The Facial Osteoplasty for Polyostotic Fibrous Dysplasia in a Patient With McCune-Albright Syndrome: A Case Report.

Fibrous dysplasia is a developmental anomaly that affects bone maturation and remodeling, generating replacement of medullary and cortical bone by a disorganized and immature fibro-osseous matrix, which makes the sufferer susceptible to bone pain, skeletal deformities, and pathological fractures. This is a condition that, when associated with cutaneous hyperpigmentation and endocrinological disorders, forms the classic triad of McCune-Albright syndrome, a rare multisystemic pathology formed by postzygotic somatic mutations of the GNAS gene. Fibrous dysplasia can even cause loss of vision, hearing, or difficulty breathing. The severity of these manifestations is associated with the type of treatment, which can be conservative or surgical. The surgical approach is adapted to each particularity and it aims mainly to resolve functional restrictions or correct aesthetic deformities through bone plasty. The present work aims to report the case of a McCune-Albright syndrome patient with deforming craniofacial fibrous dysplasia that triggers respiratory compromise. After clinical and tomographic evaluation, it was decided to remove and reshape the bone affected in the maxilla through the Weber-Ferguson approach and the mandible through the modified Newman approach. The case progressed satisfactorily, with an improvement in the respiratory condition and a reduction in facial asymmetry.

Desmoplastic melanoma: an updated immunohistochemical analysis of 40 cases with a proposal for an additional panel of stains for diagnosis.

Desmoplastic melanoma (DM) is histologically characterized by a proliferation of spindle melanocytes dispersed in a collagenous stroma that can be mistaken for a variety of neoplasms. The purpose of this study was to analyze 40 cases of DM with a comprehensive panel of immunohistochemical markers (KBA.62, p16, Ezrin, WT-1, MITF-1, SOX-10, CD117, SOX-2, nestin, PNL2, p75, MART-1, gp100 and S100p) to obtain a more complete understanding of the potential use of these antibodies in the diagnosis of DM. We found that all cases of DM expressed p16, WT-1, SOX-10, nestin and S100p and 95% of cases expressed p75. There was variable expression with Ezrin, SOX-2, KBA.62, MART-1 and HMB-45. Most DMs did not express MITF-1, PNL2 and CD117. Conditions that may enter in the histologic differential diagnosis of DM, including dermal scars, fibromatosis and dermatofibromas were also studied. Nearly all control cases also stained positive for p16 but were negative for WT1, SOX10, nestin, p75 and S-100p, as well as for most of the other markers tested. We conclude that a panel of S-100p, WT1, SOX10, p75 and nestin may constitute the optimal panel with the most sensitive and specific combination of immunostain available for the diagnosis of DM.

Clinicopathologic findings and BRAF mutation in cutaneous melanoma in young adults.

Cutaneous melanoma in young patients is rare with increasing incidence. It is not clear whether the etiology and clinical outcome are similar to cutaneous melanoma in the elderly. Mutations in BRAF gene in patients with cutaneous melanoma, in general, range in frequency from 20% to 80%; however, the status and clinical significance of BRAF mutations in the young population have not been evaluated. We investigated 132 cases of primary cutaneous melanoma in patients aged between 18 and 30 years with emphasis on clinical characteristics, pathologic features, and molecular evaluation of mutation in the BRAF gene (BRAF(V600E)). It was predominantly seen in female individuals (61.4%), trunk was the most common site of involvement (40.4%), and superficially spreading melanoma was the predominant histologic type (79.5%). Mutation in BRAF(V600E) was analyzed successfully in 93 cases using an RT-PCR. The BRAF(V600E) mutation was identified in 38.7% (36/93) and was associated with vertical growth phase (P=0.01) and mild inflammatory infiltrate (P=0.02). No case of melanoma with regression phenomenon presented with BRAF(V600E) mutation (P<0.05). There was no significant association between BRAF(V600E) mutation and sex, histologic type, the Clark level, the Breslow index, solar elastosis, angiolymphatic and perineural invasion, satellitosis, and coexisting nevus. As in melanomas in older patients, these results probably indicate that BRAF mutation may not be the only key factor in melanoma tumorigenesis, and that there should be multiple alternative genetic pathways related to melanoma.

Avaliação anatomoclínica e molecular do melanoma cutâneo em pacientes jovens (idade 18-30 anos) / Clinicopathologic and molecular evaluation of cutaneous melanoma in young patients (age 18-30)

A incidência do melanoma cutâneo em pacientes adultos jovens tem aumentado consideravelmente nos últimos anos. Há, contudo, carência de conhecimentos clinicopatológicos e moleculares sobre os melanomas que ocorrem nessa faixa etária. O presente estudo teve por objetivo avaliar 132 casos de melanoma cutâneo primário em pacientes com idade entre 18 e 30 anos, com ênfase no estudo das características clínicas, histopatológicas e avaliação molecular das mutações nos genes BRAF, NRAS e KIT. Em relação aos achados clínicos e histopatológicos, houve predomínio de indivíduos do sexo feminino (61,4%), sendo o tronco o sítio anatômico mais comumente envolvido (44,3%) e o melanoma extensivo superficial o tipo histológico predominante (79,5%). A mutação V600E no gene BRAF (BRAFV600E) foi analisada em 93 casos, utilizando-se a técnica de RT-PCR. Essa mutação foi identificada em 38,7% (36/93) e, estatisticamente, associada à fase vertical de crescimento (p = 0,01), infiltrado inflamatório discreto (p = 0,02) e presença de mitose intradérmica (p = 0,004). Houve, ainda, forte indício de associação com a presença de ulceração (p = 0,05). Todas essas variáveis apresentaram associação com pior prognóstico do melanoma cutâneo. Observou-se predomínio da mutação BRAFV600E em regiões anatômicas relacionadas à exposição solar intermitente. Nenhum caso de melanoma com fenômeno de regressão apresentou mutação BRAFV600E (p < 0,05). Não houve associação significativa entre BRAFV600E e sexo, tipo histológico, nível de Clark, índice de Breslow, elastose solar, invasão angiolinfática e perineural, satelitose, nevo melanocítico coexistente e sobrevida. A pesquisa de mutações NRAS, pela técnica de RT-PCR, detectou frequência de 3,95% (3/76). As três mutações encontradas foram do tipo 61K e ocorreram em pacientes do sexo masculino e em região de cabeça e pescoço. As mutações BRAFV600E e NRAS, quando presentes, eram mutuamente exclusivas. A frequência de mutações KIT, analisadas por...

The incidence of cutaneous melanoma in young adults has dramatically increased in recent years. However, there is scarce data about the clinicopathological and molecular characteristics on the melanomas occurring at this age group. The present study aimed to evaluate 132 patients aged between 18 and 30 years with primary cutaneous melanoma with emphasis on the study of clinical, histopathological characteristics and molecular evaluation of mutations in BRAF, NRAS and KIT genes. Regarding the clinical and histopathological findings, the following results were found: female predominance (61.4%), trunk was the most commonly anatomical site involved (44.3%) and superficial spreading melanoma, was the most common histological type (79.5 %). The V600E mutation in BRAF (BRAFV600E) gene was analyzed in 93 cases, using RT-PCR. It was present in 38.7% (36/93) and statistically related to the vertical growth phase (p = 0.01), mild inflammatory infiltration (p = 0.02) and the presence of intradermal mitosis (p = 0.004). There was, also, strongly evidence of an association with the presence of ulceration (p = 0.05). Worse prognosis was associated with these variables. There was a predominance of BRAFV600E mutation in anatomical regions related to intermittent sun exposure. No cases of melanoma with BRAFV600E mutation showed regression phenomenon (p < 0.05). There was no significant association between BRAFV600E and gender, histological type, Clark level, Breslow thickness, solar elastosis, angiolymphatic and perineural invasion, sattelitosis, coexisting melanocytic nevus and survival. The presence of a mutation in NRAS, by RT-PCR was seen in 3.95% (3/76) of the cases. All these three mutations were of type 61K, occurred in male patients and the head and neck region. BRAFV600E and NRAS mutations, when present, were mutually exclusive. The frequency of KIT mutations, analyzed by sequencing, was 11.1% (3/27). The three mutations identified in this gene were located in...

Granuloma faciale: a rare disease from a dermoscopy perspective.

The granuloma faciale is a rare and benign skin disease of unknown etiology, characterized by chronic leukocitoclastic vasculitis. It is characterized by skin lesions predominantly facial whose course is chronic and slowly progressive. The diagnosis is based on clinical features, histopathology and, more recently, in dermoscopy. We describe the case of a male patient, 40 years old, with a sarcoid lesion on the malar site, whose histopathological examination revealed a mixed inflammatory infiltrate with presence of Grenz zone. Dermoscopy revealed a pink background with white striations. The definitive diagnosis is made by histopathologic evaluation, and dermatoscopy can be helpful. It is known to be resistant to therapy, oral medications, intralesional and surgical procedures are options.

Granuloma faciale: a rare disease from a dermoscopy perspective / Granuloma facial: uma doenca rara sob uma perspectiva dermatoscopica

The granuloma faciale is a rare and benign skin disease of unknown etiology, characterized by chronic leukocitoclastic vasculitis. It is characterized by skin lesions predominantly facial whose course is chronic and slowly progressive. The diagnosis is based on clinical features, histopathology and, more recently, in dermoscopy. We describe the case of a male patient, 40 years old, with a sarcoid lesion on the malar site, whose histopathological examination revealed a mixed inflammatory infiltrate with presence of Grenz zone. Dermoscopy revealed a pink background with white striations. The definitive diagnosis is made by histopathologic evaluation, and dermatoscopy can be helpful. It is known to be resistant to therapy, oral medications, intralesional and surgical procedures are options.

O granuloma facial é doença cutânea rara e benigna, de etiologia desconhecida, caracterizado por vasculite leucocitoclástica crônica. Caracteriza-se por lesões cutâneas predominantemente faciais, tem curso crônico e lentamente progressivo. O diagnóstico é baseado na clínica, histopatologia e, mais recentemente, na dermatoscopia. Relatamos o quadro de um paciente masculino, 40 anos de idade, com lesão sarcoídea na face malar, cujo exame histopatológico revelou infiltrado inflamatório misto com presença de zona de Grenz. A dermatoscopia revelou um fundo rosado com estrias brancas. O diagnóstico definitivo é feito pela avaliação histopatológica, sendo que a dermatoscopia pode ser útil. É conhecida por ser resistente à terapêutica, sendo propostas medicações orais, intralesionais e procedimentos cirúrgicos.

Neuroendocrine tumors involving the gastroenteropancreatic tract: a clinicopathological evaluation of 773 cases.

OBJECTIVE: Description of some of the clinical pathological characteristics of neuroendocrine tumors of the gastroenteropancreatic tract in Brazilian patients. INTRODUCTION: Neuroendocrine tumors arise in many organs and share common pathological features. In 2010, the World Health Organization published a new classification for neuroendocrine tumors using a three-tiered system that applies the terms neuroendocrine tumor Grade 1, neuroendocrine tumor Grade 2, and neuroendocrine carcinoma. The tumor grades are based on their mitotic rate and the Ki-67 index. In Brazil, information on neuroendocrine tumors of gastroenteropancreatic tract is scarce. METHODS: This study investigated clinicopathological features of 773 Brazilian gastroenteropancreatic neuroendocrine tumor cases from all the geographic regions of Brazil. All of the cases emerged from the files of a single institution (a large pathology reference laboratory) between 1997 and 2009. In addition, the gastroenteropancreatic neuroendocrine tumors were graded according to the new 2010 World Health Organization classification. RESULTS: Overall there were a higher number of neuroendocrine tumors in female over male. The lower ages were seen in patients with appendiceal tumors. The most common anatomic location involved was stomach followed by small and large intestines. All cases involving the appendix were of grade 1 and 92.1% of the neuroendocrine tumors of the esophagus were neuroendocrine carcinomas (grade 3). CONCLUSIONS: In this series, the proportion of NET cases in the total number of surgical pathology cases at our institution over the past 12 years is increasing.

Neuroendocrine tumors involving the gastroenteropancreatic tract: a clinicopathological evaluation of 773 cases

OBJECTIVE: Description of some of the clinical pathological characteristics of neuroendocrine tumors of the gastroenteropancreatic tract in Brazilian patients. INTRODUCTION: Neuroendocrine tumors arise in many organs and share common pathological features. In 2010, the World Health Organization published a new classification for neuroendocrine tumors using a three-tiered system that applies the terms neuroendocrine tumor Grade 1, neuroendocrine tumor Grade 2, and neuroendocrine carcinoma. The tumor grades are based on their mitotic rate and the Ki-67 index. In Brazil, information on neuroendocrine tumors of gastroenteropancreatic tract is scarce. METHODS: This study investigated clinicopathological features of 773 Brazilian gastroenteropancreatic neuroendocrine tumor cases from all the geographic regions of Brazil. All of the cases emerged from the files of a single institution (a large pathology reference laboratory) between 1997 and 2009. In addition, the gastroenteropancreatic neuroendocrine tumors were graded according to the new 2010 World Health Organization classification. RESULTS: Overall there were a higher number of neuroendocrine tumors in female over male. The lower ages were seen in patients with appendiceal tumors. The most common anatomic location involved was stomach followed by small and large intestines. All cases involving the appendix were of grade 1 and 92.1 percent of the neuroendocrine tumors of the esophagus were neuroendocrine carcinomas (grade 3). CONCLUSIONS: In this series, the proportion of NET cases in the total number of surgical pathology cases at our institution over the past 12 years is increasing.

Primary cutaneous blastoid mantle cell lymphoma-case report.

Mantle cell lymphoma (MCL) commonly involves extranodal sites, usually as a manifestation of disseminated disease. In rare cases, MCLs may arise as a primary tumor in the skin. Blastoid mantle cell lymphoma (BV-MCL) is a rare variant and has a more aggressive clinical course. The phenotype of BV-MCL is characterized as CD20+, CD5+, cyclin D1+, CD23-, and CD10-. Interphase fluorescence in situ hybridization shows a characteristic t(11;14) fusion pattern. We report a case of a BV-MCL arising in skin as primary cutaneous MCL with the characteristic immunophenotype and translocation.

Cerebral ischemia as initial neurological manifestation of atrial myxoma: case report.

Cerebral infarctions of cardiac etiology are observed in around 20% of patients with ischemic stroke. Cerebral ischemia is the first clinical manifestation in 1/3 of cases of atrial myxomas. Although almost half of patients with atrial myxoma show changes at neurological exam, non-hemorrhagic cerebral infarction is seen in computed tomography in practically all cases. We present the case of a 40 year-old woman whose first clinical manifestation of atrial myxoma was an ischemic stroke. We point out to the possibility of silent cerebral infarction in atrial myxoma patients.

Myxopapillary ependymoma of the posterior mediastinum.

A left paravertebral mass discovered incidentally on routine examination in a 39-year-old woman is described. Computerized tomography studies revealed a 7 x 6 cm, well circumscribed, noncalcified soft tissue mass with lobular borders abutting the left inferior pulmonary vein and descending aorta. It was not possible to determine the exact anatomic location of the mass based on the imaging studies as both peripheral lung tumors and posterior mediastinal lesions may exhibit the imaging findings described here. At thoracotomy, the mass was seen to be well circumscribed, focally attached to the pleura but without involvement of lung parenchyma, and situated in the left posterior mediastinum. On histological examination, the lesion showed the classical features of myxopapillary ependymoma. Immunohistochemical studies confirmed this impression by demonstrating strong positivity of the tumor cells for S-100 protein, glial fibrillary acidic protein, and CD99 and negative staining with other differentiation markers. A review of the literature with a discussion of the histologic and radiologic differential diagnosis of these lesions is presented.

Cerebral ischemia as initial neurological manifestation of atrial myxoma: case report / Isquemia cerebral como manifestação neurológica inicial de mixoma atrial: relato de caso

Cerebral infarctions of cardiac etiology are observed in around 20 percent of patients with ischemic stroke. Cerebral ischemia is the first clinical manifestation in 1/3 of cases of atrial myxomas. Although almost half of patients with atrial myxoma show changes at neurological exam, non-hemorrhagic cerebral infarction is seen in computed tomography in practically all cases. We present the case of a 40 year-old woman whose first clinical manifestation of atrial myxoma was an ischemic stroke. We point out to the possibility of silent cerebral infarction in atrial myxoma patients.

Infartos cerebrais de etiologia cardíaca são observados em cerca de 20 por cento dos pacientes com acidente vascular cerebral isquêmico. Infarto cerebral ocorre como manifestação clínica inicial em um terço dos casos de mixoma atrial. Embora quase metade dos pacientes com mixoma atrial apresente alteração ao exame neurológico, infarto cerebral não hemorrágico é visto na tomografia computadorizada em praticamente todos os casos. Os autores apresentam o caso de uma paciente, cuja primeira manifestação clínica do mixoma atrial foi um acidente vascular cerebral isquêmico e chamam a atenção para a possibilidade de infarto cerebral silencioso em pacientes portadores de mixoma atrial.