McCune-Albright syndrome - A case report with transmission electron microscopy

Abstract McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.

McCune-Albright syndrome - A case report with transmission electron microscopy.

McCune - Albright syndrome is a genetic disease with cutaneous mosaicism caused by post-zygotic activating mutations in GNAS locus, it has a triad of fibrous bone dysplasia, café-au-lait macules and precocious puberty. We examined a 22-year-old female patient with café au lait spot in right side of the abdomen, with a chessboard - like distribution, extending to right thigh with geographical contours, she has also an ovarian cyst, scoliosis and truncal obesity. Biopsies were taken from the hyperpigmented area and processed for light microscopy and for transmission electron microscopy. Light microscopy showed increased melanin pigment with HE staining. Immunohistochemistry with melanocytic markers (HMB-45 and Melan-A) revealed a normal number of melanocytes. Transmission electron microscopy demonstrated normal epidermal structures, such as desmosomes, cytokeratin filaments and hemidesmosomes. With high magnifications an irregular melanossomal contour was seen, with some indentations in their outline.

Transmission and scanning electron microscopy of cutis rhomboidalis

Abstract Cutis rhomboidalis nuchae was assessed in a 65-year-old patient. Optical microscopy showed basophilic agglomerations in the reticular dermis with decreased elastic fibers. Trans- mission electron microscopy showed elongated, curved and fragmented structures, and in their interior the presence of electron-dense lumps was reduced and irregular, similar to modified elastic fibers, whereas the collagen fibers had a normal aspect. Scanning electron microscopy showed deposits between the bundles of collagen, resembling pebbles or stones. These findings demonstrate that, at one stage of the disease, the collagen remains normal and the alterations are seen in the elastic tissue.

Transmission and scanning electron microscopy of cutis rhomboidalis.

Cutis rhomboidalis nuchae was assessed in a 65-year-old patient. Optical microscopy showed basophilic agglomerations in the reticular dermis with decreased elastic fibers. Transmission electron microscopy showed elongated, curved and fragmented structures, and in their interior the presence of electron-dense lumps was reduced and irregular, similar to modified elastic fibers, whereas the collagen fibers had a normal aspect. Scanning electron microscopy showed deposits between the bundles of collagen, resembling pebbles or stones. These findings demonstrate that, at one stage of the disease, the collagen remains normal and the alterations are seen in the elastic tissue.

Scanning electron microscopy of dermatofibroma.

Dermatofibroma is a proliferation of spindle cells located in the dermis. We used scanning electron microscopy to examine two histologically confirmed lesions and observed preserved collagen bundles in the perilesional area. In the lesional area, the collagen was denser, without formation of bundles. Higher magnification showed collagen with mesh-like appearance similar to stretched tufts of cotton. Very high magnification evidenced the tufts of cotton and spindle cells measuring 2 to 12 microns.

Scanning electron microscopy of dermatofibroma

Abstract: Dermatofibroma is a proliferation of spindle cells located in the dermis. We used scanning electron microscopy to examine two histologically confirmed lesions and observed preserved collagen bundles in the perilesional area. In the lesional area, the collagen was denser, without formation of bundles. Higher magnification showed collagen with mesh-like appearance similar to stretched tufts of cotton. Very high magnification evidenced the tufts of cotton and spindle cells measuring 2 to 12 microns.

Ultrastructural aspects of pseudoxanthoma elasticum.

We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected skin showed strong alterations in the mid-dermis with irregular clumps of eosinophilic material and loss of the normal parallel arrangement of collagen bundles. Orcein staining revealed that the elastic fibers lost their normal linear configuration, showing clump fragmentation, sometimes forming square structures. Transmission electron microscopy showed aberrant elastic fibers with an irregular outline and heterogenic inner structures. We also observed small elastic fibers. Collagen fibers showed a normal structure with irregular distribution. Scanning electron microscopy revealed important disorganization of collagen fibers and small stone-like deposits measuring around 5 µm associated with bigger structures ranging from 10-16 µm. Higher magnification revealed that these small stone-like structures were sometimes polyhedral-shaped or squared.

Ultrastructural aspects of pseudoxanthoma elasticum

Abstract: We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities. Ophthalmological examination, electrocardiogram, and echocardiogram were normal. Hematoxylin-eosin staining of the affected skin showed strong alterations in the mid-dermis with irregular clumps of eosinophilic material and loss of the normal parallel arrangement of collagen bundles. Orcein staining revealed that the elastic fibers lost their normal linear configuration, showing clump fragmentation, sometimes forming square structures. Transmission electron microscopy showed aberrant elastic fibers with an irregular outline and heterogenic inner structures. We also observed small elastic fibers. Collagen fibers showed a normal structure with irregular distribution. Scanning electron microscopy revealed important disorganization of collagen fibers and small stone-like deposits measuring around 5 µm associated with bigger structures ranging from 10-16 µm. Higher magnification revealed that these small stone-like structures were sometimes polyhedral-shaped or squared.

Meningioma cervical intramedular: um relato de caso raro / Intramedullary Cervical Spinal Cord Meningioma: A Rare Case Report

O meningioma intramedular é uma entidade relatada clinicamente de forma rara, tendo apenas nove relatos. Neste estudo, descrevemos o caso de um paciente masculino, 67 anos, com evolução de 25 anos, severos déficits motores, sensitivos e autonômicos. O diagnóstico foi confirmado por ressonância magnética mostrando uma massa intramedular central ao nível de C6-C7. O paciente foi submetido à microneurocirurgia com monitoração neurofisiológica, obtendo-se ressecção total e em bloco da lesão tumoral. Os achados histopatológicos e imuno-histoquímicos confirmaram meningioma angiomatoso com expressão multifocal de GFAP e de neurofilamento. O transoperatório ocorreu sem intercorrências, mas, quinze dias após, o paciente evoluiu com piora motora à esquerda. Apesar de extremamente raros, os meningiomas devem ser considerados um diagnóstico possível de tumoração intramedular.

Intramedullary meningioma is a rarely reported clinical entity, with only 9 cases reported to date. We describe a male patient, 67 years old, with 25 years of evolution and severe motor, sensory, and autonomic deficits. Preoperative magnetic resonance imaging (MRI) showed an intramedullary mass at the C6-C7 level. The patient underwent microneurosurgery and neurophysiological monitoring confirmed total in bloc resection. The histopathological and immunohistochemical findings confirmed angiomatous meningioma with multifocal expression of glial fibrillary acidic protein (GFAP) and neurofilament. Trans-operative was uneventful and, fifteen days later, he Costa et al.

Paracoccidioidomycosis in southern Rio Grande do Sul: a retrospective study of histopathologically diagnosed cases.

Paracoccidioidomycosis (PCM) is a systemic mycosis caused by the fungus Paracoccidioides brasiliensis and is endemic to Brazil. The aim of this study was to perform a retrospective analysis of the PCM cases in the countryside south of Rio Grande do Sul, Brazil. The files from four histopathology laboratories located in the city of Pelotas were obtained, and all of the epidemiological and clinical data from the PCM diagnosed cases were collected for analysis. A total of 123 PCM cases diagnosed between 1966 and 2009 were selected. Of these patients, 104 (84.5%) were male, and 17 were female. The patients ranged from 02 to 92 years of age. Fifty-two cases (41.9%) were obtained from the oral pathology laboratory, and the remaining 71 cases (58.1%) were obtained from the three general pathology laboratories. Of all of the patients studied, 65.2% lived in rural zones and worked in agriculture or other related fields. Data on the evolution of this disease was available for 43 cases, and the time frame ranged from 20 to 2920 days (mean = 572.3 days). An accurate diagnosis performed in less than 30 days only occurred in 21% of the cases. PCM is endemic to the countryside of Rio Grande do Sul. Therefore, it is recommended that PCM be included as a differential diagnosis, mainly for individuals between 30 and 60 years of age, living in rural zones and who have respiratory signs and associated-oropharyngeal lesions.

Paracoccidioidomycosis in southern Rio Grande do Sul: a retrospective study of histopathologically diagnosed cases

Paracoccidioidomycosis (PCM) is a systemic mycosis caused by the fungus Paracoccidioides brasiliensis and is endemic to Brazil. The aim of this study was to perform a retrospective analysis of the PCM cases in the countryside south of Rio Grande do Sul, Brazil. The files from four histopathology laboratories located in the city of Pelotas were obtained, and all of the epidemiological and clinical data from the PCM diagnosed cases were collected for analysis. A total of 123 PCM cases diagnosed between 1966 and 2009 were selected. Of these patients, 104 (84.5%) were male, and 17 were female. The patients ranged from 02 to 92 years of age. Fifty-two cases (41.9%) were obtained from the oral pathology laboratory, and the remaining 71 cases (58.1%) were obtained from the three general pathology laboratories. Of all of the patients studied, 65.2% lived in rural zones and worked in agriculture or other related fields. Data on the evolution of this disease was available for 43 cases, and the time frame ranged from 20 to 2920 days (mean = 572.3 days). An accurate diagnosis performed in less than 30 days only occurred in 21% of the cases. PCM is endemic to the countryside of Rio Grande do Sul. Therefore, it is recommended that PCM be included as a differential diagnosis, mainly for individuals between 30 and 60 years of age, living in rural zones and who have respiratory signs and associated-oropharyngeal lesions.

Paracoccidioidomycosis in southern Rio Grande do Sul: a retrospective study of histopathologically diagnosed cases

Paracoccidioidomycosis (PCM) is a systemic mycosis caused by the fungus Paracoccidioides brasiliensis and is endemic to Brazil. The aim of this study was to perform a retrospective analysis of the PCM cases in the countryside south of Rio Grande do Sul, Brazil. The files from four histopathology laboratories located in the city of Pelotas were obtained, and all of the epidemiological and clinical data from the PCM diagnosed cases were collected for analysis. A total of 123 PCM cases diagnosed between 1966 and 2009 were selected. Of these patients, 104 (84.5%) were male, and 17 were female. The patients ranged from 02 to 92 years of age. Fifty-two cases (41.9%) were obtained from the oral pathology laboratory, and the remaining 71 cases (58.1%) were obtained from the three general pathology laboratories. Of all of the patients studied, 65.2% lived in rural zones and worked in agriculture or other related fields. Data on the evolution of this disease was available for 43 cases, and the time frame ranged from 20 to 2920 days (mean = 572.3 days). An accurate diagnosis performed in less than 30 days only occurred in 21% of the cases. PCM is endemic to the countryside of Rio Grande do Sul. Therefore, it is recommended that PCM be included as a differential diagnosis, mainly for individuals between 30 and 60 years of age, living in rural zones and who have respiratory signs and associated-oropharyngeal lesions.(AU)

Extensive hydroa vacciniforme.

Hydroa Vaciniforme is a very rare photodermatosis that is mainly seen in childhood. An 18 year old female student reported that since the age of 5 she has been suffering necrotic lesions and vesicles lesions in exposed areas, leaving asymptomatic varioliform scars, which worsened in summer. Light microscopy showed epidermal necrosis with lymphocytic infiltration . Sunscreens were prescribed with light improvement.

Extensive hydroa vacciniforme / Hidroa vaciniforme extensa

Hydroa Vaciniforme is a very rare photodermatosis that is mainly seen in childhood. An 18 year old female student reported that since the age of 5 she has been suffering necrotic lesions and vesicles lesions in exposed areas, leaving asymptomatic varioliform scars, which worsened in summer. Light microscopy showed epidermal necrosis with lymphocytic infiltration . Sunscreens were prescribed with light improvement.

O Hidroa Vaciniforme é uma fotodermatose muito rara vista geralmente na infância. Uma paciente de 18 anos foi examinada, a qual apresenta lesões vesiculosas e necróticas varioliformes nas áreas fotoexpostas, que evoluem para cicatrizes atróficas, piorando no verão. A microscopia óptica mostrou necrose epidérmica com infiltrado linfocítico. Houve pouca melhora com uso de filtros solares.

Linfoma não-Hodgkin de cordão espermático / Non-Hodgkin's lymphoma of the spermatic cord

Non-Hodgkin´s lymphoma of the spermatic cord are rare. There is the registration of 14 (fourteen) cases of spermatic cord lymphoma in the literature, all treated with radical orchiectomy with or without radiotherapy. The adjuvant chemotherapy still is not a consensus, therefore the therapy must be individualized and applied according to the stage of the disease. The present study report a new case of primary non-Hodgkin´s lymphoma of the spermatic cord treated with radical orchiectomy through inguinal via with precocious ligature of the spermatic cord and adjuvant chemotherapy. Presently found with 2 and a half years of follow-up without recidivation clinical evidence, as the image exams show to be normal.

[Non-Hodgkin's lymphoma of the spermatic cord]. / Linfoma não-Hodgkin de cordão espermático.

Non-Hodgkin s lymphoma of the spermatic cord are rare. There is the registration of 14 (fourteen) cases of spermatic cord lymphoma in the literature, all treated with radical orchiectomy with or without radiotherapy. The adjuvant chemotherapy still is not a consensus, therefore the therapy must be individualized and applied according to the stage of the disease. The present study report a new case of primary non-Hodgkin s lymphoma of the spermatic cord treated with radical orchiectomy through inguinal via with precocious ligature of the spermatic cord and adjuvant chemotherapy. Presently found with 2 and a half years of follow-up without recidivation clinical evidence, as the image exams show to be normal.

The many faces of phytophotodermatitis.

Phytophotodermatitis is a common cutaneous phototoxic reaction produced by contact with a variety of plant substances, followed by sunlight exposure. Phytophotodermatits can simulate child abuse, impetigo, superficial lymphangitis, and larva migrans. The most frequent presentation is hyperpigmentation of the dorsum of the hands, but there are other less common findings such as blisters or lesions mimicking solar lentigines and melasma.

Congenital erythropoietic porphyria in two siblings.

Congenital erythropoietic porphyria is a very rare autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthetase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity. Two male siblings, aged 43 and 29, are described. The oldest shows severe sclerodermiform mutilation and the youngest exhibits initial involvement with hypertrichosis. Laboratory investigation shows polycythemia, increased urine uroporphyrins and coproporphyrins and increased erythrocyte porphyrins.