Erythematous nodular lesion on the chest of an infant.

An 11-month-old girl presented with an erythematous nodule on the chest, which had been growing for 8 months. The tumor was composed of uniform polygonal and spindle-shaped cells, forming nodules and fascicles. The diagnosis of neurothekeoma was based upon the histology and immunohistochemistry.

Congenital plaque-like glomangioma treated successfully with dual wavelength pulsed-dye and neodymium:yttrium-aluminum-garnet laser.

Glomovenous malformations are disseminated variants of cutaneous glomus tumors. These malformations are subdivided into regional or localized, disseminated, and congenital plaque-like forms. The congenital plaque-like form is the rarest variant. Most treatment modalities have been disappointing in the treatment of large glomangiomas, leading to high recurrence rates. We report a case of a 34-year-old man with a congenital plaque-like glomangioma on his left arm and forearm treated successfully with sequential pulsed-dye neodymium yttrium aluminum garnet laser.

Benign cutaneous neural tumors.

Benign cutaneous neural neoplasms are one of the most frequent benign mesenchymal tumors in the skin. Because peripheral sheath nerve is composed of different cells, the tumors raised in these structures are varied and usually contain many of these cells. Most of these tumors are easy to diagnose, as usually present characteristic features well-recognized and express -specific immunohistochemical proteins. However, there are so many infrequent variants that many times require distinction from others spindle-cell tumors including melanoma. The tumors differ from one another by displaying a different proportion and arrangement of the various constituents of a peripheral nerve. In this article, we present the most characteristic clinical and histopathological features of many of these frequent benign cutaneous neural tumors including their uncommon variants.

Clinical and pathological features of Merkel cell carcinoma: A 4-year follow-up observational retrospective study in Spain.

BACKGROUND: Merkel cell carcinoma (MCC) is a malignant skin cancer with a 5-year survival rate of approximately 50%. Knowledge of MCC has increased in recent years mostly due to improved diagnosis techniques. In Spain there is lack of information regarding the incidence and tumour characteristics, and the treatment approaches are not standardised. The objective of this study was to provide information of the clinical and epidemiological characteristics of MCC patients in Spain. METHODS: Retrospective, observational study involving 192 patients from 25 Spanish hospitals. Evaluated variables included overall survival and incidence rate of Merkel cell polyomavirus, in patients diagnosed from 2012 to 2016. RESULTS: The Spanish incidence rate was estimated 0.32/100,000 inhabitants/year, with variations according to geographical regions, being slightly higher in areas with greater sunlight exposure. In total, 61.5% of tumours showed expansive growth (progressive growth of the tumour), 78.6% showed localisation in UV-exposed skin. 97.4% of patients were diagnosed by excisional biopsy. Surgery was the first line treatment in 96.6% of patients, radiotherapy in 24.6%, and chemotherapy in 6.3%. These treatments were not mutually exclusive. Median overall survival was 38.3 months (78.4% at 12 months and 60% at 24 months). MCPyV was present in 33.8% of patients. CONCLUSION: The incidence of MCC in Spain is one of the highest in Europe, with a slight predominance in men. The sample has shown that a biopsy is available for diagnosis in most cases. Moreover, the treatment is surgical when the tumour is localized and is associated with lymphadenectomy, and/or it is radiotherapy if widespread.

TERT promoter mutation in sebaceous neoplasms.

TERT promoter (TERTp) mutations widely occur in multiple human neoplasms, and they have been related to different clinicopathological features. To date, this mutation has not been identified in sebaceous tumors. Here, we analyzed TERTp mutations in 91 sebaceous neoplasms (17 adenomas, 45 sebaceomas, and 29 carcinomas). We detected mutations in 26.7% (8 of 29) of sebaceous carcinomas by pyrosequencing and Sanger sequencing. No mutation was detected in adenomas or sebaceomas. The difference was significant between sebaceoma and carcinoma. The most frequent TERTp mutations were C228T and C250T in 37.5% (3 of 8) of mutated cases each one. The mutation was not associated with poor clinical evolution. Using NGS, 20 of 29 (68.5%) sebaceous carcinomas harbored mutations in 8 of the 30 genes analyzed (TP53, TERTp, EGFR, ATRX, PDGFRA, CDKN2A, PTEN, and ACVR1). With immunohistochemistry, only 1 of 8 (12.5%) TERTp-mutated carcinomas lacked mismatch repair (MMR) protein expression compared to 6 of 21 (31.6%) of non-mutated ones. Sebaceous carcinomas with MMR protein expression had significantly higher frequency of total mutations and TP53 and TERTp mutations than MMR protein-deficient carcinomas. In conclusion, TERTp mutation has been detected in sebaceous carcinomas, and its presence could be useful to differentiate sebaceous carcinoma from sebaceoma, a difficult histopathological challenge.

Cutaneous composite hemangioendothelioma with satellitosis and lymph node metastases.

The term hemangioendothelioma has been used in recent years to name a heterogeneous group of vascular neoplasms, intermediate in both biological behavior and histopathologic appearance between benign tumors (hemangiomas) and frankly malignant tumors (angiosarcomas). Thus, within the spectrum of hemangioendothelioma have been successively included epithelioid hemangioendothelioma, spindle cell hemangioendothelioma, retiform hemangioendothelioma, kaposiform hemangioendothelioma, polymorphous hemagioendothelioma of the lymph nodes, papillary intralymphatic angioendothelioma (PILA) and composite hemangioendothelioma. The latter is a vascular neoplasm showing varying combinations of benign, low-grade malignant and malignant vascular components. We herein report a case of composite hemangioendothelioma showing a combination of retiform hemangioendothelioma, epithelioid hemangioendothelioma, spindle cell hemangioma and PILA. The neoplasm showed a more aggressive behavior than other reported cases of composite hemangioendothelioma and it developed satellitosis and metastases to the inguinal lymph nodes. Neoplastic cells expressed immunoreactivity for Prox-1, supporting a lymphatic line of differentiation.

Superficial thrombophlebitis.

Superficial thrombophlebitis (STP) is a common disease usually characterized by an auto-resolving vasculitis of medium-sized veins of the upper subcutis or deep dermis that clinically manifests as a tender or painful palpable cord-like structure. It usually occurs in the setting of varicous veins, or hypercoagulable states, and may be the alarm signal for an underlining silent cancer. STP mainly involves the legs, but special locations, including the anterior chest wall or the penis, characterize specific clinical forms (Mondor's disease). The clinical signs and symptoms usually allow an easy diagnosis, but complementary techniques and biopsy are sometimes required. The main histopathologic differential diagnosis of STP is cutaneous polyarteritis nodosa.

Erythema nodosum leprosum: reactional leprosy.

The different clinical forms of leprosy are mainly related to the variety of immunological responses to the infection. Thus, lepromatous leprosy occurs in patients with a poor cell-mediated immunity to Mycobacterium leprae, whereas tuberculoid leprosy is associated with a high resistance to leprosy bacillus. Intermediate forms, including borderline tuberculoid leprosy, borderline lepromatous leprosy, and borderline leprosy, are a continuous and unstable spectrum of the disease. Leprosy reactions are rare and not well-known states that interrupt the usual chronic course and clinical stability of patients with leprosy. They are expressions of immunological perturbations. Attending to the clinical and histopathological manifestations, leprosy reactions may be separated in 2 or 3 different variants: reverse reaction (type I), erythema nodosum leprosum (type II), erythema polymorphous (type II) and Lucio's phenomenon, mainly considered a type II reaction, but sometimes designated type III. Type I leprosy reaction, also named "upgrading reaction," occurs in borderline leprosy states and is associated with a shift toward the tuberculoid pole. Type II reaction usually occurs in lepromatous leprosy, and there are 3 different clinical variants, including erythema nudosum leprosum, erythema polymorphous-like reaction, and Lucio's phenomenon.

Systemic inflammatory response syndrome associated with Sweet's syndrome.

PURPOSE: To describe the first pediatric report of systemic inflammatory response syndrome, shock, and multiple organ dysfunction syndrome associated with Sweet's syndrome. DESIGN: Case report. SETTING: Pediatric intensive care unit. PATIENTS: A patient with Sweet's syndrome and multiple organ dysfunction syndrome. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We report the case of a 7-yr-old female child with an acute nonlymphoblastic leukemia in complete remission after an autologous bone marrow transplantation, with a clinical picture of skin lesions and fever that met the criteria of Sweet's syndrome and developing systemic inflammatory response syndrome, septic shock, and multiple organ dysfunction syndrome. Her clinical condition worsened despite broad-spectrum antimicrobial therapy and standard measures of cardiovascular support. An infectious site could not be identified, and all culture results were negative. Her condition improved dramatically once steroid therapy was administered, and she made a full recovery. CONCLUSION: Although it is a rare condition, the diagnosis of Sweet's syndrome must be considered in a patient with the typical skin lesions and systemic inflammatory response syndrome. The correct diagnosis is of great clinical importance, because therapy with systemic steroids results in a fast and remarkable improvement.

Psammomatoid ossifying fibromas: immunohistochemical analysis and differential diagnosis with psammomatous meningiomas of craniofacial bones.

OBJECTIVE: To clarify the role of immunohistochemistry in the diagnosis of psammomatoid ossifying fibroma (PSOF), conventional cemento-ossifying fibroma (COF), and psammomatous meningioma (PM) of the craniofacial skeleton. STUDY DESIGN: The histology and immunohistochemistry of 4 PSOFs, 6 COFs, and 7 PMs was studied. Antibodies included EMA, cytokeratins, smooth muscle actin (SMA), desmin, vimentin, CD34, CD10, S-100 protein, and glial fibrillary acidic protein (GFAP). RESULTS: All PSOFs showed multiple round ossicles homogeneously distributed within a fibroblastic stroma. Psammomatous meningiomas had meningothelial features. All tumors, except 1 COF, were positive for EMA. All of them expressed vimentin, and none showed cytokeratins. Staining for SMA and S-100 protein was variable. CD10 was positive in all cases except 2 meningiomas. CD34 and GFAP stained only 1 case of meningioma each. CONCLUSIONS: The diagnosis of PSOF should rest on histologic features. An incorrect diagnosis of meningioma based on the expression of EMA should be avoided.