = 1), ascending colon (n = 1) and descending colon (n = 1). Presenting symptoms (n = 27) included haematochezia (41%) and altered bowel habits (4%); 15 patients (55%) were asymptomatic. On colonoscopy (n = 31), all appeared as solitary lesions (median size = 6.5 mm, range = 2-55 mm), either as polyps (61%), raised erythematous patches (23%), an ulcer (10%), within a rectal diverticulum (3%) or a haemorrhoid (3%). Patients were managed by polypectomy. One with an associated carcinoma in the area of GH underwent resection. No morbidity related to GH itself was reported following excision. Histologically, heterotopic gastric mucosa was oxyntic (85%), mixed oxyntic and non-oxyntic (12%) and not specified (3%) types. In five patients a pyloric gland adenoma (PGA) arose from heterotopic gastric mucosa, two of which contained a focus of invasive adenocarcinoma. One case had associated surface foveolar-type low-grade dysplasia. Another had associated adenocarcinoma arising from the heterotopic mucosa. One example harboured Helicobacter pylori organisms. CONCLUSIONS: We highlight the features of GH in the distal GIT - the 'outlet patch'. Association with PGA, surface dysplasia and adenocarcinoma suggests that lower tract GH can undergo neoplastic transformation.

Spectrum of findings in orchiectomy specimens of persons undergoing gender confirmation surgery.

Gender confirmation surgery is increasingly common in persons with gender dysphoria. We describe changes seen in gonads from individuals seeking male-to-female physical adaptation. We studied 99 orchiectomies from 50 persons. The average age was 33 years (range, 21-63 years). Eighty-six (86.8%) of 99 testes were normal in size with an average size of 3.87 cm (range, 3.0-5.5 cm). Thirteen (13.1%) of 99 testes were hypotrophic and measured up to 2.5 cm. Seminiferous tubules were reduced in diameter compared with controls (0.137 mm versus 0.237 mm; P < .001) and showed peritubular fibrosis in 41 (82%) of 50 persons. In 40 (80%) of 50 persons, there was maturation arrest at the spermatogonia level. In 10 (20%) of 50 persons, the seminiferous tubules showed focal spermatids/spermatozoa up to 7 per 10 tubules mixed with partial maturation arrest at primary spermatocytes. Twenty-six (26%) of 99 testes showed seminiferous tubules with rare cells with large nuclei (3× size of Sertoli cells nuclei) and degenerative chromatin (cytomegaly). Leydig cells were absent in 50 (50%), markedly reduced in 30 (30%), and similar to controls (mean, 33/high-power field) in 20 (20%). A subset (20/99; 20%) of testes had epithelial hyperplasia of the proximal epididymis with stratification and micropapillae. There was no germ cell tumor, sex cord stromal tumors, or germ cell neoplasia in situ. In summary, the histologic changes include (1) decreased diameter of seminiferous tubules and expansion of the interstitium, (2) marked hypoplasia of germ cells, (3) rare cytomegaly, (4) hypoplasia or absence of Leydig cells, and (5) epididymal hyperplasia.

Effective use of Twitter and Facebook in pathology practice.

Social networking has become a part of daily life for most people. In the era of globalization, it has become indispensable for effective communication between friends and peers across the world. Today, social media use is not restricted only to our personal lives; it is becoming increasingly incorporated into our professional lives, as well. Social media platforms are rapidly becoming a necessary tool for medical professionals. Apt use of social media platforms can revolutionize scientific communication and collaboration. Pathologists are increasingly counted among Facebook's 2 billion users and Twitter's 328 million members. Social media can be a powerful tool not only for individual career progression but also for raising the public profile of the specialty of pathology. It is now possible for us to reach out to millions of people, simultaneously and instantaneously, just by touching a screen. Real-time interactions between physicians, across geographic borders and subspecialty borders, will undeniably open unexplored avenues for effective communication, consultation, research collaboration, and education. Knowledge sharing through social media will immensely enrich and grow our careers as pathologists; it will also enlighten the public and physicians of other specialties as to the crucial role of pathologists in patient care. We discuss the uses of Facebook and Twitter in modern day pathology, its implication in routine daily practice, pros and cons, and tips for effective social media use by pathologists.

Case Study: Rare Case of Mantle Cell Lymphoma With Extranodal Involvement in the Foot.

Mantle cell lymphoma (MCL) is a rare type of non-Hodgkin lymphoma that commonly affects extranodal sites. The most commonly affected sites are the bone marrow, gastrointestinal tract, Waldeyer's ring, lung, and pleura. We report the case of an 80-year-old diabetic male, in MCL remission, who presented with a small dome-shaped nodule on his calf and an ipsilateral second digit non-healing ulceration after a traumatic fall. Despite surgical and conservative treatment, the wound worsened, resulting in histopathologic examination, which confirmed the presence of lymphocytes, indicating MCL relapse. This case was followed up for approximately 3 months until the patient died. Our case is an example of pedal manifestations of skin involvement of MCL, which, on consideration of the clinical manifestations also, can be confused with a nonhealing diabetic wound. The clinical significance of our case study is to assist in the diagnosis, management, and prognosis of a patient with MCL.

Ileal Pouch Biopsy Triggers Investigation and Diagnosis of Systemic Mastocytosis.

We report a unique case of systemic mastocytosis (SM) diagnosed in an ileal pouch biopsy obtained from a 44-year-old woman with ulcerative colitis. She presented with intermittent abdominal pain and watery diarrhea that did not respond to antibiotic therapy. The pouch biopsy showed expansion of the lamina propria by aggregates of CD117 and CD25-positive abnormal mast cells. A subsequent bone marrow analysis showed an increase in abnormal mast cells. Based on World Health Organization criteria, she was diagnosed with SM and responded to cromolyn sodium therapy. Systemic mastocytosis can mimic pouchitis, and thus recognition of this condition is important for appropriate clinical management.

Rare Presentation of Giant Cell Tumor in the Internal Auditory Canal: Case Report and Review of the Literature.

Giant cell tumor (GCT) is a benign but locally aggressive bone tumor that usually involves the end of long bones. It is a relatively common neoplasm in patients, constituting 5 to 10% of all benign bone tumors. Approximately 2% of GCTs occur in the craniofacial skeleton with a predilection for the ethmoid, sphenoid, and temporal bones. The skull base location is unique and not commonly described. Hearing loss, headache, tinnitus, and subcutaneous masses are the most commonly reported symptoms in GCTs of the skull base. In this case report we present the first description of a GCT within the internal auditory canal causing cranial neuropathy and review the recent pertinent literature.

Nonossifying fibroma (metaphyseal fibrous defect) of the mandible in a 15-year-old boy.

We describe a rare case of nonossifying fibroma of the mandible in a 15-year-old boy who presented with a left mandibular swelling. Conventional imaging showed an expansile radiolucent lesion involving the angle and the body of the left mandible. The lesion was curetted, and a miniplate was implanted at the excision site. Microscopic examination of the removed specimen revealed a cellular lesion characterized by a proliferation of uniform spindle-shaped cells in a vague but prominent storiform pattern, which represented the classic appearance of nonossifying fibroma. Three months later, radiography detected a fracture of the implantation plate. The area was re-explored with curettage of the soft tissue, which on microscopy demonstrated findings similar to the initial curettage findings. Follow-up radiology revealed satisfactory healing of the jaw, and no further recurrence was seen 2 years after the initial surgery. We present this case to highlight the importance of recognizing nonossifying fibroma in the mandible, which can be easily confused with more common mandibular lesions.

Very delayed cervical lymph node metastases from hyalinizing clear cell carcinoma: report of 2 cases.

BACKGROUND: Hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland neoplasm most often found in the oral cavity. Although it is generally a low-grade malignancy that is treated with wide local excision, there is a growing body of evidence pointing toward the potential for more aggressive behavior. METHODS: We reviewed available records of patients with delayed cervical lymph node metastases from HCCC. RESULTS: Two patients who were treated with wide local resection for HCCC and remained disease-free at the primary site were diagnosed with cervical lymph node metastases 10 and 14 years later. We treated both with neck dissection, and 1 patient received adjuvant radiation therapy. CONCLUSION: These cases illustrate the risk for occult nodal metastases from HCCC with delayed presentation. Clinician awareness of the presence of subclinical metastases in the neck requires thorough long-term surveillance and potential intervention should nodal disease become manifest.

Kikuchi-Fujimoto disease in fine needle aspiration smears: a clinico-cytologic study of 18 pediatric cases and correlation with 68 adult patients.

OBJECTIVE: Kikuchi-Fujimoto disease (KFD) is a self-limiting disorder which usually affects young women. There are only a few studies on pediatric KFD patients and their fine-needle aspiration (FNA) cytodiagnosis. We report a series of pediatric KFD patients diagnosed by FNA cytology and compare them with adults. MATERIALS AND METHODS: By routine FNA cytology and through retrospective review smears initially diagnosed as reactive hyperplasia of lymph node during the years 2004-2009, 18 pediatric and 68 adult KFD cases were detected. The clinico-cytologic features of these two groups were compared. RESULTS: The age of the pediatric patients ranged from 6 to 18 years with a median of 13.5 years and adult cases were aged 19 to 54 years with a median of 30 years. Only 1 pediatric case (5.6%) and 20 (29.4%) adult cases were initially diagnosed as KFD (P = 0.0604). Arab:non-Arab ratios were 4.3:1 among the pediatric patients and 1:1.5 for the adults (P = 0.0043). FNA smears were highly cellular in 4 (22.2%) pediatric cases and 37 (54.4%) adult cases (P = 0.0180). More than 5% Kikuchi histiocytes was present in 8 (44.4%) pediatric and 49 (72.1%) adult cases (P = 0.0474). No significant difference was observed in male: female ratio, frequency of head & neck lymphadenopathy, time (season) of presentation, and presence of neutrophils and capillary networks, etc. CONCLUSIONS: Besides observation and interpretation errors, a significant difference between the two groups in respect of some clinico-cytomorphological features could have influenced the routine cytodiagnosis leading to lower pickup rate of pediatric KFD cases as compared to adults.

Mixed adenocarcinoma-carcinoid (collision tumor) of the appendix.

OBJECTIVE: To report a case of mixed adenocarcinoma and carcinoid in the gastrointestinal tract. CLINICAL PRESENTATION AND INTERVENTION: A 52-year-old man presented with a mass at the base of the appendix. On microscopic examination of the tumor, mixed adenocarcinoma and carcinoid was identified. The carcinoid component was insular/trabecular in morphology, and the epithelial component revealed mucinous adenocarcinoma. Morphologically and immunohistochemically the 2 components showed a clear-cut distinction, without any intervening intermediate cell population. The adenocarcinomatous component displayed omental deposit and metastasis to the regional lymph nodes. One year later, the patient developed multiple metastatic deposits of adenocarcinoma in the liver, rectus muscle, ileum and sigmoid colon. CONCLUSION: This tumor had an aggressive clinical course and behaved more like adenocarcinoma than carcinoid.

Papillary thyroid carcinoma: how much should the surgeon read from fine needle aspiration cytology reports?

OBJECTIVE: During routine fine needle aspiration cytodiagnosis of papillary thyroid carcinoma (PTC), a number of cases are diagnosed as suspicious; or it is suggested that PTC or a neoplasm be ruled out by histopathology. Since these diagnostic labels are likely to put the clinicians in a difficult situation while planning the management, this study aims to find out how much the surgeon should read from these reports. MATERIALS AND METHODS: The patients were divided into two groups. Group A included 38 cases diagnosed as PTC or suspicious of PTC. Group B included 40 cases in which it was suggested that PTC/a neoplasm to be ruled out and non-neoplastic lesions with one or more cytologic features of PTC. The two groups were compared with clinical, imaging and cytomorphologic features. RESULTS: A significant difference was observed with respect to age between Group A and Group B (P<0.001). The frequency of the following five cytologic features was significantly higher in Group A: papillary formation (P<0.001), psammoma bodies (P=0.054), fine nuclear chromatin (P=0.010), frequent nuclear grooves (P<0.001) and intra-nuclear cytoplasmic inclusion (P<0.001). Three or more of the five cytologic features were also reported in significantly higher number of Group A cases (P<0.001). Majority (81.8%) of the cases with subsequent histology in Group A were confirmed as PTC as opposed to 7.7% in Group B (P<0.001). CONCLUSIONS: Thus, cases with definitive cytodiagnosis of PTC and suggestive of PTC (Group A) should be taken much more seriously by the surgeons as compared to Group B cases.

Jejunal perforation caused by schistosomiasis.

We report an extremely unusual case of jejunal perforation caused by adult schistosoma worm in a 49-year-old South Korean man who presented with acute abdomen. To our knowledge, this is the first case of jejunal perforation associated with adult worm of schistosoma.

Phyllodes tumor of the vulva: Report of a rare case and review of the literature.

Phyllodes tumor occurring in the vulva is extremely rare; only 6 cases have been previously reported in the literature. The histogenetic origin of this tumor is controversial as it is being debated whether such lesions evolve from ectopic breast tissue, cutaneous apocrine glands, and most recently, anogenital mammary-like gland. We report an 18-year-old Kuwaiti girl who presented with a painless mass in the left labium majus, which was subsequently excised. Microscopic examination revealed morphologic pattern characteristic of benign phyllodes tumor. Immunostaining demonstrated the presence of estrogen receptors and progesterone receptors in the epithelial component. We present this case to emphasize the importance of recognizing this uncommon lesion occurring at an extremely unusual site. We also discuss the histogenesis of phyllodes tumor and related lesions occurring in the anogenital region in light of the current literature along with a brief review of the previously reported cases of vulvar phyllodes tumor.

An unusual case of extensive epididymotesticular malakoplakia in a diabetic patient.

A 67-year-old Saudi man with poorly controlled diabetes-mellitus underwent orchiectomy for a painful left testicular swelling that did not respond to antibiotics. Clinical diagnosis was testicular malignancy. Histologic workup demonstrated extensive involvement of the testis and epididymis by diffuse infiltrate of large histiocytes with eosinophilic granular cytoplasm and numerous Michaelis-Gutmann bodies, which were diagnostic of malakoplakia. Very rarely, malakoplakia has been described in association with diabetes mellitus. Such an extensive malakoplakia occurring at an unusual site in association with systemic illness lends support to the view that a compromised immune status could be etiologically important in malakoplakia. We present this case to highlight the importance of diagnosing malakoplakia when it occurs at unusual locations. We also explore the role of diabetes mellitus in the pathogenesis of malakoplakia and compare the relationship between malakoplakia and xanthogranulomatous inflammation, which are closely related to each-other on both clinical and morphologic grounds.