Histiocitosis de células de Langerhans en un paciente con lesión perianal. Caso clínico / Langerhans cell histiocytosis in a patient with perianal lesion. A case report

La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.

Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.

Langerhans Cell Histiocytosis in Sphenoid Sinus: Uncommon Bone Involvement.

BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5 cases per million children ages 0-15 years old. The most common places for this tumor are the jaw, vertebra, pelvis, and the extremities. The disease with multisystem involvement can present a mortality rate of 20% and one-third of children have multisystem involvement. We present a case with unusual bone involvement of the anterior cranial base with a challenging diagnosis and a complex surgical approach. CASE REPORT We report the case of a 6-year-old boy who manifested the disease with daily holocranial headache, worse in the frontal region and refractory to analgesia for 10 days, strabismus homonymous, diplopia, and right palpebral ptosis. The tumor affected the sphenoid sinus, internal carotid artery, and sella turcica, and made contact with the pituitary gland. A joint surgery with Otorhinolaryngology and Neurosurgery was performed by nasal endoscopic access to the skull base by means of the right medial turbinectomy (for the access) and right sphenoid opening, septectomy and opening of the left sphenoid to work with 4 hands and, after resection of lesion, inside the sphenoid. CONCLUSIONS This patient had rare bone involvement from LCH and atypical clinical presentation next to the important and delicate structures of the anterior skull base, but had a satisfactory outcome.

Langerhans cell histiocytosis in a patient with perianal lesion. A case report. / Histiocitosis de células de Langerhans en un paciente con lesión perianal. Caso clínico.

Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.

La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.

Histiocitosis de Langerhans y panhipopituitarismo en adulto. Reporte de caso / Langerhans histiocytosis and panhypopituitarism in adults. Case report

La Histiocitosis de Células de Langerhans (HCL) es una enfermedad poco común caracterizada por la proliferación clonal de células dendríticas inmaduras que infiltran de forma local o difusa a distintos sistemas, y que afecta principalmente a niños. Presentamos el caso de un hombre de 38 años con historia de caída de múltiples piezas dentales de larga data, sin asociación a traumatismo, tabaquismo ni a mala higiene dental. Tomografía Computada (TC) de cráneo que mostró múltiples lesiones líticas mandibulares. El resultado de biopsia mandibular e inmunohistoquímica eran compatibles con el hallazgo de HCL. Durante su evolución, cursa con poliuria, polidipsia y nicturia, confirmando mediante estudio hormonal diabetes insípida y panhipopituitarismo. Resonancia Magnética (RM) cerebral muestra neoplasia hipotalámica con compromiso infundibular e imagen sugerente de granuloma hipofisiario. Se decide defocación maxilobucofacial, suplementación hormonal, junto con quimioterapia y radioterapia. El paciente evolucionó favorablemente.

Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.

Acquired butterfly vertebra as a sequela of eosinophilic granuloma.

Butterfly vertebras are an abnormal embryological formation of the spinal bodies that occur because of a lack of fusion of the chondrification centers of the vertebral bodies. Langerhans cell histiocytosis is an entity that frequently involves vertebral bodies resulting in flat vertebras, and recovery of the vertebral body height is a very unusual finding. We present a case report of a pediatric patient with a thoracic acquired butterfly vertebra which occurred secondary to a Langerhans cell histiocytosis involvement. It is extremely rare to find vertebra plana that regains its complete height but is even more infrequent to evidence of a butterfly vertebra deformity that is not congenital.

[Langerhans histiocytosis and panhypopituitarism in adults. Case report]. / Histiocitosis de Langerhans y panhipopituitarismo en adulto. Reporte de caso.

Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.

Paediatric Langerhans Cell Histiocytosis Disease: Long-Term Sequelae in the Hypothalamic Endocrine System.

Langerhans cell histiocytosis (LCH) is a disorder of the mononuclear phagocyte system that can affect almost any organ and system. The most common central nervous system (CNS) manifestation in LCH is the infiltration of the hypothalamic-pituitary region leading to destruction and neurodegeneration of CNS tissue. The latter causes the most frequent endocrinological manifestation, that is, central diabetes insipidus (CDI), and less often anterior pituitary hormone deficiency (APD). The reported incidence of CDI is estimated between 11.5 and 24% and is considered a risk factor for neurodegenerative disease and APD. Three risk factors for development of CDI are recognized in the majority of the studies: (1) multisystem disease, (2) the occurrence of reactivations or active disease for a prolonged period, and (3) the presence of craniofacial bone lesions. Since CDI may occur as the first manifestation of LCH, differential diagnosis of malignant diseases like germ cell tumours must be made. APD is almost always associated with CDI and can appear several years after the diagnosis of CDI. Growth hormone is the most commonly affected anterior pituitary hormone. Despite significant advances in the knowledge of LCH in recent years, little progress has been made in preventing long-term sequelae such as those affecting the hypothalamic-pituitary system.

Additive Prognostic Impact of Gastrointestinal Involvement in Severe Multisystem Langerhans Cell Histiocytosis.

OBJECTIVE: To evaluate the prognostic impact of gastrointestinal involvement on the survival of children with Langerhans cell histiocytosis (GI-LCH) registered with the international clinical trials of the Histiocyte Society. STUDY DESIGN: This was a retrospective analysis of 2414 pediatric patients registered onto the consecutive trials DAL-HX 83, DAL-HX 90, LCH-I, LCH-II, and LCH-III. RESULTS: Among the 1289 patients with single-system LCH, there was no single case confined to the GI tract; 114 of 1125 (10%) patients with multisystem LCH (MS-LCH) had GI-LCH at initial presentation. GI-LCH was significantly more common in children aged <2 years at diagnosis (13% vs 6% in those aged >2 years; P < .001) and in those with risk organ involvement (15% vs 6% in those without risk organ involvement; P < .001). The 5-year overall survival (OS) in patients without risk organ involvement was excellent irrespective of GI disease (98% vs 97% in patients with GI-LCH; P = .789). In patients with risk organ involvement, the 5-year OS was 51% in 70 patients with GI-LCH vs 72% in 394 patients without GI-LCH (P < .001). CONCLUSIONS: GI-LCH has an additive unfavorable prognostic impact in children with MS-LCH and risk organ involvement. The emerding need for more intensive or alternative treatments mandates prospective evaluation.

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.

Mechanisms of Exercise Limitation and Prevalence of Pulmonary Hypertension in Pulmonary Langerhans Cell Histiocytosis.

BACKGROUND: Pulmonary Langerhans cell histiocytosis (PLCH) determines reduced exercise capacity. The speculated mechanisms of exercise impairment in PLCH are ventilatory and cardiocirculatory limitations, including pulmonary hypertension (PH). RESEARCH QUESTION: What are the mechanisms of exercise limitation, the exercise capacity, and the prevalence of dynamic hyperinflation (DH) and PH in PLCH? STUDY DESIGN AND METHODS: In a cross-sectional study, patients with PLCH underwent an incremental treadmill cardiopulmonary exercise test with an evaluation of DH, pulmonary function tests, and transthoracic echocardiography. Those patients with lung diffusing capacity for carbon monoxide (Dlco) < 40% predicted and/or transthoracic echocardiogram with tricuspid regurgitation velocity > 2.5 m/s and/or with indirect PH signs underwent right heart catheterization. RESULTS: Thirty-five patients were included (68% women; mean age, 47 ± 11 years). Ventilatory and cardiocirculatory limitations, impairment suggestive of PH, and impaired gas exchange occurred in 88%, 67%, 29%, and 88% of patients, respectively. The limitation was multifactorial in 71%, exercise capacity was reduced in 71%, and DH occurred in 68% of patients. FEV1 and Dlco were 64 ± 22% predicted and 56 ± 21% predicted. Reduction in Dlco, an obstructive pattern, and air trapping occurred in 80%, 77%, and 37% of patients. FEV1 and Dlco were good predictors of exercise capacity. The prevalence of PH was 41%, predominantly with a precapillary pattern, and mean pulmonary artery pressure correlated best with FEV1 and tricuspid regurgitation velocity. INTERPRETATION: PH is frequent and exercise impairment is common and multifactorial in PLCH. The most prevalent mechanisms are ventilatory, cardiocirculatory, and suggestive of PH limitations. CLINICAL TRIAL REGISTRATION: ClinicalTrials.gov; No.: NCT02665546; URL: www.clinicaltrials.gov.

Oral manifestations of Langerhans cell histiocytosis: A case series.

AIM: Langerhans cell histiocytosis (LCH) is an unusual proliferative disorder of bone marrow-derived histiocytes (Langerhans cells) that can produce focal or systemic manifestations. Oral manifestations of LCH can present as single or multiple lesions and can be a challenge in clinical practice. The aim of this paper is to present the clinicopathological features of a series of nine patients with oral involvement. METHODS AND RESULTS: The patient's age ranged from 2 to 63 years being five males and four females. The most common oral site involvement was the hard-palate mucosa. Ulceration was the main clinical feature. Only two patients showed clearly jawbone involvement. In eight out of nine patients, the diagnosis of LCH was established because of the oral manifestations. CONCLUSION: The recognition of the clinical features of LCH oral manifestation is important to avoid misdiagnosis and to the establishment of the correct treatment. Thus, dentists can play a vital role in the diagnosis of LCH since oral lesions may be the earliest manifestation and sometimes the only sign of the disease. Furthermore, oral lesions may be the early signs of disease reactivation or a multisystem disease indication.

Histiocitosis de células de Langerhans con afectación de la órbita en un lactante: reporte de un caso / Langerhans cell histiocytosis with orbital involvement in an infant: Case report

La histiocitosis de células de Langerhans es una enfermedad poco frecuente, caracterizada por la proliferación clonal de células dendríticas mieloides CD1a positivas, asociada a un componente inflamatorio significativo. El compromiso óseo es común; en niños, las lesiones líticas más frecuentes son en la cúpula craneal y son raras las lesiones en la órbita. Se presenta a un lactante de 18 meses que consultó por edema periorbitario y proptosis del ojo derecho de dos meses de evolución. Al momento del examen físico, no se encontraron otras alteraciones. Se realizó una tomografía y una resonancia magnética, que mostraron una masa tumoral en el seno maxilar de crecimiento expansivo y erosión del techo de la órbita. La biopsia confirmó la proliferación CD1a positiva; recibió tratamiento con prednisona y vinblastina, con evolución favorable. Un tratamiento precoz puede evitar secuelas significativas en los pacientes cuando son sensibles al tratamiento. Es una entidad poco frecuente que requiere un alto índice de sospecha y un manejo multidisciplinario.

The Langerhans cell histiocytosis is a rare disease characterized by the clonal proliferation of CD1a + myeloid dendritic cells associated with a significant inflammatory component. The localized form of the disease is called eosinophilic granuloma. Bone involvement is common; in children, lytic lesions are most frequently found in the cranial dome being rare in the orbit. We present an 18-month-old infant who consulted due to periorbital edema and proptosis of the right eye, with two months of evolution. The computed tomography and the magnetic resonance imaging showed a maxillary sinus tumor mass of expansive growth and erosion of the roof of the orbit. The biopsy confirmed CD1a+ proliferation; it was treated with prednisone and vinblastine with favorable evolution. It is a rare entity that requires a high index of suspicion and multidisciplinary management. Early diagnosis and treatment leads to a favorable prognosis for the patient.

[Langerhans cell histiocytosis with orbital involvement in an infant: Case report]. / Histiocitosis de células de Langerhans con afectación de la órbita en un lactante: reporte de un caso.

The Langerhans cell histiocytosis is a rare disease characterized by the clonal proliferation of CD1a + myeloid dendritic cells associated with a significant inflammatory component. The localized form of the disease is called eosinophilic granuloma. Bone involvement is common; in children, lytic lesions are most frequently found in the cranial dome being rare in the orbit. We present an 18-month-old infant who consulted due to periorbital edema and proptosis of the right eye, with two months of evolution. The computed tomography and the magnetic resonance imaging showed a maxillary sinus tumor mass of expansive growth and erosion of the roof of the orbit. The biopsy confirmed CD1a+ proliferation; it was treated with prednisone and vinblastine with favorable evolution. It is a rare entity that requires a high index of suspicion and multidisciplinary management. Early diagnosis and treatment leads to a favorable prognosis for the patient.

La histiocitosis de células de Langerhans es una enfermedad poco frecuente, caracterizada por la proliferación clonal de células dendríticas mieloides CD1a positivas, asociada a un componente inflamatorio significativo. El compromiso óseo es común; en niños, las lesiones líticas más frecuentes son en la cúpula craneal y son raras las lesiones en la órbita. Se presenta a un lactante de 18 meses que consultó por edema periorbitario y proptosis del ojo derecho de dos meses de evolución. Al momento del examen físico, no se encontraron otras alteraciones. Se realizó una tomografía y una resonancia magnética, que mostraron una masa tumoral en el seno maxilar de crecimiento expansivo y erosión del techo de la órbita. La biopsia confirmó la proliferación CD1a positiva; recibió tratamiento con prednisona y vinblastina, con evolución favorable. Un tratamiento precoz puede evitar secuelas significativas en los pacientes cuando son sensibles al tratamiento. Es una entidad poco frecuente que requiere un alto índice de sospecha y un manejo multidisciplinario.