RESUMO
Langerhans cell histiocytosis is a rare pathology with different clinical manifestations in the neonatal period ranging from isolated bone lesions to systemic compromise. We report a case of Langerhans cell histiocytosis including a literature review focused on the clinical manifestations, diagnosis, and treatment. A one-month-old patient was brought to medical consultation with lymphadenopathy and skin lesions, which were initially managed as an infectious pathology. The disease continued its progression without improvement with the treatment until the patient died due to respiratory failure. The lymph node and skin biopsies revealed infiltration of atypical cells with positive immunohistochemistry for S100, CD1, and CD68 confirming Langerhans cell histiocytosis. This disorder represents a great challenge and, therefore, it is important to alert and sensitize medical teams about it for timely diagnosis and management.
La histiocitosis de células de Langerhans es una enfermedad poco frecuente, cuyas manifestaciones clínicas pueden aparecer en el periodo neonatal y varían desde lesiones óseas aisladas hasta un compromiso sistémico. Se describe un caso de histiocitosis de células de Langerhans y se revisa la literatura médica sobre las manifestaciones clínicas, el diagnóstico y el tratamiento. El paciente de un mes de nacido fue llevado a consulta por presentar adenopatías y lesiones en la piel que, inicialmente, fueron tratadas como reacción a una infección. La enfermedad continuó su progresión sin que hubiera mejoría con el tratamiento, hasta que el paciente falleció por falla respiratoria. La biopsia de ganglio linfático y la de piel revelaron infiltración de células atípicas, y la inmunohistoquímica resultó positiva para las proteínas S100, CD1 y CD68, con lo cual se confirmó el diagnóstico de histiocitosis de células de Langerhans. Esta alteración representa un gran desafío clínico, por lo que es importante alertar y sensibilizar al equipo médico para lograr un diagnóstico y un tratamiento más oportunos.
Assuntos
Histiocitose de Células de Langerhans/congênito , Dermatopatias/congênito , Biópsia , Infecções por Citomegalovirus/diagnóstico , Diagnóstico Diferencial , Progressão da Doença , Evolução Fatal , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/terapia , Humanos , Lactente , Linfadenopatia/congênito , Linfadenopatia/patologia , Masculino , Pele/patologia , Dermatopatias/complicações , Dermatopatias/patologia , Dermatopatias/terapia , Dermatopatias Virais/diagnósticoRESUMO
Langerhans cell histiocytosis is rare and more frequent in children. The skin is affected in 50% of the cases and is the only site in 10%. Its course varies from self-limited and localized forms to severe multisystemic forms. Congenital cases are usually exclusively cutaneous and self-limited, with spontaneous remission in months. This study presents a rare congenital case, initially restricted to the skin, with subsequent dissemination and fatal outcome. A male newborn presented congenital disseminated erythematous scaly lesions. The biopsy was conclusive for Langerhans cell histiocytosis. The patient evolved into the multisystemic form in weeks, when chemotherapy was started, according to the LCH-2009 protocol; however, the patient was refractory to treatment and died.
Assuntos
Eritema/congênito , Eritema/patologia , Histiocitose de Células de Langerhans/congênito , Histiocitose de Células de Langerhans/patologia , Biópsia , Progressão da Doença , Evolução Fatal , Humanos , Imuno-Histoquímica , Recém-Nascido , MasculinoRESUMO
Congenital self-healing reticulohistiocytosis is a rare, benign, self-limiting variant of Langerhans cell histiocytosis (LCH). LCH encompasses a group of idiopathic disorders characterized by the clonal proliferation of Langerhans cells. Congenital self-healing reticulohistiocytosis typically appears at birth or in the neonatal period as isolated cutaneous lesions, often appearing as multiple crusted papules with no systemic findings. Although clinical features seem aggressive, the lesions tend to involute spontaneously within weeks to a few months leaving residual hypo or hyperpigmented macules. Timely diagnosis with histology, immunocytochemistry, and electron microscopic studies will eliminate unnecessary therapeutic interventions. Although mostly self-resolving, it carries a variable clinical course in some patients with cases of extracutaneous involvement and/or recurrences. Hence, reassurance and long-term follow-up play key roles in the management of this disease.
Assuntos
Histiocitose de Células de Langerhans/congênito , Dermatopatias/congênito , Feminino , Histiocitose de Células de Langerhans/patologia , Humanos , Imuno-Histoquímica , Lactente , Remissão Espontânea , Dermatopatias/patologiaRESUMO
Abstract: Congenital self-healing reticulohistiocytosis is a rare, benign, self-limiting variant of Langerhans cell histiocytosis (LCH). LCH encompasses a group of idiopathic disorders characterized by the clonal proliferation of Langerhans cells. Congenital self-healing reticulohistiocytosis typically appears at birth or in the neonatal period as isolated cutaneous lesions, often appearing as multiple crusted papules with no systemic findings. Although clinical features seem aggressive, the lesions tend to involute spontaneously within weeks to a few months leaving residual hypo or hyperpigmented macules. Timely diagnosis with histology, immunocytochemistry, and electron microscopic studies will eliminate unnecessary therapeutic interventions. Although mostly self-resolving, it carries a variable clinical course in some patients with cases of extracutaneous involvement and/or recurrences. Hence, reassurance and long-term follow-up play key roles in the management of this disease.
Assuntos
Humanos , Feminino , Lactente , Dermatopatias/congênito , Histiocitose de Células de Langerhans/congênito , Remissão Espontânea , Dermatopatias/patologia , Imuno-Histoquímica , Histiocitose de Células de Langerhans/patologiaAssuntos
Humanos , Recém-Nascido , Dermatopatias/patologia , Dermatopatias/congênito , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/congênito , Dermatopatias/diagnóstico , Dermatopatias/terapia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/terapia , Remissão Espontânea , Diagnóstico Diferencial , PrognósticoAssuntos
Histiocitose de Células de Langerhans/congênito , Úlcera/congênito , Biópsia , Diagnóstico Diferencial , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/patologia , Humanos , Recém-Nascido , Masculino , Pele/patologia , Úlcera/diagnóstico , Úlcera/patologiaRESUMO
Congenital self-healing reticulohistiocytosis is the benign spectrum of Langerhans Cell Histiocytosis, characterized by cutaneous lesions at birth or in the neonatal period, absence of systemic manifestations and spontaneous resolution of clinical status. Despite the benign and often self-resolving course in most patients, studies show that in some cases there may be metastasis or recurrence of the disease, emphasizing that the clinical course is variable, requiring long-term follow-up. The monitoring of the patient for a long period is important to detect possible systemic involvement, as there is a report of recurrence involving the skin, mucosa, bone and pituitary gland.
Assuntos
Histiocitose de Células de Langerhans/congênito , Histiocitose de Células de Langerhans/diagnóstico , Antígenos CD1/análise , Humanos , Imuno-Histoquímica , Recém-Nascido , Masculino , Remissão Espontânea , Proteínas S100/análiseRESUMO
A retículo-histiocitose congênita autolimitada é o espectro benigno das histiocitoses de células de Langerhans, caracterizada pela presença de lesões cutâneas ao nascimento ou no período neonatal, ausência de manifestações sistêmicas e resolução espontânea do quadro clínico. Apesar do curso benigno e frequente autorresolução na maior parte dos pacientes, estudos mostram que, em alguns casos, pode haver disseminação ou recaída da doença, enfatizando que o curso clínico é variável, havendo necessidade de seguimento em longo prazo. O acompanhamento do paciente por longo período é importante para detectar possível envolvimento sistêmico, pois existe relato de recorrência, envolvendo pele, mucosa, ossos e glândula pituitária.
Congenital self-healing reticulohistiocytosis is the benign spectrum of Langerhans Cell Histiocytosis, characterized by cutaneous lesions at birth or in the neonatal period, absence of systemic manifestations and spontaneous resolution of clinical status. Despite the benign and often self-resolving course in most patients, studies show that in some cases there may be metastasis or recurrence of the disease, emphasizing that the clinical course is variable, requiring long-term follow-up. The monitoring of the patient for a long period is important to detect possible systemic involvement, as there is a report of recurrence involving the skin, mucosa, bone and pituitary gland.