Primary neuroendocrine carcinoma (NEC) except for Merkel cell carcinoma has rarely been reported in the skin. Herein reported is a unique case of a primary cutaneous NEC with histological features of squamous cell carcinoma (SCC) with high cellular anaplasia; the tumor is called “squamous NEC” in this report. A 77-year-old man presented with a skin tumor measuring 0.7 cm × 0.8 cm × 0.7 cm of the right second finger. A biopsy showed invasive malignant epithelial cells with keratinization. The carcinoma cells were continuous with epidermis, and showed high cellular anaplasia. No apparent lympho-vascular permeations were seen. The pathological diagnosis was poorly differentiated SCC. Because the histological features were unusual, an immunohistochemical study was performed. The carcinoma cells were positive for cytokeratin (CK) AE1/AE3, CK34BE12, CK5/6, neuron-specific enolase (NSE) (positive percentage (PP) = 70%), chromogranin (PP = 95%), synaptophysin (PP = 95%), NCAM (PP = 20%), p63, p40, S100 protein (Langerhans cells), and Ki-67 (labeling index (LI) = 98%). The carcinoma cells were negative for CK7, CK8, CK9, CK14, CK18, CK19, CK20, CK CAM5.2, smooth muscle actin, vimentin, desmin, HMB45, p53, CD45, TTF-1, HCG, and surfactant apo-protein. Because the skin SCC showed neuroendocrine features and the neuroendocrine cells exceeded 50% of the total tumor cell population, a diagnosis of squamous NEC was made. The histological features, NEC features, high anaplasia, and high Ki-67 labeling index (LI = 98%) suggested poor prognosis. Systemic investigations using CT, MRI, PET, and upper and lower gastrointestinal endoscopy revealed no tumors except for the finger tumor. No lympho-adenopathy was seen. The outcome seemed not good. The tumor of the finger was difficult for operation. Wide excision or finger amputation is considered.

The author herein reports a hitherto undescribed entity of cutaneous primordial carcinoma with triple differentiation into basal cell carcinoma (BCC), squamous cell carcinoma (SCC) and porocarcinoma (PC) in a 66-year-old man. The patient was treated by tumor excision with wide margins. Pathologically, the margins were negative for tumor cells. The patient is now healthy 1 year after the excision. The tumor measured 3 cm × 2 cm × 2 cm and arose from the epidermis. The percentage of the occupying area was 60% in BCC, 20% in SCC, and 20% in PC. Histologically, BCC was characterized by basalioma cells, melanin pigmentation, peripheral palisading, and cleft formation, SCC by ample acidophilic cytoplasm, individual keratinization and cancer pearls, and PC by poroma cells and tubular structures containing cuticles. Cystic changes in BCC and SCC, keratotic nature of BCC, and acatholytic features of SCC were also seen in places. There were gradual merges among the three components. Immunohistochemically, BCC component was characterized by strong and diffuse expression of KIT, PDGFRA and p63, weak expressions of cytokeratin (CK) AE1/3, CK CAM5.2, CK34BE12, and negative expressions of CK18, CK19, CEA and CA19-9. SCC component was characterized by strongly positive expressions of p63, CEA, CK34BE12, CK7 and CK8, and negative expressions of CK18, CK19, and CA19-9. PC was characterized by strongly positive expressions of KIT, PDGFRA, CK34BE12, CK7, CK8, CK18, CK19, CEA, S100 protein, CA19-9, MUC1, and negative expression of p63. The present case revealed that there are primary cutaneous keratinocytic primordial carcinomas with triple differentiations into BCC, SCC, and PC. The present case is the first example of such tumors. It is thought that KIT and PDFRA-positive stem cells or cancer stem cells in the BCC component give rise to the SCC and PC components in the present case.

Perineuroma is a rare tumor originating from perineurium of the peripheral nerve. In contrast to neurofibroma and schwannoma, both of which arise from endoneurium and are immunohistochemically positive for S100 protein, perineuroma is negative for S100 protein; the fact makes the pathologic diagnosis difficult. As is well known, stem cells are highly associated with neuronal and organ developments in human embryos, and some neuronal cells are suspected to be derived from neuronal stem cells. Herein reported a very rare case of subcutaneous perineuroma negative for S100 protein but positive for a number of stem cell antigens; the case suggested that some perineuromas could arise from neuronal stem cells. A 68-year-old woman presented with a skin tumor of 10 mm in diameter in the foot. Physical examination revealed a small movable subcutaneous tumor, and resection was performed. Histologically, the tumor was a well-defined round tumor measuring 0.9 cm × 0.9 cm × 0.9 cm located in the subcutaneous tissue. No capsule was seen. The tumor was composed of hypocellular myxoid, neuroid tissues containing small areas of high cellularity where tumor cells resembled neuronal stem cells. Immunohistochemically, the tumor was negative for S100 protein, HMB-45, various cytokeratin (CK), EMA, α-SMA, desmin, p53, and many other antigens. The neuronal stem cell-like cells were positive for various stem cell antigens including NSE, KIT, bcl-2, chromogranin, synaptophysin, PDGFRA, MET, ErbB2, and CD34, as well as for vimentin and Ki-67 antigen (labeling index = 1.5%). Because the tumor was negative for S100 protein but positive for neuroendocrine molecules and neuronal stem cell antigens, the author diagnosed the tumor as perineuroma with stem cell features. Such a perineuroma has not been reported to date. The outcome of the patient was excellent.

Appendiceal diverticulosis (AD) is a rare condition. The author reviewed 675 archival pathologic consecutive appendectomies in his institution in the last 12 years. As the results, 6 cases of AD were found. Thus, the incidence of AD was 0.8% of all appendectomies. The AD was seen characteristically in middle aged parsons; in this series, 37-year-old (y) female (F), 42y male (M), 44y F, 56y M, 57y F, and 59y M, with the median of age of 50y, range of 37-59y, and M:F ratio of 3:3. The clinical presentation of the six cases are the same as other appendectomies. The histological features were described.

In 2002, Seibel et al. presented a case series of 18 patients with villous adenomas of the urethra. Since then, only a couple of reports regarding this rare entity have been published. Recently (2013), Kao and Epstein proposed a new entity of tubular adenoma (4 cases) in the urinary tract, being similar to tubular adenomas in gastrointestinal (GI) tract; no following cases have been reported. Herein presented a case of tubule-villous adenoma (TVA) in the prostatic urethra (PU) of a 77-year-old man male patient suffering from dysuria. Cystscopy showed a polypoid/villous tumor of the PU, and transurethral resection of this tumor was performed. Grossly, fragments of the tumor measured 12 mm in diameter and polypoid/villous. Microscopically, it was a TVA indistinguishable from GI adenomas. No urothelium was seen, but a few normal prostatic glands were noted. The tumor showed mild to severe dysplasia, but in situ malignant transformation and invasive malignancy were not seen. Histochemically, acidic mucins were present. Immunohistochemical staining results of the tumor cells were as follows: cytokeratin(CK) AE1/3+++, CKCAM5.2+++, CD34BE12+, CK5+, CK6+, CK7++, CK14-, CK20+, EMA+, CDX-2-, CEA++, CA19-9++, CA125-, vimentin-, NSE-, NCAM-, synaptophysin-, chromogranin-, E-cadherin+++, beta-catenin+++, MUC1++, MUC2-, MUC5AC++, MUC6+, PSA+++, AMACR+++, AFP-, HepPar1-, p53-, KIT-, PDGFRA+, MET+, HER2-, Ki67+ (labeling = 5%). Myoepithelial cells were present in some areas. These results suggest the development and presence of a TVA in the PU indistinguishable from those in the GI tract, and it can arise from prostatic epithelium.

Intradermal nevocelluar nevus is a very common hamartomatous neoplasm of the skin. The author herein reports two tumors of intradermal nevocelluar nevus in the neck occurring in a 55-year-old woman. The tumors were characterized histologically by typical intradermal nevocelluar nevus with significant areas of adenoid or glandular formations. In both tumors, hair follicles were seen in centers of the tumors. The cellular features of the adenoid areas were the same as those of solid areas. In solid areas, vague vacuolated and obvious vacuolated cells were recognized in some areas. In solid areas of the surface and lateral areas of the tumors also showed clear cut adenoid features without vacuolations. The adenoid features showed mild depositions of hemosiderins. There were gradual merges between solid areas and adenoid or glandular areas. Histochemically, the tumor cells including adenoid structures had glycogen, but had no mucins. Immunohistochemically, cells of both tumors were strongly positive for S100 protein, vimentin, NSE, NCAM, and bcl-2, and were weakly positive for synaptophysin and chromogranin. The tumor cells showed low cell proliferative potential; the Ki-67 labeling index was 2%. The tumor cells including adenoid structures were negative for CK AE1/3, CK CAM5.2, desmin, smooth muscle actin, HMB45, p53, p63, CD31, laminin, type 4 collagen, CEA. CD34, CA125, CA19-9, CD45, GFAP, KIT, PDGFRA, CD68, estrogen receptor, progesterone receptor, EMA, MUC1, MUC2, MUC5AC, and MUC6. These histological, histochemical, and immunohistocheimical findings strongly suggested that the present two tumors with adenoid structures belong to intradermal nevocelluar nevus. The formation of the adenoid architectures in the intradermal nevocelluar nevus was discussed. Possible mechanisms appear loss of cell adhesions molecules. The adenoid structures seem not to be degenerative ones. Pathologists should be aware that intradermal nevocelluar nevus may show adenoid structures to avoid diagnostic confusions, for example adenoma and adenocarcinoma of skin appendages. The occurrence of this hitherto undescribed condition in two intradermal nevocelluar nevus in a patient may imply genetic lineage. To elucidate the mechanisms of adenoid structures in intradermal nevocelluar nevus seems future work.

Undifferentiated high-grade pleomorphic sarcoma is a tumor of mesenchymal cells without clear cell differentiation and represents a diagnosis of exclusion. It is located mainly in extremities, so its location in the head and neck is extremely rare. We report the case of an undifferentiated high-grade pleomorphic sarcoma located on the hard palate.

Gastric bypass procedures for morbid obesity are increasingly common in the United States. Neuropathy following gastric bypass surgeries is estimated at 6%. Most practitioners recognize this as a chronic complication due to nutritional deficiencies. We present three cases of severe, acute, nutritional neuropathy occurring after gastric bypass surgeries.

We retrospectively reviewed charts of three patients with acute to subacute neuropathies following gastric bypass surgeries presenting over one year to UTHealth. Data regarding clinical presentation, electrophysiology, diagnostic studies and outcomes are collected. We identified three patients with acute, disabling, ascending numbness and weakness. All patients had intractable vomiting and significant rapid weight loss. Electrodiagnostic studies revealed axonal sensory-motor neuropathy. Cerebrospinal fluid (CSF) studies did not show albuminocytologic dissociation. Two patients were treated with immunomodulation. Nutritional deficiencies were identified as the etiology in all patients. Further reports and research may prevent unnecessary and costly immunomodulatory treatments.

Primary vertebral epithelioid osteosarcoma is an extremely rare malignancy, characterized by predominant epithelioid cells and occurs mainly in adolescents and young adults. To our knowledge, only one previous report described a lumbar vertebral epithelioid osteosarcoma including the clinical information, pathologic features and immunohistochemical profile. This report is a first case of primary epithelioid osteosarcoma arising in the eighth thoracic vertebrae (T8) in middle aged man. Whole body scans as well as histological and immunohistochemical examinations were performed for excluding the possibility of metastatic malignancy or secondary osteosarcoma. Metastatic lesions showing the same morphological and immunohistochemical characteristics were demonstrated at the fifth lumbar vertebra (L5) and sternum were described 1 year after excision and high dose of Methotraxate (MTX) chemotherapy.

Fibrous dysplasia (FD) is a rare osseous pathology of unknown origin in which normal bone is replaced by fibro-osseous tissue. Recent research has linked FD to a somatic mutation in the protein transcription of the GNAS1 gene, which leads to an increase in intracellular cyclic adenosine monophosphate. FD represents 3% of all bony tumors and over 7% of all non-malignant bone tumors. FD has various clinical presentation groups such as the monostotic, craniofacial and polyostotic forms, and the McCune-Albright syndrome. We present a craniofacial FD case of a 45-year-old female patient, who underwent surgical treatment many times.

Introduction: Lung cancer remains a leading cause of cancer deaths worldwide, and an estimated 50% of cases are associated with metastasis at the time of diagnosis. We present the case of a 45-year-old female smoker with a history of right upper lobectomy with radiation for lung adenocarcinoma who, nine months later, presented with abdominal pain and was found to have an isolated metastatic lesion to the cecum causing intussusception.

Case description: A 45-year-old woman presented with a two-day history of abdominal pain, melena, fever, and chills. A diagnostic workup revealed a mass in the cecum and a colocolic intussusception. The patient underwent right hemicolectomy and was discharged following a slow recovery. Microscopic examination of the lesion revealed an adenocarcinoma histologically identical to the primary lung tumor. Further workup failed to uncover any further evidence of disease. The patient continues to be well after 23 years of clinical follow-up.

Discussion: Metastasis to the colon is a rare event but represents advanced disease and the prognosis is poor. Symptomatic involvement of the colon has only been reported in fourteen previous cases.

Conclusions: Although uncommon, metastatic disease from lung to colon should be considered in patients with lung and large bowel masses diagnosed within a relatively short time course. More likely are synchronous primaries or colon metastasis to the lung, but an accurate diagnosis is critical. Lung metastasis to the bowel portends a poor prognosis, but isolated metastatic disease can be surgically resected for cure as demonstrated in our case.

Background: Isolated Adenocorticotropin Hormone (ACTH) deficiency is a rare disorder, characterized by secondary adrenal insufficiency with a low or absent cortisol production, normal secretion of other pituitary hormones and absence of structural pituitary defects.

Case summary: The patient was the product of a 28 weeks gestation, clomiphen induced to a 40-year-old, gestational diabetic mother. He was ventilated for 30 days, and was diagnosed to have grade IV Retina of Prematurity (ROP). He suffered from recurrent attacks of hypoglycemic, blood sugar of 1.6 mmol/L, low serum cortisol 65 nmol/L (normal; 150-630), and ACTH of 1.5 pmol/L (normal; 1.6-13.9), with suppressed serum insulin and normal thyroid, growth hormone and gonadal functions. Magnetic Resonance Imaging (MRI) was unremarkable. He was started on hydrocortisone 2.5 mg twice daily for two years, which was then slowly tapered and stopped. Later Serum cortisol was 175 nmol/L, and ACTH of 5.5 pmol/L with a normal shot ACTH stimulation test.

Conclusions: This case of a premature baby who presented with recurrent hypoglycemia had an isolated ACTH deficiency that proved to be transient. The pediatricians need to be aware of the existence of such condition.

Intramuscular hemangioma is a benign tumor representing 0.8% of all hemangiomas. Rarely intramuscular hemangioma presents with massive ossification in the mass that can be misleading and cause misdiagnoses, and unnecessary workups. We describe a case of intramuscular hemangioma with massive ossification in the left thigh of a 54-year-old man presented with pressure symptoms while exercising.

Background: Niemann-Pick’s type B (NP-B) disease is a rare, autosomal recessive visceral storage disorder related to a lysosomal accumulation of sphingomyelin, which is caused by mutations in the sphingomyelinase gene, SMPD1.

Case report: We present a boy who had normal early development, but from one year of age, he showed progressive manifestations of hepatosplenomegaly, somatomotor retardation and cardiopulmonary dysfunction. The activity of the sphingomyelinase enzyme was very low in his fibroblasts. He died at 17 years of age from cardio-respiratory insufficiency. Gross pathology and histology of the internal organs were compatible with Niemann-Pick’s disease. His brain and spinal cord displayed no signs of storage disease, confirming the subtype of NP-B. Unexpectedly, however, significant accumulation of iron was seen in the substantia nigra, subthalamic nuclei, putamen, globus pallidus and some cortical regions accompanied by axonal spheroids. Brain iron accumulation is the hallmark of a disease group termed neurodegeneration with brain iron accumulation (NBIA). Sequencing of the known NBIA disease genes was unsuccessful in the proband’s DNA isolated from formalin-fixed, paraffin-embedded blocks, but both asymptomatic parents were heterozygous carriers of the same c19orf12 deletion.

Conclusions: This case initially raised the question as to whether two rare autosomal recessive disorders, NP-B and a subtype of NBIA could have co-occurred in our patient, or the lipid dysmetabolism due to sphingomyelinase deficiency caused secondary brain iron accumulation. Genetic analyses in the parents suggested the former possibility by identifying a c19orf12 gene deletion known to underlie in homozygous state Mitochondrial Membrane Protein Associated Neurodegeneration.

We report a case of congenital cutaneous candidiasis (CCC) progressing to candidemia in an extremely low birth weight infant. A high level of suspicion concerning candida sepsis as well as timely diagnostic work-up and treatment can be lifesaving when a preterm infant presents with lesions suggestive of congential cutaneous candidiasis.