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.

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.

Congenital langerhans cell histiocytosis with skin and lung involvement: Spontaneous regression.

Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare type of Langerhans Cell Histiocytosis, presenting at birth or during the neonatal period with eruption of multiple, discrete red-brown papules or nodules that undergo spontaneous regression. Systemic signs are generally absent. We describe a 4-month-old infant presenting with reddish brown nodular cutaneous lesions since birth with a past history suggestive of pulmonary involvement. Skin biopsy showed a dermal infiltrate of pleomorphic histiocytes; which were CD1a and S-100 positive, consistent with the diagnosis of CSHLCH. Both pulmonary and cutaneous lesions showed spontaneous resolution.

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.

Congenital self-healing Langerhans cell histiocytosis with pulmonary involvement: spontaneous regression.

Congenital self-healing Langerhans cell histiocytosis (CSHLCH) is a rare condition which may present at birth or during the neonatal period. It is usually characterized by eruption of multiple, discrete and red-brown papules and nodules which may increase in size and number during the first few weeks of life with spontaneous regression. Systemic signs are usually absent except for occasional mild hepatomegaly. The authors report a case of CSHLCH associated with multiple lung cysts with spontaneous regression. A healthy full term male infant presented at birth with numerous diffuse discrete dark-red papules sized 0.2-1.0 cm scattered on the eyelids, temporal areas of the scalp, neck, palms and soles. Histologic findings were mixed inflammatory infiltration of numerous histiocytes. Immunochemistry findings were S-100 and CDla positive consistent with CSHLCH. Hepatomegaly and multiple lung cysts were detected at 1 month old. Since he was healthy, no medication was given except for close monitoring. At 2 months of age, hepatomegaly was resolved but the liver had sclerosing change. Skin lesions regressed completely at the age of 4 months. Lung cysts were markedly improved at 7 months old and completely resolved at 1 year old. Spontaneous regression in CSHLCH with lung involvement has never been reported in Thailand.

Congenital self-healing reticulohistiocytosis: report of a case of the solitary type and review of the literature

A 2-month-old female infant presented with a single hemorrhagic crusted papule on the chin present since birth. No visceral involvement could be demonstrated. The lesion involuted spontaneously with scarring in 3 months. Mononuclear cells in the cutaneous infiltrate were Langerhans cells with typical Birbeck granules which positively stained with S-100 protein. This case is the solitary type of congenital self-healing reticulohistiocytosis.