Cutis verticis gyrata secundária à paquidermoperiostose. Relato de caso / Cutis verticis gyrata secondary to pachydermoperiostosis - case report

A cutis verticis gyrata é uma condição do couro cabeludo caracterizada por sulcos e dobras profundas, causando o espessamento da pele que lhe dá uma aparência semelhante aos giros do córtex cerebral. Pode ser congênita ou adquirida, e predomina no sexo masculino. É classificada de acordo com sua etiologia primária (essencial e não essencial) e secundária. Descrevemos aqui um caso de cutis verticis gyrata secundária à paquidermoperiostose em paciente do sexo masculino jovem, apresentando suas manifestações clínicas, laboratoriais e radiológicas. Estudo descritivo constando de relato de caso e revisão de literatura nas bases de dados da Biblioteca Virtual de Saúde. Foram obtidos artigos originais científicos nas bases LILACS, SciELO, Scopus e PubMed, buscando-se pelos descritores: "couro cabeludo", "doenças da pele e do tecido conjuntivo", "anormalidades da pele" e "dermatopatias". O limite temporal foi 2010 e as línguas escolhidas foram português, inglês, italiano, espanhol e francês. Paciente do sexo masculino, 25 anos, apresentando hipertrofias lineares em couro cabeludo, acompanhado de dor nas mãos, tornozelos e articulação coxofemoral. Presença de baqueteamento digital e hiperidrose palmoplantar. Trata-se de uma doença rara e progressiva, cuja avaliação clínica é essencial para definir a forma da cutis verticis gyrata e excluir outras síndromes associadas.

Cutis verticis gyrata (CVG) is a scalp condition characterized ridges and deep folds causing thickening of the skin, giving an appearance similar to the cerebral cortex gyri. It can be congenital or acquired, and predominates in males. It is classified according to its primary and secondary etiology (essential and non-essential). A case of Cutis verticis gyrata secondary to pachydermoperiostosis (PQP) is described in a young male patient, with its clinical, laboratory and radiological findings. This is a descriptive study consisting of a case report and review of literature on the Virtual Health Library databases (BVS). Scientific original articles were obtained in LILAC, SciELO, Scopus and PubMed databases, searching the keywords: "scalp", "skin and connective tissue diseases", "skin abnormalities" and "skin diseases" .The time limit was year 2010, and the languages chosen were Portuguese, English, Italian, Spanish and French. Male patient, 25 years old, with linear hypertrophy on the scalp, accompanied by pain in the hands, ankles and hip joint. Presence of digital clubbing, and palmoplantar hyperhidrosis. It is a rare, progressive disease whose clinical assessment is essential to define the type of cutis verticis gyrata, and to rule out other associated syndromes.

Malformação venosa associada a hiperelasticidade cutânea e atrofia do tecido subcutâneo / Venous malformation associated with skin hyperelasticity and subcutaneous atrophy

A rigidez da parede venosa pode aumentar em síndromes em que há uma redução da quantidade de elastina, ocasionando malformações venosas mesmo em indivíduos que possuem mosaicismo para tais síndromes. Casos com apresentação de afecções colagenosas em áreas delimitadas não foram descritos na literatura. O paciente apresentava lesão bem delimitada em região anteromedial da coxa com aumento de elasticidade e presença de vasos tortuosos apenas no local da lesão, não apresentando nenhuma síndrome colagenosa. Foi realizada uma biópsia que evidenciou alterações em relação ao padrão das fibras elásticas e proliferação de vasos sanguíneos. A malformação venosa foi tratada satisfatoriamente com embolização. As doenças do colágeno causam hiperextensibilidade cutânea, o que provoca flacidez e propicia traumas. As colagenoses bem delimitadas são raras, pois geralmente esse grupo de doenças envolve acometimento sistêmico. As malformações vasculares podem ocorrer em diversas doenças do colágeno, mas de forma generalizada e não localizada, e uma explicação para isso seria o mosaicismo genético.

In syndromes that involve reduced quantities of elastin, the rigidity of vein walls may be increased, causing venous malformations, even in people who have mosaicism for these syndromes. There are no previous descriptions in the literature of collagen diseases presenting in specific, delimited areas. The patient described here presented with a lesion restricted to a well-defined area of the anteromedial thigh, in which elasticity was increased and vessels were tortuous, in the area of the lesion only, and with no other signs of collagen syndromes. A biopsy was conducted and the findings included changes to the normal arrangement of the elastic fibers and proliferation of blood vessels. The venous malformation was treated satisfactorily by embolization. Collagen diseases can cause cutaneous hyperextensibility, provoking flaccidity and a propensity to traumatisms. Connective tissue diseases restricted to well-delimited areas are rare, since this group of diseases usually has systemic involvement. Vascular malformations can be seen in many different collagen diseases, but with generalized rather than localized presentation. One possible explanation for the case described here is genetic mosaicism.

Lesões traumáticas de pele causadas pelos espinhos de Mimosa pudica e Mimosa debilis em equídeos / Traumatic skin injuries caused by the thorns of Mimosa pudica and Mimosa debilis in Equidae

Foram realizadas pesquisas sobre a natureza e causa de lesões de pele em equídeos em uma propriedade no município de Castanhal, região Nordeste do Estado do Pará. Foram realizadas visitas técnicas, estudos epidemiológicos, coletas de sangue, biópsias de pele afetada e a inspeção da pastagem. O estudo incluiu 25 equídeos, dos quais 14 machos e 11 fêmeas, de seis meses e oito anos de idade. Os animais apresentaram lesões ulcerativas, de bordos irregulares, na cabeça (narinas, focinho, lábios superiores e inferiores e chanfro), na cavidade oral (vestíbulo bucal e gengiva) e nos membros (boletos, metacarpos e metatarsos e articulação escápulo-umeral). No exame histopatológico foram observados focos de erosões cutâneas, caracterizados por perda e necrose da epiderme, com espongiose, degeneração vesicular da epiderme remanescente e leve infiltrado inflamatório na derme subjacente, constituído predominantemente por macrófagos e, em menor grau, eosinófilos. Na inspeção da pastagem, constituída de Brachiaria humidicola, foi constatada grande invasão de duas plantas providas de espinhos, Mimosa pudica e Mimosa debilis, ambas da família Leg. Mimosoideae. Concluiu-se, que as lesões de pele foram causadas pela ação traumática dos espinhos de Mimosa pudica e Mimosa debilis.(AU)

Studies on the nature and cause of skin lesions in horses on a farm in the county of Castanhal, northeastern Para, Brazil were conducted. These were visits to the farm, epidemiological studies, blood sample collections, skin biopsies, and inspection of the pasture. The study included 25 Equidae, 14 males and 11 females, six months to eight years old. The animals showed ulcerative lesions of irregular borders on the head (nose, muzzle, upper and lower lips), in the oral cavity (buccal vestibule and gum) and on the limbs (billets, metacarpals and metatarsals and scapular-humeral joint). The histopathological examination revealed foci of cutaneous erosions with epidermal necrosis, spongiosis and vesicular degeneration of the remaining epidermis, and mild inflammatory infiltrate in the underlying dermis, consisting predominantly of macrophages and, to a lesser degree, eosinophils. The inspection of the pasture, which consisted of Brachiaria humidicola, revealed a heavy invasion by two plants provided with spines, Mimosa pudica and Mimosa debilis, of the Leguminosae Mimosoideae family. It was concluded that the skin lesions were caused by traumatic action of the spines of Mimosa pudica and Mimosa debilis.(AU)

Escobar syndrome in three male patients of same family.

We describe three male individuals from a consanguineous south Indian family affected with the multiple pterygium syndrome (Escobar syndrome). Common clinical features included short stature, multiple pterygium, skeletal anomalies, and normal intelligence. The first report of this condition was made in 1902 from this same place (Pondicherry) and the disease received its present popular name Escobar syndrome in 1982. The genetic defect for this condition was identified in 2006 as mutation in the fetal acetylcholine receptor.

Cromoblastomicosis por cladophialophora carrionii: primer caso descrito en literatura costarricense / Chromoblastomycosis by cladophialophora carrionii: first case described in Costa Rican literature

La cromoblastomicosis es una infección crónica causada por hongos que afecta principalmente a la piel y el tejido subcutáneo. El mecanismo principal de trasmisión es la inoculación traumática de un grupo específico de hongos dermatofiticos, usualmente fonsecaea pedrosoi, phialophora verrucosa, cladophialophora carrionii, o fonsecae compacta, a través de la piel. Se clasifica dentro del grupo de las micosis subcutáneas. La cromoblastomicosis tiene una distribución mundial, no obstante su incidencia es alta en la zona rural de países con clima tropical o subtropical como el nuestro. En Costa Rica, se han descrito algunos casos en los cuales el agente causal ha sido fonsecae pedrosoi. En este artículo presentamos el primer caso de cromoblastomicosis por cladophialophora carrionii documentado en nuestro país mediante cultivo micológico macro y microscópicamente.

Epidemiología y clínica de las metástasis cutáneas en un hospital de Lima-Perú: Período 1996-2006 / Epidemiology and clinics of cutaneous metastases in a hospitalfrom LimaûPeru. Period 1996-2006

OBJETIVO: Determinar las características epidemiológicas y clínicas de las metástasis cutáneas en el Hospital Nacional EsSalud Edgardo Rebagliati Martins (HNERM) en el período 1996-2006. MATERIAL Y MÉTODOS: Estudio descriptivo de tipo serie de casos. La población de estudio estuvo constituida por los pacientes con diagnóstico de metástasis cutánea en el HNERM entre los años 1996 y 2006; no se realizó muestreo por ser la población pequeña y accesible. Los pacientes fueron seleccionados de acuerdo a criterios de inclusión y exclusión. Se revisó las historias clínicas de los pacientes obteniéndose las características epidemiológicas, clínicas, histopatológicas y supervivencia. RESULTADOS: Se diagnosticó 51 casos de metástasis cutáneas. La edad promedio fue de 65.0 ±15.4 años, el 58.8% correspondió al sexo femenino y el 41.2% al sexo masculino. El 29.4% se situó entre los 70-79 años, el 31.4% tenía diagnóstico previo de cáncer y el 23.5% tenía antecedentes familiares de cáncer. Se diagnosticó la metástasis cutánea antes que la neoplasia maligna primaria en el 67%. Las metástasis tuvieron origen en neoplasias dermatológicas en el 51.0% y en tumores de órganos sólidos en el 49.0% (cánceres de mama, riñón y vejiga). Los pacientes acudieron a consulta por presentar lesiones de tipo nódulo (31.4%) y tumor (9.8%). Las metástasis se localizaron en los varones predominantemente en el tórax posterior (19.0%) y en las piernas (14.3%); mientras que, en el tórax anterior (46.7%) y cuero cabelludo (23.3%) en las mujeres. La mediana de la supervivencia fue de 5.6 años. CONCLUSIONES: En el HNERM las metástasis cutáneas se presentan a edades avanzadas, predominan las de origen hematológico así como las originarias de mama y con frecuencia constituyen el primer signo para la identificación de una neoplasia oculta. Es relevante el antecedente familiar de neoplasia en los pacientes.

OBJECTIVES: To determine the clinical and epidemiology characteristics of cutaneous metastases at Hospital Nacional EsSalud Edgardo Rebagliati Martins during 1996-2006. MATERIALS AND METHODS: Descriptive study of cases series. The study population was constituted by patients with diagnoses of cutaneous metastases attended in the Hospital Edgardo Rebagliati Martins Essalud between 1996 and 2006; sampling was not performed because of population was small and accessible. Patients were selected in accordance with inclusion and exclusion criteria. Clinical past histories of patients were revised obtaining the next clinical, epidemiology and histopathology characteristics. Data obtained was registered in an instrument of data recollection and became part of a database. RESULTS: A total of 51 cutaneous metastases cases were diagnosed. The mean age of patientswas 65.0 ± 15.4 years, 58.8% corresponded female and the remaining 41.2% were male. The higher frequency was in patients between 70-79 years (29.4%), 31.4 % had previous diagnoses of cancer and 23.5% had family history of cancer (mainly father and brother). Cutaneous metastases were diagnosed before primary malignant neoplasea in 67% of patients. Metastases originated in hematological malignancies in 51.0% of cases and solid organ tumors in the remaining 49.0%. Solid organ tumors that most often gave rise to cutaneous metastases were breast, kidney and bladder. The patients attended mainly consulted for nodule like lesions (31.4%) and tumor (9.8%). Metastases were located predominantly in men in the posterior thorax (19.0%) and legs (14.3%), while in the anterior thorax (46.7%) and scalp (23.3%) in women. CONCLUSIONS: In the Hospital Nacional Edgardo Rebagliati, cutaneous metastases occur in later life, predominantly hematologic origin and those originating in breast and are often the first sign for the identification of occult neoplasy. It is relevant the family history of neoplasia in patients.

Lupus eritematoso sistémico seronegativo / Seronegative systemic lupus erythematosus

El lupus eritematoso sistémico es una enfermedad inflamatoria multisistémica de etiología multifactorial. El 90% de los casos se registra en mujeres, por lo regular en edad fértil, aunque también puede afectar niños, varones y ancianos. Es más frecuente en personas de raza negra. Las manifestaciones clínicas, curso y pronóstico varían y como norma los anticuerpos antinucleares se encuentran positivos en el 99,5% de los casos activos. El 0,5% no lo son, denominándose seronegativos. La técnica ideal y estandarizada para su detección es la inmunofluorescencia usando como sustrato células Hep-2. Una dilución 1:160 es diagnóstica de esta enfermedad del colágeno. No existe cura y el objetivo del tratamiento es el control de los síntomas. Los medicamentos más utilizados son corticoides, antipalúdicos e inmunosupresores.

Systemic lupus erithematosus (SLE) is a systemic inflammatory disease of multifactor etiology. Ninety percent (90%) of cases occur in women during their reproductive years but it can also affect children, males and old age people. It is more common in black subjects. Clinical manifestations, course and prognosis vary and positive antinuclear antibodies is a standard in 99.5% of all active disease cases. Only 0,5% are not positive and are known as seronegative cases. Immunofluorecent assay on Hep-2 cell substrate is the ideal and standard detection technique. A titer of 1:160 is considered diagnostic of this connective tissue disease. There is no permanent cure for SLE. The goal of treatment is to relieve symptoms. The most commonly used drugs are corticosteroids, antimalarial and immunosupressive medications.

Delleman Oorthuys syndrome: ‘Oculocerebrocutaneous syndrome’.

Delleman Oorthuys syndrome (oculocerebrocutaneous syndrome) is a rare, congenital sporadic disorder affecting the skin and central nervous system. We present the case of a one-month-old male who presented with an orbital cyst in the left eye since birth along with other manifestations of this syndrome. The manifestations of this syndrome resemble other developmental disorders like Goldenhar and Goltz syndrome. Conservative management of the orbital cyst in these cases have been described. The need to diagnose this rare congenital anomaly with cerebral malformations as a separate entity is crucial in the management of these children.

Factores relacionados con la aparición de estrías atróficas en mujeres adolescentes de dos establecimientos educativos privados de la ciudad de Medellín, 1997-1998 / Related factors with atrophic stretch marks in adolescent female students from two private educational establishments from the city of Medellin, 1997-1999

Objetivos: determinar la prevalencia de estrías atróficas e identificar la frecuencia de lo factores de riesgo relacionados con su aparición en mujeres adolescentes. Métodos: se realizó un estudio descriptivo en 210 estudiantes entre 12 y 18 años de dos establecimientos educativos privados de la ciudad de Medellín, Colombia. A cada estudiante se le aplicó una encuesta autodirigida y se le realizó un examen físico para observar la presencia de estrías. Resultados: el 75,2% de las adolescentes presentaron estrías, el 59,5% tenían entre 15 a 18 años. La localización más frecuente fueron los glúteos (78,3%). Se encontró asociación entre las estrías y factores como: obesidad (p=0,011), antecedentes familiares positivos (p=0,006), uso de hormonas no esteroideas (anticonceptivos) (p=0,003), consumo de productos dietéticos (p=0,025) y grasas (p= 0,026). No se encontró correlación con el fototipo, enfermedades, uso de esteroides, hábito de fumar y práctica de ejercicio. Conclusiones: las estrías atróficas son una entidad clínica de alta prevalencia en mujeres jóvenes, afectando múltiples zonas corporales con deterioro de la autoimagen. Ciertas conductas de alimentación y consumo de medicamentos, además de los antecedentes familiares, pueden estar implicados en el aumento de la frecuencia de esta enfermedad.

Objective: This study was designed to determine the prevalence of stretch marks in adolescent young woman and to identify the associated risk factors. Methods: It was performed a descriptive study on 210 students between 12 and 18 years old from two private schools in Medellín, Colombia. Each student answered a questionnaire and was examined. Results: 75.2% of the adolescents had stretch marks and 59.5% of them were between 15 and 18 years old. Most frequent affected body site was the buttock (78.3%). It was found a greater prevalence between the presence of stretch marks and factors like: obesity (p=0.011), family members with stretch marks (p= 0.006), use of nonsteroidal hormones (p=0.003), diet products (p=0.025), and fats (p=0.0265). It was not found association with phototype, diseases, glucocorticoids, smoking or exercise. Conclusions: The stretch marks are very frequent in adolescent female, they are a source of esthetic discomfort and have great psychological impact on those who have them. Eating habits, medications intake, personal and family histories can influence the appearance of stretch marks.

Factores de riesgo asociados a estrías atróficas en mujeres adolescentes de un colegio privado, Medellín, 2003 / Risk factors associated with strechmarks in teenage girls of a private school, Medellin, 2003

Se realizó un estudio de casos y controles, en 289 estudiantes entre 12 y 18 años de un colegio privado de la ciudad de Medellín, para determinar la posible asociación entre la aparición de estrías atróficas con algunos factores de riesgo. A cada estudiante se le realizó una entrevista y se le practicó examen físico para determinar la presencia de estrías. Se encontró una asociación estadísticamente significativa con índice de masa corporal mayor de 25kg/m2 (p=0,0007) y con el consumo de productos dietéticos (p=0,0011). La práctica de ejercicio se encontró como factor protector con un OR de 0,55 (IC 95 %; 0,33-0,91). No se encontró asociación con el consumo de grasas, anticonceptivos orales, licor, cigarrillo, medicamentos, antecedentes familiares de estrías, antecedentes personales patológicos, talla, edad de aparición de las estrías y menarca. No se obtuvo información suficiente para evaluar asociación del consumo de esteroides por vía oral y aparición de estrías.

A case-control study, in 289 students between ages of 12 and 18 years who studied in a private school of the city of Medellín, was designed to determine the association between the appearance of atrophic striae and certain life styles, family and personal history and other variables. Each student was interviewed and a physical evaluation was done to determine the presence of striae. An association statistically significant was found between a body mass index greater than 25 kg/mt2 (p=0.0007) and the intake of diet products (p=0.0011) with the appearance of striae. The regular frequency of exercise was found to be a protective factor with an OR of 0.55 and a CI (0.33-0.91). There was no association between the intake of fat, birth control pills, alcohol, cigarettes and drugs, family history of striae, personal history of disease, age of appearance of striae, first menses and height for age. There was not enough information to determine the association between the intake of steroids and the appearance of striae.

Prenatal Diagnosis of Restrictive Dermopathy.

We report three cases of Restrictive dermopathy from unrelated families. All were small for gestational age with small eyes and open mouth. Taut, stretched skin caused restriction of movements. Clavicular hypoplasia was a consistent radiological feature. Molecular diagnosis in the parents facilitated prenatal diagnosis from chorionic villous sample (CVS) in the subsequent pregnancy.

Diferentes espectros en las malformaciones vasculares congénitas / Different spectra in congenital vascular malformations

Las malformaciones vasculares son anomalías de los vasos debidas a una alteración del desarrollo embriológico. A diferencia de los hemangiomas, están siempre presentes en el nacimiento y aumentan de tamaño proporcionalmente al crecimiento del niño. No involucionan y, por lo tanto, siempre van a estar presentes a lo largo de la vida del paciente. Desde la clasificación de la ISSVA (International Society for the Study of Vascular Anomalies), las malformaciones vasculares se dividen en función del vaso afectado en capilares, venosas arteriovenosas, linfáticas y complejas o combinadas. Presentamos tres casos clínicos caracterizados los dos primeros por predominar el componente vascular, venoso y linfático y el tercero de tipo venolinfático y glómico.

Síndrome de ectrodactilia-displasia ectodérmica-labio/paladar hendido / Ectrodactyly ectodermal dysplasia cletfing syndrome

Se presenta el caso de femenina de 26 meses de edad, producto de primer parto, hija de padres sanos no consanguíneos, quien desde el nacimiento presentó displasia ectodérmica; ausencia de varios dedos(ectrodactilia) de forma simétrica en miembros superiores e inferiores; labio y paladar hendido; cabello escaso, fino y ralo; piel seca (xerosis); disminución de la sudoración (hipohidrosis) y erupción retardada de las piezas dentales. No había alteraciones en otros órganos, ni otros familiares afectados. Esta paciente ilustra un caso esporádico del Síndrome de ectrodactilia-displasia ectodérmica- labio/paladar hendido con los signos cardinales característicos del síndrome: 1.Ectrodactilia 2. Displasia ectodérmica y 3. Labio/paladar.

Reação farmacodérmica decorrente do uso do levamisol: relato de caso / Pharmacodermic adverse reaction due to levamisole: a case report

Relata-se a ocorrência de um caso de farmacodérmica pelo levamisol e discute-se sobre a manifestação clínica e o estabelecimento do diagnóstico dessa reação cutânea adversa. O animal desenvolveu lesões exsudativas na face, com resolução espontânea após a suspensão do fármaco.

Speech-language and hearing findings in the cardio-facial-cutaneous syndrome

Tema: sindrome Cárdio-fácio-cutâneo. Objetivo: descrever os achados clínicos de uma paciente com a síndrome Cárdio-fácio-cutâneo e caracterizar sua comunicação. Método: realizar avaliação genética, fonoaudiológica, otorrinolaringológica, e psicológica. Resultados: foram observadas as alterações cardíacas , cutâneas e craniofaciais, deficiência cognitiva e alteração significativa da linguagem com ausência de oralidade. Conclusão: ressalta-se a importancia da avaliação destes pacientes, para diagnóstico e intervenção, com o intuito de reflexões que direcionem o trabalho terapêutico fonoaudiológico no favorecimento de condutas comunicativas, mediante alterações severas da comunicação.

Manifestaciones dermatologicas de las inmunodeficiencias primarias / Dermatologic alterations of primary inmunodeficiency

Las inmunodeficiencias primarias son defectos genéticos que comprometen la función de alguna de las proteínas involucradas en la respuesta inmunológica; por ello, los pacientes presentan una frecuencia anormal de infecciones severas recurrentes, enfermedades autoinmunes, alergias y neoplasias. Uno de los órganos más comprometidos es la piel, y se ha observado que los diferentes tipos de deficiencia están asociadas con grupos específicos de manifestaciones dermatológicas. La caracterización oportuna de las alteraciones cutáneas en individuos con sospecha de inmunodeficiencia, es útil a la hora de hacer el diagnóstico fenotípico de la entidad, y en algunos casos, como la enfermedad de injerto contra hospedero en un lactante, sirve para detectar una inmunodeficiencia primaria en ausencia de otras manifestaciones físicas