ABSTRACT
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
Subject(s)
Humans , Xanthogranuloma, Juvenile , Histiocytosis , AdultABSTRACT
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.
Subject(s)
Humans , Female , Child, Preschool , Xanthogranuloma, Juvenile/diagnosis , Xanthogranuloma, Juvenile/pathology , Eyelid Diseases/pathology , Skin Diseases/pathology , Biopsy , Histiocytosis, Non-Langerhans-Cell/pathologyABSTRACT
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.
ABSTRACT
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.
Subject(s)
Humans , Male , Infant , Diagnosis, Differential , Biopsy/methods , Immunohistochemistry , Gestational Age , Xanthogranuloma, Juvenile/immunology , Xanthogranuloma, Juvenile/pathology , Patient Care/methodsABSTRACT
Infantile systemic juvenile xanthogranuloma (ISJXG) is an uncommon form of juvenile xanthogranuloma, a non-Langerhans cell proliferation of infancy and early childhood. In a small percentage of patients, the visceral involvementmost commonly to the central nervous system, liver, spleen, or lungsmay be associated with severe morbidity, and eventually fatal outcome. Here we describe the clinical and pathological findings of a 28-day-old girl with ISJXG who died with respiratory distress syndrome. She had few cutaneous lesions but massive liver and spleen infiltration; other affected organs were multiple lymph nodes, thoracic parasympathetic nodule, pleura, pancreas, and kidneys. Additional findings were mild pulmonary hypoplasia and bacteremia. Immunohistochemistry on fixed tissues is the standard for diagnosis. Immunophenotype cells express CD14, CD68, CD163, Factor XIIIa, Stabilin-1, and fascin; S100 was positive in less than 20% of the cases; CD1a and langerin were negative. No consistent cytogenetic or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death.
Subject(s)
Humans , Female , Infant, Newborn , Xanthogranuloma, Juvenile/complications , Liver Diseases/diagnosis , Respiratory Distress Syndrome, Newborn , Autopsy , Xanthogranuloma, Juvenile/congenital , Xanthogranuloma, Juvenile/pathology , Fatal OutcomeABSTRACT
Abstract: Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis. It manifests clinically as a red-yellow papule, usually showing spontaneous remission. The diagnosis is based on clinical and histological findings. We report the use of dermoscopy ("setting sun" pattern) as an adjuvant tool in the diagnosis of juvenile xanthogranuloma in a female patient presenting with a 2-month history of a pre-auricular papule.
Subject(s)
Humans , Female , Adult , Xanthogranuloma, Juvenile/diagnostic imaging , Dermoscopy/methods , Telangiectasis/pathology , Telangiectasis/diagnostic imaging , Xanthogranuloma, Juvenile/pathologyABSTRACT
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.
Subject(s)
Humans , Female , Child, Preschool , Histiocytosis/pathology , Xanthogranuloma, Juvenile/pathology , Histiocytosis/complications , Xanthogranuloma, Juvenile/complicationsABSTRACT
A 3-year-old boy presented with a 3-month history of brown-yellow papules scattered on the trunk.The first skin biopsy showed a dermal infiltrate of many mononuclear histiocytes,eosinophilic granulocytes and a small number of lymphocytes.Immunohistochemical examination of the lesions demonstrated positive reactions with anti-CD68,-S100 and-CD1a (partial) antibodies.After the biopsy,the skin lesions gradually turned dark and partially regressed leaving hyperpigmentation,but new lesions continuously appeared.Four months later,a second biopsy was performed,and showed a dermal infiltrate of histiocytes with eosinophilic granulocytes and a few multinucleated giant cells.Immunohistochemistry showed that the histiocytes stained positive for CD68,but negative for S100 and CD1a.Based on the above findings,the patient was diagnosed with juvenile xanthogranuloma.
ABSTRACT
Male patient, 28 years old, presented with an asymptomatic yellowish erythematous papule on his right thigh. Excisional biopsy was performed for histopathological examination of the lesion. Multinucleated cells (Touton giant cells) were observed. S100 immunohistochemistry was negative for CD1a and positive for CD4 and CD68. Based on clinical and histopathological findings associated with immunohistochemistry, we concluded that it was a case of adult-type xanthogranuloma. Because it was a solitary lesion without other clinical signs and symptoms, the medical conduct adopted was patient orientation.
Paciente do sexo masculino, 28 anos, com surgimento de pápula eritemato-amarelada na coxa direita, assintomática. Foi realizado biópsia excisional da lesão para exame histopatológico, tendo sido observado células gigantes multinucleares do tipo Touton e imunohistoquimica com CD1a e S100 negativos e CD4 e CD68 positivos. Pelos achados clinicohistopatológicos associados a imunohistoquimica concluímos ser um caso de xantogranuloma do tipo adulto. Por ter sido uma lesão solitária sem outros sinais e sintomas clínicos, a conduta adotada foi orientação quanto a doença.
Subject(s)
Adult , Female , Humans , Finger Phalanges/pathology , Lipoma/pathology , Soft Tissue Neoplasms/pathology , Biopsy, Fine-Needle , Diagnosis, Differential , Lipoma/surgeryABSTRACT
Relatamos um caso de histiocitose cefálica benigna em uma criança do sexo masculino, de um ano e três meses de idade que desenvolveu múltiplas pápulas na região malar bilateralmente, sem outros comemorativos associados. A histopatologia caracterizou-se pelo padrão derme papilar, com imuno-histoquímica negativa para S100 e CD1a, e positiva para CD68, ficando assim estabelecido o diagnóstico desta histiocitose não- Langerhans, baseado nos aspectos clínicos, histopatológicos e imuno-histoquímicos característicos.
The present paper reports a case of benign cephalic histiocytosis in a 15-month baby boy, who developed multiple papules bilaterally in the malar region with no other associated manifestations. Histopathology revealed a papillary dermal pattern, while immunohistochemistry was negative for S100 and CD1a and positive for CD68. Therefore, diagnosis was established as non-Langerhans cell histiocytosis, based on the clinical, histopathological and immunohistochemical features present.
Subject(s)
Humans , Infant , Male , Antigens, CD/immunology , Antigens, Differentiation, Myelomonocytic/immunology , Histiocytosis, Non-Langerhans-Cell/pathology , Diagnosis, Differential , Histiocytosis, Non-Langerhans-Cell/immunology , ImmunohistochemistryABSTRACT
As histiocitoses são doenças raras, resultantes de alterações na linhagem monocítica-histiocítica, com manifestações clínicas diversas. Entre as síndromes cutâneas de células não-Langerhans, o xantoma disseminado é a única entidade desse grupo classicamente associada ao diabetes insípido central (DIC). O caso clínico relatado refere-se a um paciente de 30 anos de idade que, dois anos após o diagnóstico de DIC, evoluiu com lesões cutâneas papulosas, eritêmato-acastanhadas, difusas, discretas e não confluentes. Os achados histológicos, imuno-histoquímicos e a microscopia eletrônica mostraram resultados compatíveis com a histiocitose de células não-Langerhans e sugestivos do xantogranuloma juvenil. A avaliação endócrino-metabólica não mostrou alterações durante o seguimento por 10 anos, com exceção do DIC. A ressonância magnética da hipófise demonstrou ausência do sinal hiperintenso (mancha brilhante) correspondente à neuro-hipófise. As radiografias e a cintilografia dos ossos não mostraram lesões osteolíticas. Este caso desperta a atenção para a importância do exame da pele nos casos de DIC e de sua associação com a histiocitose de células não-Langerhans de maneira mais ampla, e não restrita aos casos de xantoma disseminado.
The histiocytoses are rare diseases caused by alterations in the monocyte-histiocytic series with several clinical findings. Among the cutaneous syndromes of non-Langerhans cells, xanthoma disseminatum is the only disease of this group that has been classically associated to the central diabetes insipidus (CDI). The case reported describes a 30-year-old man that two years after presenting with CDI developed non confluent disseminated cutaneous brown papular lesions throughout the body. The histopathology, immunohistochemistry, and electronic microscopy were compatible with the diagnosis of non-Langerhans histiocytoses, suggesting the diagnosis of juvenile xanthogranuloma. The endocrine-metabolic evaluation did not show other alterations besides CDI in a 10-year follow up. The magnetic resonance of hypophysis showed absence of the pituitary hyperintense sign (bright spot). The radiologic and scinthigraphic evaluation of the bones did not show the presence of osteolytic lesions. This case prints out the importance of skin examination in cases of CDI and its association with cutaneous non-Langerhans histiocytoses in a broader spectrum, rather then restricted to the cases of xanthoma disseminatum.