Congenital Langerhans cell histiocytosis / Histiocitosis congénita de células de Langerhans

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.

Congenital Langerhans cell histiocytosis: a good prognosis disease?

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.

Congenital self-healing reticulohistiocytosis with spontaneous regression.

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.

Congenital self-healing reticulohistiocytosis with spontaneous regression

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.

Congenital self healing reticulohistiocytosis in a newborn (Hashimoto Pritzker).

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.

Retículo-histiocitose congênita autolimitada em recém-nascido (Hashimoto- Pritzker) / Congenital self healing reticulohistiocytosis in a newborn (Hashimoto Pritzker)

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.

Histiocitosis de células de Langerhans en menores de un año / Langerhans cell histiocytosis in children under one year

Introducción. La histiocitosis de células de Langerhans se debe a la proliferación clonal de histiocitos activados que invaden diversos tejidos. Se produce en todas las edades, desde el nacimiento hasta la adultez, con un pico de mayor incidencia entre 1 a 4 años. Objetivo. Describir las características de 15 pacientes pediátricos menores de 1 año con diagnóstico de histiocitosis de células de Langerhans, las manifestacionesclínicas y evolución de la enfermedad. Métodos. Estudio descriptivo retrospectivo, realizado en el Hospital Ramos Mejía y el Hospital Alemán, entre 1999 y 2007. Resultados. Se revisaron las historias de 15 pacientes, 6 niñas y 9 niños. Las lesiones en 8 casos estaban presentes al nacer y 7 aparecieron entre los 2 y 12 meses de edad. En las congénitas se observó como única manifestación clínica inicial el compromiso cutáneo. Uno de estos pacientes presentó evolución sistémica, con compromiso pulmonar, hepático y esplénico, actualmente en tratamiento. De los pacientes con lesiones posteriores al nacimiento, sólo 3 tenían compromiso cutáneo únicamente, el resto presentó compromiso sistémico. Uno de estos pacientes falleció durante el tratamiento. En la histopatología se observaron histiocitos en la dermis papilar con marcado epidermotropismo. La inmunomarcación con CD1a y S100 fue positiva. Conclusiones. La histiocitosis de células de Langerhans es una entidad con dos variantes: la forma congénita y la de inicio posterior al nacimiento, ambas con capacidad para producir compromiso sistémico.

Introduction. Langerhans cell histiocytosis is characterized by a clonal proliferation of activated Langerhans cells that infiltrate various organs of the body. Occurs at any age, from newborn until adulthood, with an incidence peak at 1-4 years. Objective. To describe the morphologyc characteristics of skin lesions and clinical course of 15 patients with Langerhans cell histiocytosis. Methods. A retrospective review of the medical records of patients with Langerhans cell histiocytosis from Ramos Mejia Hospital and Aleman Hospital, between 1999-2007. Results. Review of medical records from 15 patients, 6 females and 9 males. Skin lesions were congenital in 8 cases and appeared between 2-12 months of age in 7 cases. The patients with congenital presentation only had a cutaneous manifestation; one patient who developed a systemic compromise (lung, liver and spleen) is currently under treatment. Three patients with presentation after birth only had cutaneous lesions, the others had a sistemic disease. One of this patients died during treatment. Histopathology showed a histiocytic infiltrate in the papilary dermis with epidermotrophism; inmunomarking with S100 and CD1a was positive. Conclusion. Both clinical manifestation (congenital and after birth) represent different ends of a spectrum of the same condition, with the potencial to develop into disseminated Langerhans cell histiocytosis.

Histiocitosis de células de Langerhans en menores de un año / Langerhans cell histiocytosis in children under one year

Introducción. La histiocitosis de células de Langerhans se debe a la proliferación clonal de histiocitos activados que invaden diversos tejidos. Se produce en todas las edades, desde el nacimiento hasta la adultez, con un pico de mayor incidencia entre 1 a 4 años. Objetivo. Describir las características de 15 pacientes pediátricos menores de 1 año con diagnóstico de histiocitosis de células de Langerhans, las manifestacionesclínicas y evolución de la enfermedad. Métodos. Estudio descriptivo retrospectivo, realizado en el Hospital Ramos Mejía y el Hospital Alemán, entre 1999 y 2007. Resultados. Se revisaron las historias de 15 pacientes, 6 niñas y 9 niños. Las lesiones en 8 casos estaban presentes al nacer y 7 aparecieron entre los 2 y 12 meses de edad. En las congénitas se observó como única manifestación clínica inicial el compromiso cutáneo. Uno de estos pacientes presentó evolución sistémica, con compromiso pulmonar, hepático y esplénico, actualmente en tratamiento. De los pacientes con lesiones posteriores al nacimiento, sólo 3 tenían compromiso cutáneo únicamente, el resto presentó compromiso sistémico. Uno de estos pacientes falleció durante el tratamiento. En la histopatología se observaron histiocitos en la dermis papilar con marcado epidermotropismo. La inmunomarcación con CD1a y S100 fue positiva. Conclusiones. La histiocitosis de células de Langerhans es una entidad con dos variantes: la forma congénita y la de inicio posterior al nacimiento, ambas con capacidad para producir compromiso sistémico.(AU)

Introduction. Langerhans cell histiocytosis is characterized by a clonal proliferation of activated Langerhans cells that infiltrate various organs of the body. Occurs at any age, from newborn until adulthood, with an incidence peak at 1-4 years. Objective. To describe the morphologyc characteristics of skin lesions and clinical course of 15 patients with Langerhans cell histiocytosis. Methods. A retrospective review of the medical records of patients with Langerhans cell histiocytosis from Ramos Mejia Hospital and Aleman Hospital, between 1999-2007. Results. Review of medical records from 15 patients, 6 females and 9 males. Skin lesions were congenital in 8 cases and appeared between 2-12 months of age in 7 cases. The patients with congenital presentation only had a cutaneous manifestation; one patient who developed a systemic compromise (lung, liver and spleen) is currently under treatment. Three patients with presentation after birth only had cutaneous lesions, the others had a sistemic disease. One of this patients died during treatment. Histopathology showed a histiocytic infiltrate in the papilary dermis with epidermotrophism; inmunomarking with S100 and CD1a was positive. Conclusion. Both clinical manifestation (congenital and after birth) represent different ends of a spectrum of the same condition, with the potencial to develop into disseminated Langerhans cell histiocytosis.(AU)

Congenital self-healing histiocytosis (Hashimoto-Pritzker).

BACKGROUND: Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare condition, initially seen at birth or in the neonatal period, with generalized papules, vesicles, or nodules. Affected infants are otherwise well and the skin lesions tend to involute spontaneously within weeks to months. METHODS: Twelve patients with CSHLCH were seen from 1989 to 1998. RESULTS: Eight patients were girls and four were boys and all presented with lesions at birth which disappeared 1-3 months later. The lesions consisted of numerous brownish-red papules, papulovesicles, crusts, and nodules distributed on the face, limbs, palms, and soles. Two patients had oral mucosal lesions, and one had ulcerated lesions that evolved leaving hypochromic macules. Light microscopy showed a histiocytic infiltrate in the papillary dermis with epidermotrophism. Two cases were studied by electron microscopy: the Langerhans cells showed Birbeck granules and laminated corpus in their cytoplasm. Immunomarking with S100 protein was performed in all 12 patients and was positive. CD1 was also tested in four cases and was positive. CONCLUSIONS: Because CSHLCH is a rare condition, we emphasize that, although it is usually a benign, self-limited entity, careful evaluation for systemic disease must be performed and long-term follow-up must be carried out to detect evidence of relapse or progression of the disease; this is essential when treating these patients.