RESUMEN
CASE: A 47-year-old Japanese woman with a medical history of xanthoma disseminatum (XD) presented with posterior neck pain and abnormal gait without a history of trauma. Imaging studies revealed odontoid process thinning resulting in its fracture due to XD involvement in the atlantoaxial joint and subsequent cervical myelopathy. Posterior C1-C2 fusion surgery improved the patient's symptoms. An XD lesion around the odontoid process was confirmed intraoperatively. CONCLUSION: We report cervical myelopathy caused by XD involvement in the C1-C2 joint, showing that early fusion surgery is critical for treating pathological fractures in patients with XD.
Asunto(s)
Histiocitosis de Células no Langerhans , Apófisis Odontoides , Enfermedades de la Médula Espinal , Fracturas de la Columna Vertebral , Fusión Vertebral , Femenino , Histiocitosis de Células no Langerhans/complicaciones , Humanos , Persona de Mediana Edad , Apófisis Odontoides/lesiones , Enfermedades de la Médula Espinal/diagnóstico por imagen , Enfermedades de la Médula Espinal/etiología , Enfermedades de la Médula Espinal/cirugía , Fracturas de la Columna Vertebral/complicaciones , Fracturas de la Columna Vertebral/diagnóstico por imagen , Fusión Vertebral/efectos adversosRESUMEN
ABSTRACT: Xanthoma disseminatum (XD) is a rare non-Langerhans cell histiocytosis characterized by xanthomatous lesions in the absence of hyperlipidemia. XD usually develops in young adults, and there are rare cases among children. BRAF mutations are frequent in Langerhans cell histiocytosis and Erdheim-Chester disease but absent or only rarely detected in other histiocytosis. Herein, we described a 6-year-old Chinese girl presented with generalized skin lesions and diabetes insipidus for 5 months. There were multiple periorbital xanthelasma with histopathological features of foamy histiocytes infiltration with Touton cells. Pituitary magnetic resonance imaging showed pituitary enlargement and pituitary stalk thickening. The presence of BRAF p.V600E mutation makes this case distinctive and also offers a potential therapeutic target. According to our review of the literature, this is the first pediatric XD with diabetes insipidus and BRAF mutation.
Asunto(s)
Diabetes Insípida , Predisposición Genética a la Enfermedad , Histiocitosis de Células no Langerhans/diagnóstico , Antineoplásicos/uso terapéutico , Pueblo Asiatico , Niño , Diagnóstico Diferencial , Femenino , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/tratamiento farmacológico , Histiocitosis de Células no Langerhans/genética , Humanos , Mutación , Proteínas Proto-Oncogénicas B-raf/genéticaAsunto(s)
Histiocitosis de Células no Langerhans/complicaciones , Trombosis del Seno Sagital/complicaciones , Acetazolamida/uso terapéutico , Anticoagulantes/uso terapéutico , Histiocitosis de Células no Langerhans/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Trombosis del Seno Sagital/diagnóstico por imagen , Trombosis del Seno Sagital/tratamiento farmacológico , Warfarina/uso terapéuticoRESUMEN
ABSTRACT: We report the case of a 60-year-old woman who underwent 18F-FDG PET/CT to evaluate a metastatic breast carcinoma. Follow-up 18F-FDG PET/CT showed progressive disease with 18F-FDG increased in primary tumor, axillary lymph nodes, and pleural and bone diffuse metastases but also a concomitant uptake in multiples joints. The anatomopathological analysis from skin biopsy revealed a multicentric reticulohistiocytosis, considered paraneoplastic in the context. Second follow-up PET/CT after treatment showed a decrease of 18F-FDG uptake in previously affected joints, consistent with the symptoms evolution. 18F-FDG PET/CT could be helpful in the detection and the evaluation of such rare systemic disorder.
Asunto(s)
Neoplasias de la Mama/complicaciones , Fluorodesoxiglucosa F18 , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Femenino , Estudios de Seguimiento , Histiocitosis de Células no Langerhans/patología , Histiocitosis de Células no Langerhans/terapia , Humanos , Persona de Mediana EdadAsunto(s)
Artralgia/etiología , Articulaciones de los Dedos/patología , Histiocitosis de Células no Langerhans/diagnóstico , Piel/patología , Anciano de 80 o más Años , Artralgia/patología , Femenino , Articulaciones de los Dedos/diagnóstico por imagen , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/patología , HumanosRESUMEN
A 9-year-old boy presented with multiple hyperpigmented papules over flexors with polyuria, polydipsia and progressive loss of vision. Histopathology of papule suggested a diagnosis of non-Langerhans cell histiocytosis and systemic evaluation showed central diabetes insipidus and optic atrophy. With a diagnosis of xanthoma disseminatum with significant neurological involvement, he received cladribine therapy and showed significant improvement in both cutaneous and nervous system lesions.
Asunto(s)
Cladribina/administración & dosificación , Diabetes Insípida Neurogénica/tratamiento farmacológico , Histiocitosis de Células no Langerhans/tratamiento farmacológico , Inmunosupresores/administración & dosificación , Atrofia Óptica/tratamiento farmacológico , Niño , Cladribina/uso terapéutico , Diabetes Insípida Neurogénica/etiología , Histiocitosis de Células no Langerhans/complicaciones , Humanos , Inmunosupresores/uso terapéutico , Masculino , Atrofia Óptica/etiología , Resultado del TratamientoRESUMEN
OBJECTIVES: The prevalence of concomitant myeloid neoplasms was recently reported to be unexpectedly high among adults without non-Langerhans cell histiocytosis (non-LCH); however, the coexistence of non-LCH with RUNX1 genetic aberration has not been reported previously. METHODS: Herein, we report a 23-year-old woman with severe pancytopenia diagnosed with non-LCH following presentation with pancytopenia and marrow examination showing histiocytosis positive for CD45, CD68, CD136, and lysozyme but negative for CD1a, langerin, and S100. RESULTS: Whole-exome sequencing showed RUNX1 mutation and NF1 mutation. In the ensuing 6 months, she developed hepatosplenomegaly, and repeat bone marrow evaluation was diagnostic of acute myeloid leukemia (AML). Repeat mutational analysis showed again presence of RUNX1 mutation. She underwent induction therapy but died of septic shock. CONCLUSIONS: The demonstration of RUNX1 mutation in both non-LCH and AML bone marrow specimens at differing time points is suggestive of a biologic association of both distinct disease entities.
Asunto(s)
Médula Ósea/patología , Subunidad alfa 2 del Factor de Unión al Sitio Principal/genética , Histiocitosis de Células no Langerhans/complicaciones , Leucemia Mieloide Aguda/genética , Mutación , Adulto , Femenino , Humanos , Leucemia Mieloide Aguda/etiología , Neurofibromina 1/genéticaAsunto(s)
Diabetes Insípida Neurogénica/etiología , Histiocitoma/patología , Histiocitosis de Células no Langerhans/complicaciones , Neoplasias Cutáneas/patología , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Desamino Arginina Vasopresina/uso terapéutico , Diabetes Insípida Neurogénica/tratamiento farmacológico , Progresión de la Enfermedad , Histiocitosis de Células no Langerhans/tratamiento farmacológico , Histiocitosis de Células no Langerhans/patología , Humanos , Lactante , Masculino , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Piel/patología , Resultado del TratamientoAsunto(s)
Histiocitosis de Células no Langerhans/diagnóstico , Femenino , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/tratamiento farmacológico , Humanos , Persona de Mediana Edad , Paraproteinemias/complicaciones , Enfermedades de la Piel/complicaciones , Xantomatosis/complicacionesAsunto(s)
Histiocitosis de Células no Langerhans/diagnóstico , Enfermedades Cutáneas Papuloescamosas/diagnóstico , Artralgia/tratamiento farmacológico , Artralgia/etiología , Femenino , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/tratamiento farmacológico , Humanos , Persona de Mediana Edad , Enfermedades Cutáneas Papuloescamosas/complicaciones , Enfermedades Cutáneas Papuloescamosas/tratamiento farmacológicoRESUMEN
Cutaneous disease can present with lesions of all colors of the visible spectrum. Lesions of the skin, nail, and mucous membranes with an orange color can be due to a variety of etiologies. The conditions may appear as purely orange, yellow-orange, red-orange, tan, or brown with an orange hue. The orange color may also present as a transient phase of a disease process. As with all dermatologic pathology, a key way to distinguish orange-colored lesions is by distribution and morphology. The sclera, palate, lips, gingiva, and nails may also be involved. A literature review using PubMed with keywords, including orange, skin, mucosa, cutaneous, xanthoderma, and granuloma, was conducted to gather all dermatologic conditions that can present with an orange color. The relevant diseases were categorized by etiology and include inflammatory, infectious, neoplastic, and exogenous causes.
Asunto(s)
Trastornos de la Pigmentación/etiología , Neoplasias de las Glándulas Sebáceas/complicaciones , Color , Histiocitosis de Células no Langerhans/complicaciones , Humanos , Leishmaniasis Cutánea/complicaciones , Lupus Vulgar/complicaciones , Mastocitoma/complicaciones , Mastocitoma Cutáneo/complicaciones , Mucosa Bucal , Pitiriasis Rubra Pilaris/complicaciones , Sarcoidosis/complicacionesAsunto(s)
Histiocitosis de Células no Langerhans/diagnóstico , Atrofia Óptica/diagnóstico , Quiasma Óptico/diagnóstico por imagen , Niño , Fondo de Ojo , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/patología , Humanos , Imagen por Resonancia Magnética , Masculino , Atrofia Óptica/complicaciones , Atrofia Óptica/patología , Enfermedades del Nervio Óptico/complicaciones , Enfermedades del Nervio Óptico/diagnóstico , Enfermedades del Nervio Óptico/patología , Piel/patología , Trastornos de la Visión/etiologíaAsunto(s)
Histiocitosis de Células no Langerhans/diagnóstico , Adolescente , Diabetes Insípida/complicaciones , Diagnóstico Diferencial , Trastornos del Crecimiento/complicaciones , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/patología , Humanos , Hipotiroidismo/complicaciones , MasculinoAsunto(s)
Artralgia/etiología , Histiocitosis de Células no Langerhans/diagnóstico , Piel/patología , Artritis/etiología , Diagnóstico Diferencial , Femenino , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/patología , Humanos , Persona de Mediana EdadRESUMEN
No disponible
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/tratamiento farmacológico , Paraproteinemias/diagnóstico , Biopsia , Xantogranuloma Necrobiótico/diagnóstico , Xantogranuloma Necrobiótico/complicaciones , Paraproteinemias/complicaciones , Histiocitosis de Células no Langerhans/complicaciones , Prueba de Coombs/métodos , Diagnóstico DiferencialRESUMEN
A 68-year-old man presented with polyarthritis, proximal muscle weakness, and erythema of the face, arms, neck, and anterior chest that resembled the V-neck sign. Initially, dermatomyositis (DM) was considered because of the erythema, polyarthritis, and muscle weakness. He also had mediastinal and hilar lymphadenopathy on contrast-enhanced computed tomography. Unexpectedly, a biopsy of the forehead skin revealed numerous multinucleated giant cells. A biopsy of a solitary nodule on the dorsum of his right middle finger revealed similar multinucleated giant cells with ground-glass cytoplasm, leading to the diagnosis of multicentric reticulohistiocytosis (MRH). Although MRH is rare, it should be remembered that MRH can mimic DM.
Asunto(s)
Dermatomiositis/diagnóstico , Histiocitosis de Células no Langerhans/diagnóstico , Anciano , Artritis/etiología , Biopsia , Diagnóstico Diferencial , Eritema/etiología , Eritema/patología , Histiocitosis de Células no Langerhans/complicaciones , Histiocitosis de Células no Langerhans/patología , Humanos , Masculino , Piel/patologíaRESUMEN
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that most commonly affects adults and is driven by a high frequency of mutations in BRAF, MAP2K1, and kinases promoting MAPK signaling. Because of the relative rarity of ECD, key clinical features of the disease may not be well defined. Across a multi-institutional cohort of 189 patients with ECD and ECD overlapping with Langerhans cell histiocytosis (so-called mixed histiocytosis [MH]), we identified an unexpected and heretofore undescribed frequent occurrence of myeloid neoplasms among patients with ECD and MH. Some 10.1% (19/189) of patients with ECD have an overlapping myeloid neoplasm, most commonly occurring as a myeloproliferative neoplasm (MPN), myelodysplastic syndrome (MDS), or mixed MDS/MPN overlap syndrome (including chronic myelomonocytic leukemia). Consistent with this, molecular analysis frequently detected hallmark driver mutations of myeloid neoplasms (such as JAK2V617F and CALR mutations) coexisting with those characteristic of histiocytosis (such as BRAFV600E and MAP2K1 mutations). Histiocytosis patients diagnosed with a concomitant myeloid malignancy were significantly older at diagnosis and more commonly presented with MH than those without a myeloid malignancy. In some cases, the presence of distinct kinase mutations in the histiocytosis and myeloid neoplasm resulted in discordant and adverse responses to kinase-directed targeted therapies. These data highlight the clinical importance of evaluating adults with histiocytosis for a concomitant myeloid neoplasm.
Asunto(s)
Neoplasias de la Médula Ósea/complicaciones , Neoplasias de la Médula Ósea/epidemiología , Histiocitosis de Células no Langerhans/complicaciones , Adulto , Anciano , Enfermedad de Erdheim-Chester/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Terapia Molecular Dirigida , PrevalenciaRESUMEN
Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). This boy is one of the youngest patients ever to present with XD combined with DI.