RESUMO
La histiocitosis eruptiva generalizada, conjuntamente con el xantogranuloma juvenil, constituyen desórdenes histiocíticos de origen dendrítico (también denominados histiocitosis no Langerhans), que comparten características clínico-patológicas e inmunohistoquímicas. Presentamos a una paciente de 3 años de edad con lesiones en la piel clínicamente compatibles con histiocitosis eruptiva generalizada y confirmadas mediante histología e inmunohistoquímica. Luego presentó compromiso en el sistema nervioso central, por lo que fue intervenida quirúrgicamente. En la histopatología de esta lesión, se encontraron células de Touton, compatibles con el diagnóstico de xantogranuloma juvenil. Este caso clínico demuestra la necesidad de considerar estas enfermedades como espectro de una misma entidad.
Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-old female patient with skin lesions that were clinically compatible with generalized eruptive histiocytosis, confirmed by histopathological and immunohistochemical studies. During her development the disorder compromised the central nervous system, and surgical intervention of one symptomatic lesion was needed. The histopathological exam of the central nervous system lesion showed Touton cells, compatible with a diagnosis of juvenile xanthogranuloma. This case demonstrates the need to consider these diseases as a spectrum of the same entity.
Assuntos
Humanos , Feminino , Pré-Escolar , Histiocitose/patologia , Xantogranuloma Juvenil/patologia , Histiocitose/complicações , Xantogranuloma Juvenil/complicaçõesRESUMO
Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-old female patient with skin lesions that were clinically compatible with generalized eruptive histiocytosis, confirmed by histopathological and immunohistochemical studies. During her development the disorder compromised the central nervous system, and surgical intervention of one symptomatic lesion was needed. The histopathological exam of the central nervous system lesion showed Touton cells, compatible with a diagnosis of juvenile xanthogranuloma. This case demonstrates the need to consider these diseases as a spectrum of the same entity.
La histiocitosis eruptiva generalizada, conjuntamente con el xantogranuloma juvenil, constituyen desórdenes histiocíticos de origen dendrítico (también denominados histiocitosis no Langerhans), que comparten características clínico-patológicas e inmunohistoquímicas. Presentamos a una paciente de 3 años de edad con lesiones en la piel clínicamente compatibles con histiocitosis eruptiva generalizada y confirmadas mediante histología e inmunohistoquímica. Luego presentó compromiso en el sistema nervioso central, por lo que fue intervenida quirúrgicamente. En la histopatología de esta lesión, se encontraron células de Touton, compatibles con el diagnóstico de xantogranuloma juvenil. Este caso clínico demuestra la necesidad de considerar estas enfermedades como espectro de una misma entidad.
Assuntos
Xantogranuloma Juvenil/patologia , Pré-Escolar , Feminino , Histiocitose/complicações , Histiocitose/patologia , Humanos , Xantogranuloma Juvenil/complicaçõesRESUMO
El nevus de Becker es un nevus organoide caracterizado por la aparición de uno o más parches hiperpigmentados, de bordes irregulares, que se localizan, con un patrón en damero, preponderantemente en la parte superior del tórax y la región escapular o proximal de las extremidades superiores (aunque pueden afectar cualquier parte del cuerpo). La asociación de este nevus con anomalías sistémicas, como hipoplasia mamaria unilateral y anomalías musculares, esqueléticas y/o cutáneas, se ha denominado síndrome del nevus de Becker. Presentamos 4 casos de niños con nevus de Becker y otras anomalías asociadas.
Becker´s nevus is an organoid nevus that manifests as one ore more hyperpigmented patches, with irregular margins, arranged in a checkerboard pattern, more often located in the upper half of the thorax, shoulder or proximal upper extremities, but it can be seen in any part of the body. The association of this nevus with unilateral breast hypoplasia, muscle, skeletal and/or skin anomalies has been named Becker´s nevus syndrome. We report 4 cases of children with Becker´s nevus syndrome and other associated anomalies.
Assuntos
Humanos , Masculino , Adolescente , Feminino , Criança , Hamartoma/patologia , Mama/anormalidades , Neoplasias Cutâneas/patologia , Nevo Pigmentado/patologiaRESUMO
A pronounced linear eruption with ulcerations and calcium extrusion present in a boy with a mild generalized rash clinically consistent with juvenile dermatomyositis or overlap syndrome is reported. Loss of heterozygosity (LOH) is a postzygotic mechanism by which a heterozygous somatic cell may become homozygous or hemizygous at a given gene locus. Such a mechanism can be suspected when a pronounced segmental manifestation of an acquired skin condition with a polygenic background is found to be superimposed on more or less symmetrically distributed nonsegmental lesions of the same disorder. Alternatively, such a segmental manifestation may reflect heterozygosity for a postzygotic mutation involving an additional gene locus. The severe linear lesions in our patient showed a Blaschko-linear arrangement and were superimposed on mild nonsegmental lesions of either amyopathic dermatomyositis or overlap syndrome. Either LOH or a postzygotic mutation at an additional gene locus may explain the pronounced linear involvement.
Assuntos
Calcinose/patologia , Dermatomiosite/patologia , Predisposição Genética para Doença , Dermatopatias Genéticas/patologia , Biópsia por Agulha , Calcinose/tratamento farmacológico , Calcinose/genética , Criança , Colchicina/uso terapêutico , Dermatomiosite/tratamento farmacológico , Dermatomiosite/genética , Progressão da Doença , Quimioterapia Combinada , Seguimentos , Humanos , Hidroxicloroquina/uso terapêutico , Imuno-Histoquímica , Masculino , Medição de Risco , Índice de Gravidade de Doença , Dermatopatias Genéticas/tratamento farmacológico , Resultado do TratamentoRESUMO
An 8-year-old mentally retarded boy had paired segmental areas of hyper- and hypopigmentation on the left side of his body in association with cutis marmorata telangiectatica congenita (CMTC) involving the trunk and the limbs, with the exception of parts of his right arm. At the age of 4 years, an aneurysmatic nodular lesion developed in the angle of his right elbow, and subsequently two similar lesions emerged on his forehead and scalp. Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted. The coexistence of paired achromic and melanotic macules in the form of "cutis tricolor" with CMTC can be categorized as an unusual example of phacomatosis pigmentovascularis (PPV). This combination differs from all other types of PPV so far known, which is why we propose the new term "phacomatosis achromico-melano-marmorata". Future clinical research may show whether analogous "simple" twin-spot phenotypes in the form of "phacomatosis melanomarmorata" or "phacomatosis achromicomarmorata" do likewise exist.
Assuntos
Hiperpigmentação , Hipopigmentação , Deficiência Intelectual , Síndromes Neurocutâneas/diagnóstico , Criança , Humanos , Masculino , SíndromeRESUMO
This is a follow-up report on a boy with phacomatosis pigmentokeratotica. At the age of 10 years he had, in addition to a sebaceous nevus and a speckled lentiginous nevus, multiple lesions of a collagen nevus localized on the chin and in the lumbar area. On the left shoulder, a small telangiectatic spot was present within the area of the speckled lentiginous nevus. Moreover, hemiatrophy of the left-hand side of the body and hyperhidrosis of the left lumbar area were noted. At the age of 16, the lesions of his collagen nevus had considerably enlarged and showed an arrangement along Blaschko lines. Additional pinhead-sized vascular lesions were noted, with preponderance within the area of the speckled lentiginous nevus in the left scapular region and on his left leg. Moreover, the boy had developed severe arterial hypertension since the age of 13. Angiographic examination showed an aortic stenosis that reached from the aortic arch down to the origin of the renal arteries, necessitating a surgical intervention. From this follow-up report we conclude that phacomatosis pigmentokeratotica may be associated with other cutaneous abnormalities such as linear connective tissue nevus of the collagen type and multiple pinhead-sized angioma-like lesions superimposed on the speckled lentiginous nevus. The associated defects of the large vessels may belong to the component of Schimmelpenning syndrome representing one "half" of phacomatosis pigmentokeratotica, rather than being part of the speckled lentiginous syndrome that forms the other "half" of this twin-spot phenotype.
Assuntos
Estenose da Valva Aórtica/diagnóstico por imagem , Melanose/diagnóstico , Síndromes Neurocutâneas/diagnóstico , Malformações Vasculares/diagnóstico por imagem , Adolescente , Angiografia , Estenose da Valva Aórtica/fisiopatologia , Progressão da Doença , Seguimentos , Humanos , Masculino , Melanócitos/patologia , Melanose/patologia , Síndromes Neurocutâneas/patologia , Índice de Gravidade de Doença , Malformações Vasculares/fisiopatologiaRESUMO
We followed over 10 years three girls with focal dermal hypoplasia syndrome. The histopathological changes demonstrated at the optical level an hypoplastic dermis with thin and scarce collagen bundles and a marked diminution of elastic fibers. Mature adipose tissue was found scattered within the papillary and reticular dermis. No alterations in the basal membrane were observed by immunocytochemical or ultrastructural techniques. Ultrastructurally, in the skin-affected areas, loosely arranged collagen bundles composed of few fibrils were seen scattered in the extracellular matrix. Scarce elastic fibers of normal morphology were also observed. Fibroblasts were smaller, oval-shaped, and diminished in number with a poorly developed cytoplasm. In these fibroblasts, the most conspicuous feature was a remarkable and irregular thickening of the nuclear fibrous lamina. Taking into account that a common link between all laminopaties may be a failure of stem cells to regenerate mesenchymal tissue, this failure would induce the dermal hypoplasia observed in our patients presenting Goltz syndrome.
Assuntos
Tecido Conjuntivo/ultraestrutura , Hipoplasia Dérmica Focal/ultraestrutura , Adipócitos/metabolismo , Adipócitos/ultraestrutura , Adolescente , Biomarcadores/metabolismo , Criança , Colágeno/metabolismo , Colágeno/ultraestrutura , Tecido Conjuntivo/metabolismo , Tecido Elástico/metabolismo , Tecido Elástico/ultraestrutura , Matriz Extracelular/metabolismo , Matriz Extracelular/ultraestrutura , Feminino , Fibroblastos/metabolismo , Fibroblastos/ultraestrutura , Hipoplasia Dérmica Focal/metabolismo , Humanos , Técnicas Imunoenzimáticas , Microscopia Eletrônica de Transmissão , Reação do Ácido Periódico de SchiffRESUMO
We report a family in which geroderma osteodysplastica affected two male siblings. They showed the characteristic features associated with this syndrome: a prematurely aged face with wrinkly, lax skin, more prominent on the acral regions, associated with joint laxity, osteoporosis, and skeletal abnormalities. The main histologic abnormalities were fragmented elastic fibers that were diminished in number. Although collagen fibers showed changes in their orientation, they were normal in structure and number. We consider the differential diagnosis with other syndromes associated with cutis laxa using clinical, radiologic, and histopathologic criteria.
Assuntos
Doenças Ósseas Metabólicas/genética , Doenças Ósseas Metabólicas/patologia , Cútis Laxa/genética , Cútis Laxa/patologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Linhagem , SíndromeRESUMO
Desmoplastic hairless hypopigmented nevus (DHHN) is the name Ruiz-Maldonado et al. gave to a new variant of giant congenital melanocytic nevus characterized clinically by a hard ligneous consistency, absence of hair and progressive loss of pigment. Histologically, dermal fibrosis consistent with desmoplasia is a predominant feature. We describe a 6-year-old boy with a hard hairless pigmented congenital nevus involving the lumbosacral area, buttocks, perineum and scrotum. During the first years of life, the nevus showed a progressive reduction in colour, size and consistency. These changes continued until the age of four when a well-demarcated tumour appeared, within the nevus, on the right buttock. Resection of this outgrowth was performed. Histologically, nevus cells of normal appearance between thick collagen bundles were present. Immunostaining revealed S100 +, Vim +, HMB45--results. The nevus has continued to involute to date. An immune response against the melanocytes of the nevus may explain this type of evolution.
Assuntos
Nevo Pigmentado/patologia , Neoplasias Cutâneas/patologia , Criança , Humanos , MasculinoRESUMO
Two siblings with familial cutaneous collagenoma syndrome had the essential clinical features of multiple skin-colored nodules on the trunk and upper arms. On light microscopy, histopathologic findings included excessive accumulation of dense, coarse collagen in the dermis. Elastic tissue stains demonstrated a proportionately diminished number of abnormal elastic fibers intermingled with the collagen bundles. A predominance of densely packed collagen bundles of normal morphology with a marked decrease in abnormal elastic tissue were the major ultrastructural features. The diagnosis was therefore confirmed to be connective tissue nevi of the collagen type. The differential diagnosis of connective tissue nevi disorders is delineated.
Assuntos
Doenças do Tecido Conjuntivo/patologia , Dermatopatias/patologia , Criança , Doenças do Tecido Conjuntivo/genética , Diagnóstico Diferencial , Hamartoma/patologia , Humanos , MasculinoRESUMO
The coexistence of linear porokeratosis (LP) and disseminated superficial actinic porokeratosis (DSAP) in a 3-year-old girl with a family history of DSAP is presented. Happle proposed loss of heterozygosity (LOH) to explain the origin of this unusual phenomenon. Homozygosity would explain why lesions in LP are far more pronounced than those of the associated heterozygous DSAP lesions. LOH would also explain the early age of presentation of the linear lesions, the family history of DSAP, and why LP cases are particularly prone to malignant transformation. This case is also important for molecular studies because of the presence of heterozygous and homozygous mutated cells in the same patient and the familial occurrence of the heterozygous form of the disease.
Assuntos
Predisposição Genética para Doença , Perda de Heterozigosidade , Poroceratose/diagnóstico , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Poroceratose/complicações , Poroceratose/genética , Poroceratose/patologiaRESUMO
Se presentan cuatro casos de cutis verticis gyrata (CVG), dos son individuos adultos, con cuadros correspondientes a formas primarias de la enfermedad, y dos pediátricos, que por su etiología se clasifican entre las formas secundarias. Se comentan las consideraciones clínicas y de laboratorio, así como las posibles implicaciones etiológicas y de pronóstico de cada caso
Assuntos
Humanos , Masculino , Adulto , Feminino , Criança , Couro Cabeludo , Dermatoses do Couro Cabeludo , Dermatopatias , Síndromes ParaneoplásicasRESUMO
Se presentan cuatro casos de cutis verticis gyrata (CVG), dos son individuos adultos, con cuadros correspondientes a formas primarias de la enfermedad, y dos pediátricos, que por su etiología se clasifican entre las formas secundarias. Se comentan las consideraciones clínicas y de laboratorio, así como las posibles implicaciones etiológicas y de pronóstico de cada caso (AU)
Assuntos
Humanos , Masculino , Adulto , Feminino , Criança , Couro Cabeludo , Dermatopatias , Dermatoses do Couro Cabeludo , Síndromes ParaneoplásicasRESUMO
Ichthyosis follicularis, congenital alopecia, and photophobia are typical features of a rare X-linked recessive disorder termed ichthyosis follicularis with atrichia and photophobia syndrome. A 3-year-old male with these findings and severe growth failure, mental retardation, generalized seizures, vascularizing keratitis, nail anomalies, inguinal hernia, and a normal chromosome constitution is presented. Two maternal male relatives were affected by the same condition. Magnetic resonance imaging revealed corpus callosum hypoplasia not described at present. Syndromes with alopecia, seizures, and mental retardation are analyzed on the basis of genetic and clinical results.
RESUMO
Niña de 10 años de edad, de raza indo-americana, con placas verrugosas orales de siete meses de evolución. El diagnóstico clínico de hiperplasia epitelial focal fue confirmado por microscopía electrónica. Se realiza la descripción de esta patología frecuente en comunidades indígenas de bajo nivel socioeconómico y su diagnóstico diferencial con otras patologías orales clínicamente similares
Assuntos
Humanos , Feminino , Hiperplasia Epitelial Focal/diagnóstico , Gelo-Seco/uso terapêutico , Hiperplasia Epitelial Focal/patologia , Hiperplasia Epitelial Focal/terapiaRESUMO
Niña de 10 años de edad, de raza indo-americana, con placas verrugosas orales de siete meses de evolución. El diagnóstico clínico de hiperplasia epitelial focal fue confirmado por microscopía electrónica. Se realiza la descripción de esta patología frecuente en comunidades indígenas de bajo nivel socioeconómico y su diagnóstico diferencial con otras patologías orales clínicamente similares (AU)
Assuntos
Humanos , Feminino , Hiperplasia Epitelial Focal/diagnóstico , Hiperplasia Epitelial Focal/patologia , Hiperplasia Epitelial Focal/terapia , Gelo-Seco/uso terapêuticoRESUMO
La pustulosis neonatal por Malassezia furfur es una erupción papulopustulosa no folicular de cara, cuero cabelludo y cuello que aparece en el primer mes de vida. Se presentan cuatro neonatos con lesiones clínicas de pustulosis por Malassezia furfur en los cuales se confirmó el diagnóstico por examen micológico directo del material obtenido de pústulas. Se realiza diagnóstico diferencial con otras pustulosis del recién nacido, particularmente con el acné neonatal. Se observó buena respuesta terapéutica al ketoconazol tópico en forma de crema al 2 por ciento, aplicada dos veces al día durante dos semanas
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Malassezia/efeitos dos fármacos , Tinha Versicolor/complicações , Cetoconazol/uso terapêutico , Malassezia/isolamento & purificação , Malassezia/patogenicidade , Tinha Versicolor/diagnóstico , Tinha Versicolor/tratamento farmacológicoRESUMO
La pustulosis neonatal por Malassezia furfur es una erupción papulopustulosa no folicular de cara, cuero cabelludo y cuello que aparece en el primer mes de vida. Se presentan cuatro neonatos con lesiones clínicas de pustulosis por Malassezia furfur en los cuales se confirmó el diagnóstico por examen micológico directo del material obtenido de pústulas. Se realiza diagnóstico diferencial con otras pustulosis del recién nacido, particularmente con el acné neonatal. Se observó buena respuesta terapéutica al ketoconazol tópico en forma de crema al 2 por ciento, aplicada dos veces al día durante dos semanas (AU)
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Tinha Versicolor/complicações , Malassezia/efeitos dos fármacos , Tinha Versicolor/diagnóstico , Tinha Versicolor/tratamento farmacológico , Cetoconazol/uso terapêutico , Malassezia/isolamento & purificação , Malassezia/patogenicidadeRESUMO
La paquidermodactilia (PDD) es una forma rara de fibromatosis superficial benigna de los dedos de la mano, que afecta a hombres jóvenes, caracterizada por engrosamiento fusiforme de tejidos blandos de las superficies dorsal y principalmente lateral de las articulaciones interfalángicas proximales de los dedos de las manos. El objetivo de este trabajo es presentar el estudio clínico e histopatológico de una niña con paquidermodactilia asociada a porfiria cutánea tarda (PCT). Según la bibliografía consultada, dicha asociación no ha sido previamente reportada