Presentación clínica de patologías no malignas que simulan leucemia cutis: a propósito de dos casos / Clinical presentation of non-malignant diseases mimicking leukemia cutis: A report of two cases

La infiltración cutánea por células leucémicas conocida como leucemia cutis es una presentación infrecuente de esta patología y constituye un desafío diagnóstico. Los diagnósticos como infecciones, otras patologías neoplásicas con afectación cutánea y los trastornos histiocíticos, entre otros, constituyen los principales diagnósticos diferenciales, ya que configuran un escenario pronóstico y terapéutico diferente. Se presentan dos pacientes que fueron diagnosticados inicialmente como leucemia cutis, cuyo diagnóstico final fue de patologías no malignas.

The infiltration of leukemia cells into the skin, known as leukemia cutis, is a rare presentation of this disease and accounts for a diagnostic challenge. The main differential diagnoses include infections, other neoplastic diseases with skin involvement and histiocytic disorders, among others, as they entail different prognostic and therapeutic approaches. Here we describe two patients who were initially diagnosed with leukemia cutis, whose final diagnosis was of non-malignant diseases.

Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia / Neurofibromatosis Type 1: Diagnostic Timelines in Children

Antecedentes y objetivos El diagnóstico de la neurofibromatosis 1 (NF1) plantea dificultades en niños sin antecedentes familiares durante la primera infancia. En este estudio pretendemos estimar la demora diagnóstica de los pacientes sin antecedentes familiares de NF1 y definir la repercusión de considerar las manchas café con leche y las efélides como un único criterio diagnóstico. Pacientes y métodos Estudio observacional descriptivo retrospectivo en el que se revisaron los hitos diagnósticos de la NF1 en las historias clínicas de los pacientes menores de 18 años atendidos en nuestro centro. Distribuimos a los pacientes en dos grupos en función de la existencia de antecedentes de NF1 entre sus progenitores, considerando las manchas café con leche y las efélides como un único criterio y aceptando el estudio genético como criterio de confirmación en casos de elevada sospecha. Resultados Se incluyeron en el estudio 108 menores con diagnóstico de NF1. La edad media de diagnóstico en nuestra serie fue de 3,94 años (desviación estándar:±3,8 años). En el grupo 1, sin antecedentes, la edad media de diagnóstico fue de 4 años y 8 meses, mientras que en el grupo 2, con antecedentes, fue de 12 meses, siendo la demora en el diagnóstico de 3 años y 8 meses entre ambos grupos. Conclusión Las lesiones cutáneas representan, en la mayoría de los casos, las primeras manifestaciones clínicas de la enfermedad. Consideramos necesaria la actualización de los criterios diagnósticos del NIH con el fin de facilitar el diagnóstico en los primeros años de vida (AU)

background and objectives The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. Patients and methods Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. Results We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. Conclusion Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children (AU)

[Translated article] Neurofibromatosis Type 1: Diagnostic Timelines in Children / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia

background and objectives The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. Patients and methods Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. Results We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. Conclusion Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children (AU)

Antecedentes y objetivos El diagnóstico de la neurofibromatosis 1 (NF1) plantea dificultades en niños sin antecedentes familiares durante la primera infancia. En este estudio pretendemos estimar la demora diagnóstica de los pacientes sin antecedentes familiares de NF1 y definir la repercusión de considerar las manchas café con leche y las efélides como un único criterio diagnóstico. Pacientes y métodos Estudio observacional descriptivo retrospectivo en el que se revisaron los hitos diagnósticos de la NF1 en las historias clínicas de los pacientes menores de 18 años atendidos en nuestro centro. Distribuimos a los pacientes en dos grupos en función de la existencia de antecedentes de NF1 entre sus progenitores, considerando las manchas café con leche y las efélides como un único criterio y aceptando el estudio genético como criterio de confirmación en casos de elevada sospecha. Resultados Se incluyeron en el estudio 108 menores con diagnóstico de NF1. La edad media de diagnóstico en nuestra serie fue de 3,94 años (desviación estándar:±3,8 años). En el grupo 1, sin antecedentes, la edad media de diagnóstico fue de 4 años y 8 meses, mientras que en el grupo 2, con antecedentes, fue de 12 meses, siendo la demora en el diagnóstico de 3 años y 8 meses entre ambos grupos. Conclusión Las lesiones cutáneas representan, en la mayoría de los casos, las primeras manifestaciones clínicas de la enfermedad. Consideramos necesaria la actualización de los criterios diagnósticos del NIH con el fin de facilitar el diagnóstico en los primeros años de vida (AU)

Neurofibromatosis Type 1: Diagnostic Timelines in Children. / Cronología del diagnóstico de la neurofibromatosis tipo 1 en la infancia.

BACKGROUND AND OBJECTIVES: The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion. PATIENTS AND METHODS: Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases. RESULTS: We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history. CONCLUSION: Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case–Control Study / Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles

Background The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods Case–control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4–99.96%] and a positive predictive value (PPV) of 98.80% [92.54–99.94%] were estimated for NA and a specificity of 99.27% [95.4–99.96%] and a PPV of 92.86% [64.17–99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). Conclusions NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated (AU)

Antecedentes El diagnóstico de la neurofibromatosis tipo 1 (NF1) se demora normalmente en niños sin antecedentes familiares. Nuestro objetivo fue definir la prevalencia y características de las manifestaciones cutáneas prevalentes en NF1, en comparación con la población general, que siguen siendo excluidas de los criterios diagnósticos para NF1. Pacientes y métodos Estudio de casos y controles, pareado por grupos de edad, en el que se incluyeron 108 pacientes diagnosticados de NF1 y 137 controles sanos. Resultados La prevalencia de nevus anemicus (NA) (p < 0,001) y xantogranuloma juvenil (XJ) (p < 0,001) fue significativamente superior en la población afectada de NF1, en comparación con el grupo control. Se estimaron una especificidad del 99,27% [Intervalo de confianza (IC): 95,4-99,96%] y un valor predictivo positivo (VPP) del 98,80% [92,54-99,94%] para NA, y una especificidad del 99,27% [95,4-99,96%] y VPP del 92,86% [64,17-99,63%] para XJ en el diagnóstico de NF1 en niños que presentan 6 o más manchas café con leche. También se evidenciaron diferencias estadísticamente significativas en la distribución por fototipos (p 0,025), y con relación al prurito generalizado sin ninguna otra causa (p <,001). Conclusiones Los NA y los XJ son hallazgos clínicos relevantes para el diagnóstico de NF1, especialmente durante los primeros años de vida. Consideramos que debería evaluarse su inclusión en los criterios diagnósticos de la enfermedad (AU)

Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles / Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study

Antecedentes El diagnóstico de la neurofibromatosis tipo 1 (NF1) se demora normalmente en niños sin antecedentes familiares. Nuestro objetivo fue definir la prevalencia y características de las manifestaciones cutáneas prevalentes en NF1, en comparación con la población general, que siguen siendo excluidas de los criterios diagnósticos para NF1. Pacientes y métodos Estudio de casos y controles, pareado por grupos de edad, en el que se incluyeron 108 pacientes diagnosticados de NF1 y 137 controles sanos. Resultados La prevalencia de nevus anemicus (NA) (p < 0,001) y xantogranuloma juvenil (XJ) (p < 0,001) fue significativamente superior en la población afectada de NF1, en comparación con el grupo control. Se estimaron una especificidad del 99,27% [Intervalo de confianza (IC): 95,4-99,96%] y un valor predictivo positivo (VPP) del 98,80% [92,54-99,94%] para NA, y una especificidad del 99,27% [95,4-99,96%] y VPP del 92,86% [64,17-99,63%] para XJ en el diagnóstico de NF1 en niños que presentan 6 o más manchas café con leche. También se evidenciaron diferencias estadísticamente significativas en la distribución por fototipos (p 0,025), y con relación al prurito generalizado sin ninguna otra causa (p <,001). Conclusiones Los NA y los XJ son hallazgos clínicos relevantes para el diagnóstico de NF1, especialmente durante los primeros años de vida. Consideramos que debería evaluarse su inclusión en los criterios diagnósticos de la enfermedad (AU)

Background The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. Patients and methods Case–control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. Results The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4–99.96%] and a positive predictive value (PPV) of 98.80% [92.54–99.94%] were estimated for NA and a specificity of 99.27% [95.4–99.96%] and a PPV of 92.86% [64.17–99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). Conclusions NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated (AU)

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study. / Hallazgos cutáneos no considerados criterios diagnósticos de la NF1. Estudio de casos y controles.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (P<.001) and juvenile xanthogranulomas (JXG) (P<.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% (confidence interval): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (P=.025) and in relation to generalized itching with no other cause (P<.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Cutaneous Manifestations not Considered Diagnostic Criteria for Neurofibromatosis Type 1. A Case-Control Study.

BACKGROUND: The diagnosis of Neurofibromatosis type 1 (NF1) is usually delayed in children without a family history. We aimed to define the prevalence and characteristics of prevalent skin manifestations in NF1 compared to the general population, which continue to be excluded from the diagnostic criteria for NF1. PATIENTS AND METHODS: Case-control study, matched by age groups, in which 108 patients with a diagnosis of NF1 and 137 healthy controls were included. RESULTS: The prevalence of nevus anemicus (NA) (p<0.001) and juvenile xanthogranulomas (JXG) (p<0.001) was significantly higher in the population affected by NF1 than in the control population. A specificity of 99.27% [confidence interval (CI): 95.4-99.96%] and a positive predictive value (PPV) of 98.80% [92.54-99.94%] were estimated for NA and a specificity of 99.27% [95.4-99.96%] and a PPV of 92.86% [64.17-99.63%] for JXG in the diagnosis of NF1 in children who present 6 or more Café-au-lait macules. Statistically significant differences were also evidenced in the distribution by phototypes (p 0.025) and in relation to generalized itching with no other cause (p<0.001). CONCLUSIONS: NA and JXG are relevant clinical findings for the diagnosis of NF1, especially during the first years of life. We consider that its inclusion among the diagnostic criteria of the disease should be evaluated.

Xantogranuloma juvenil del adulto con presentación única en el conducto auditivo externo, una entidad poco común y una localización infrecuente: reporte de caso / Juvenile xanthogranuloma in an adult with a single manifestation in the external auditory canal, an uncommon entity and unusual localization: Case report

La xantogranulomatosis juvenil es una patología infrecuente que se presenta predominantemente en la primera infancia, ya que los adultos pueden verse afectados con poca frecuencia. La manifestación cutánea se da en la mayoría de los casos como un nódulo rojo-amarillo indurado y solitario, que con frecuencia se presenta a nivel de cabeza y cuello, seguido del tronco, extremidades inferiores y superiores. Aunque infrecuentes, las manifestaciones extracutáneas pueden presentarse con principal compromiso oftalmológico (1). En el artículo se presenta el caso de un hombre de 42 años que consultó por la aparición de una lesión en el conducto auditivo externo derecho, con un aumento progresivo del tamaño asociado con otorrea serohemática intermitente e hipoacusia. El diagnóstico se realizó por medio de hallazgos clínicos, histopatológicos e inmunohistoquímicos. Se realizó escisión total de la lesión; posteriormente, el paciente presentó una evolución adecuada y mejoría de la sintomatología. Se presenta este caso por lo infrecuente de la entidad y por lo inusual de su localización.

Juvenile xanthogranulomatosis, an unusual pathology that occurs predominantly in early childhood, adults can be affected infrequently, the skin manifestation occurs in most cases, as a solitary, indurated red-yellow papule or nodule, with a highest frequency occurs at head and neck level, followed by the trunk and the lower and upper extremities. Extracutaneous manifestations are uncommon, however they can be present with principal ocular level involvement (1). We present the case of a 42-year-old man who consulted due to an appearance of a lesion in the right external auditory canal with a progressive increase in size associated with intermittent otorrhea and hearing loss. The diagnosis was made by clinical, histopathological and immunohistochemical findings. Excision of the entire lesion was performed, after which the patient presented adequate evolution and improvement of symptoms. This case is presented due to the infrequency of the entity and the unusual localization

Upper eyelid juvenile xanthogranuloma: a case report / Xantogranuloma juvenil em pálpebra superior: relato de caso

ABSTRACT Juvenile xanthogranuloma is a rare benign non-Langerhans cell histiocytosis. Clinical manifestation usually occurs up to the age of 2 years, with yellowish papules and variable clinical progression. Approximately 0.75% of patients had systemic involvement and 0.25%, ocular alterations. The purpose of this report is to describe a case of a preschool 2-year-old female patient, with nodules in the upper right eyelid, 0.5-cm wide, with well-defined edges, an uncertain date of onset, a stable growth for 6 months, with no inflammatory signs, pruritus, pain, bleeding, or other similar lesions in the body. No further changes were observed in the physical examination. Histopathological examination of the specimen showed a skin lesion with histiocytoid, spindle-shaped cells and xanthomized cells, inflammatory infiltrate and numerous Touton giant cells. The result was compatible with diagnosis of juvenile xanthogranuloma. Therefore, the importance of including juvenile xanthogranuloma in the differential diagnosis of eyelid lesions is emphasized, especially in children.

RESUMO O xantogranuloma juvenil é uma patologia histiocítica benigna rara. A manifestação clínica ocorre geralmente até os 2 anos de idade com pápulas amareladas e evolução clínica variável. Cerca de 0,75% dos pacientes apresentaram comprometimento sistêmico e 0,25%, comprometimento ocular. O objetivo deste relato é descrever o caso de uma pré-escolar de 2 anos do sexo feminino, com nodulação em pálpebra superior direita, 0,5cm de base e bordos bem definidos, data de início não estimada, mas crescimento estável há 6 meses, sem sinais flogísticos, prurido, dor, sangramentos ou outras lesões similares no corpo. Sem mais alterações ao exame físico. A análise histopatológica da peça evidenciou lesão cutânea com células histiocitoides, fusiformes e outras xantomizadas; infiltrado inflamatório de permeio e numerosas células gigantes do tipo Touton, resultado compatível com o diagnóstico de xantogranuloma juvenil. Assim, ressalta-se a importância da inclusão do xantogranuloma juvenil no diagnóstico diferencial de lesões palpebrais, especialmente em crianças.

Juvenile Xanthogranuloma: An Entity With a Wide Clinical Spectrum. / Xantogranuloma juvenil: una entidad con amplio espectro clínico.

Juvenile xanthogranulomas (JXGs) are rare, benign lesions that belong to the large group of non-Langerhans cell histiocytoses. JXG presents with 1 or more erythematous or yellowish nodules that are usually located on the head or neck. Most JXG lesions are congenital or appear during the first year of life. Extracutaneous involvement is rare, but the literature traditionally suggests investigating the possibility of ocular compromise. JXG is mainly a clinical diagnosis, but a skin biopsy may sometimes be needed for confirmation. JXGs on the skin are self-limiting and usually do not require treatment. This review describes the clinical and therapeutic aspects of JXG, emphasizing available evidence and the diagnosis of extracutaneous involvement.

Xantogranuloma múltiplo do adulto: relato de caso de tratamento exitoso com laser CO2 / Multiple adult xanthogranuloma: case report of successful treatment with CO2 Laser

O xantogranuloma múltiplo do adulto é uma apresentação mais rara e tardia do xantogranuloma juvenil, uma histiocitose de células não Langerhans. No adulto, normalmente, é uma lesão única, sendo a manifestação por múltiplas lesões infrequente e pouco descrita na literatura. Relatamos um caso de xantogranuloma múltiplo do adulto, com falha terapêutica à isotretinoína e ótima resposta ao tratamento com laser CO2 no modo cirúrgico

Multiple adult xanthogranuloma is a rare and late variant of Juvenile xanthogranuloma, a non-Langerhans cell histiocytosis. It usually corresponds to a single lesion in adults, and the manifestation of multiples lesions is uncommon. We report a case of multiple adult xanthogranuloma, with Isotretinoin therapy failure and optimal response to CO2 Laser treatment in the surgical mode.

Xantogranuloma juvenil gigante: acometimento palpebral difuso e simultâneo / Giant Juvenile Xanthogranuloma: diffuse and simultaneous palpebral involvement

O xantogranuloma juvenil (XGJ) é um tumor benigno e o mais comum do grupo das doenças histiocitárias proliferativas nãoLangerhans. Lesões; 2cm são consideradas XGJ gigantes, com relatos de lesões de até 18cm. Lesões oculopalpebrais podem necessitar de tratamento cirúrgico para controle de sintomas. Esse trabalho relata o caso de um menino de 8 anos que teve as 4 pálpebras acometidas por XGJ gigantes, além do terço médio. Ele foi submetido a 3 ressecções, sendo uma bastante profunda, necessitando enxerto de pele de espessura total diretamente sobre o músculo levantador da pálpebra superior. Posteriormente, 3 procedimentos de lipoenxertia foram realizados, atingindo resultado funcional e estético adequado, sem recorrência lesional.

Juvenile xanthogranuloma (JXG) is the most common benign tumor of the group of non-Langerhans histiocytic proliferative diseases. Lesions >2 cm are considered giant JXG, with reports of lesions of up to 18 cm. Oculopalpebral lesions may require surgical treatment to control symptoms. This study reports a case of an 8-year-old boy who had four eyelids and the middle third of the face affected by giant JXG. He underwent three resections, one of which was of great depth that required a full-thickness skin graft directly on the levator palpebrae superioris muscle. Subsequently, four fat-grafting procedures were performed and adequate functional and

Xantogranuloma juvenil múltiple, a propósito de un caso / Juvenile Multiple Xanthogranuloma, a case report

RESUMEN El xantogranuloma juvenil es la histiocitosis no Langenhans más frecuente en lactantes y niños menores de dos años, generalmente de carácter benigno y autolimitado. Clínicamente se presenta como neoformaciones únicas o múltiples papulonodulares, asintomáticas. Puede asociarse a neurofibromatosis tipo 1 y a leucemia mieloide crónica juvenil. Si bien el compromiso extracutáneo es infrecuente, siempre debe descartarse en lesiones múltiples. Presentamos el caso de un lactante de sexo masculino de 3 meses de edad con diagnóstico de xantogranuloma juvenil con lesiones múltiples y en progresión, por lo que se inicia tratamiento con corticoides tópicos de mediana potencia al que presenta buena respuesta.

ABSTRACT Juvenil xanthogranuloma is the most common non-Langenhans histiocytosis in children under two yeas old, usually benign and self-limited. Clinically presented as single or multiple neoformations like papules and nodules, asymptomatic. Can be associated with neurofibromatosis 1 and juvenile chronic myelogenous leukemia. Although the extracutaneous involvement is infrequent, it should always be discarded in multiple lesions. We present the case of a 3-month old infant with diagnosis of juvenile xanthogranuloma with multiple and increasing lesions, so topical corticoid treatment is initiated showing succesfull clinical response.

Juvenile xanthogranuloma: a case report / Xantogranuloma juvenil: um caso clínico

ABSTRACT Objective: To report a rate case of Juvenile xanthogranuloma in a newborn infant. Case description: We present the case of a 31-week preterm newborn with multiple skin lesions whose clinical, histological and immunohistochemical findings allowed the diagnosis of juvenile xanthogranuloma. Currently, the patient has nine months-old, and there is no aggravation of the skin lesions or evidence of extra-cutaneous involvement, particularly ophthalmic. Comments: Juvenile xanthogranuloma is a rare and benign condition, included in the vast group of non-Langerhans histiocytosis. It typically occurs in the pediatric age and may have a neonatal presentation. It affects predominantly the skin, in the form of papules or yellow and/or erythematous nodules and could be asymptomatic, multiple or solitary. Extra-cutaneous involvement, is more common in toddlers and when multiple lesions are present. The eye is the most affected site. We highlight this clinical case by its presentation in the neonatal period and in the form of multiple lesions, which bestows an increased risk of extra-cutaneous involvement, although this has not yet been verified.

RESUMO Objetivo: Descrever um caso raro de xantogranuloma juvenil em recém-nascido. Descrição do caso: Apresentamos o caso de um recém-nascido pré-termo de 31 semanas com múltiplas lesões cutâneas cuja clínica, histologia e imuno-histoquímica permitiram o diagnóstico de xantogranuloma juvenil. Atualmente, com nove meses de idade, não apresenta agravamento das lesões nem evidência de envolvimento extracutâneo, nomeadamente oftálmico. Comentários: O xantogranuloma juvenil é uma patologia rara e benigna, pertencente ao vasto grupo das histiocitoses não Langerhans. Surge tipicamente em idade pediátrica, podendo ter apresentação neonatal. O envolvimento é predominantemente cutâneo sob a forma de pápulas ou nódulos de coloração amarela e/ou eritematosos, assintomáticos, solitários ou múltiplos. O envolvimento extracutâneo é mais frequente em crianças com menos de dois anos e com múltiplas lesões, sendo o olho o local mais afetado. Destacamos este caso clínico pela apresentação no período neonatal e sob a forma de múltiplas lesões, o que lhe confere risco acrescido de envolvimento extracutâneo, sem que, no entanto, tal se tenha verificado.

Juvenile xantogranuloma with íris involvement / Xantogranuloma juvenil com acometimento iriano

Abstract Herein we report a case of juvenile xantogranuloma, an inflammatory disease more commonly diagnosed during childhood and is characterized by cutaneous and ocular manifestations. Iris is the main target, presenting as local or diffuse yellowish lesions. Iris involvement may precipitate not only glaucoma but also amblyopia. Treatment is based on corticosteroids therapy, either local or systemic aiming disease control.

Resumo É relatado um caso raro de xantogranuloma juvenil, doença de natureza inflamatória diagnosticada mais frequentemente na infância, com manifestações cutâneas e oculares. A íris é o principal sítio extracutâneo da doença, apresentando-se como lesão amarelada, difusa ou localizada. O acometimento iriano pode acarretar surgimento de glaucoma, além de ambliopia. O manejo clínico da lesão ocular no presente caso foi baseado no necessidade no uso contínuo de corticoide tópico e sistêmico para estabilização da doença.

Juvenile Xanthogranuloma: A Case Report and Review of the Literature / Xantogranuloma Juvenil: Informe de un Caso y Revisión de la Literatura

SUMMARY: Juvenile xanthogranuloma (JXG), is a benign histiocytic proliferation of uncertain histiogenesis which was first described by Adamson in 1905. It is a regressing disorder which occurs in children usually within first year of life. A child of ten months age reported to the Azeezia College of Dental Sciences and Research with a nodular swelling on the right side of the cheek and gave a history of swelling since the age of 5 months with gradual increase in size which was not associated with pain or itching. A provisional diagnosis of Haemangioma was made and excision biopsy of the lesion was done under general anaesthetia. Depending on the histopathologic and immunohistochemical findings a diagnosis of Juvenile Xanthogranuloma was made. The excisional biopsy site healed uneventfully with minimal scar formation. JXG is a benign fibrohistiocytic lesion and a type of granulomatous process. Pathogenesis of the lesion is unknown. It is generally considered to be a reactive lesion. Most common presentation is as solitary cutaneous lesion. Children are affected at a median age of 2 years with a male female ratio of 1.5:1. Classic histopathologic findings include Nodular to diffuse collection of histiocytes with finely vacuolated foamy cytoplasm and round to oval nuclei, Touton giant cells which are the cells with a central wreath of nuclei and peripheral rim of eosinophilic to vacuolated cytoplasm loaded with fat and Inflammatory infiltrate such as lymphocytes and eosinophils. JXG has to be clinically differentiated from Xanthoma, Molluscum contagiosum, Haemangioma and Neurofibroma. Mostly a self-limiting disease which spontaneously resolves. Conservative management is the treatment of choice. Excision may be done due to esthetic and diagnostic reasons. Recurrence is uncommon. JXG is a disease predominantly of early childhood, benign and self-healing.

RESUMEN: El xantogranuloma juvenil (JXG) es una proliferación histiocítica benigna de histiogénesis incierta que fue descrita por primera vez por Adamson en 1905. Es un trastorno regresivo que ocurre en los niños generalmente durante el primer año de vida. Un niño de diez meses de edad consultó al Colegio de Ciencias e Investigación Dental Azeezia por la presencia de hinchazón nodular en el lado derecho de la mejilla y un historial de hinchazón desde la edad de 5 meses con un aumento gradual en el tamaño que no estaba asociado con dolor o comezón. Se realizó un diagnóstico provisional de hemangioma y se realizó una biopsia de escisión de la lesión con GA. A partir de los hallazgos histopatológicos e inmunohistoquímicos, se realizó un diagnóstico de Xantogranuloma Juvenil. El sitio de la biopsia por escisión se curó sin incidentes con una formación de cicatriz mínima. JXG es una lesión fibrohistiocítica benigna y un tipo de proceso granulomatoso. La patogenia de la lesión es desconocida. Generalmente se considera que es una lesión reactiva. La presentación más común es como una lesión cutánea solitaria. Los niños se ven afectados a una edad media de 2 años con una proporción de hombres y mujeres de 1,5:1. Los hallazgos histopatológicos clásicos incluyen colección nodular a difusa de histiocitos con citoplasma espumoso finamente vacuolado y núcleos redondos a ovalados, células gigantes de Touton que son las células con una corona central de núcleos y margen periférico de citoplasma eosinófilo a vacuolado cargado con grasa e infiltrado inflamatorio como linfocitos y eosinófilos. JXG tiene que ser clínicamente diferenciado de Xanthoma, Molluscum contagiosum, Hemangioma y Neurofibroma. Es una enfermedad principalmente autolimitante que se resuelve espontáneamente. El tratamiento conservador es el tratamiento de elección. La escisión puede realizarse por razones estéticas y diagnósticas. La recurrencia es poco común. JXG es una enfermedad predominantemente de la primera infancia, benigna y autocurable.

Relevancia del xantogranuloma juvenil en pacientes con neurofibromatosis tipo 1: Revisión de un caso clínico / The relevance ofjuvenile xanthogranuloma in neurofibromatosis type i patients. Aclinical case

El xantogranuloma juvenil es una forma de histiocitosis de células no Langerhans que suele afectar a los niños y niñas dentro de los primeros años de vida. Su principal relevancia radica en la posible asociación a neurofibromatosis tipo 1, ya que su presentación conjunta conlleva un mayor riesgo de desarrollo de leucemia mielomonocítica crónica juvenil. Se presenta el caso de un lactante diagnosticado con neurofibromatosis tipo 1 en que se detectan lesiones múltiples compatibles con xantogranuloma juvenil.

Juvenile xanthogranuloma is a form of non-Langerhans cell histiocytosis which usually affects boys and girls in their early years. Its importance stemsfrom its possible association with neurofibromatosistype 1 asthe combined presentation brings a heightened risk of developing chronic juvenile myelomonocytic leukemia. We present the case of an infant diagnosed with neurofibromatosistype I who was found to have multiple lesions compatible with the diagnosis of juvenile xanthogranuloma.

Xantogranuloma juvenil solitario y múltiple / Solitary and Multiple Juvenile Xanthogranuloma

El Xantogranuloma Juvenil es un desorden relativamente raro, aunque es la forma más frecuente de la histiocitosis de células no Langerhans, principalmente en niños, afectando con frecuencia la cabeza y tronco. Está constituido típicamente por una pápula o nódulo único, de coloración eritematosa o amarillenta; las formas multilesionales son infrecuentes, asociándose ocasionalmente con compromiso visceral. Su pronóstico es usualmente bueno dada su naturaleza benigna y autolimitada, por lo que rara vez requieren tratamiento. Objetivo: presentar una serie de casos de xantogranuloma juvenil benigno así como frecuencia, manejo y pronóstico. Casos clínicos: se presentan 3 casos de varones con xantogranuloma juvenil atendidos en el Hospital Escuela Universitario, Tegucigalpa, Honduras; uno con localización en el pie, otro con lesiones múltiples y el tercero con presentación inicial a la edad de 15 años. En los tres se sospechó clínicamente el diagnóstico confirmándose mediante histopatología los casos 1 y 3; en el caso 2 los datos histopatológicos no fueron suficientes, por lo que fue necesario realizar estudios de inmunohistoquímica que confirmaron el diagnóstico de xantogranuloma. Conclusión: la presentación de los 3 casos es atípica, ya que su diagnóstico es usualmente clínico, en ocasiones es necesario el estudio histopatológico y con menor frecuencia estudios de inmunohistoquímica para lograr el diagnóstico definitivo...(AU)

Histiocitosis eruptiva generalizada-xantogranuloma juvenil: espectro clínico en un paciente pediátrico / Generalized eruptive histiocytosis-Juvenile xanthogranuloma: clinical spectrum in a pediatric patient

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.