ABSTRACT
Non-Langerhans cell histiocytosis, including Rosai-Dorfman disease (RDD) and xanthogranuloma are rare disorders with occasional overlapping in the histopathological and immunohistochemical (IHC) findings. We report the case of a 53-year-old woman with erythematous-violaceous plaques on the cheeks and edema in the auricular pavilions. A biopsy was performed and the histopathological examination revealed a histiocytic proliferation with emperipolesis characteristic of RDD and lymphoplasmocitic infiltrate. IHC analysis showed S100 and CD68 positivity in the histiocytes but was negative for CD1a, supporting the diagnosis of RDD. Molecular analysis failed to detect BRAF-V600, NRAS or KRAS mutation. We discuss the differential diagnosis of cutaneous non-Langerhans cell histiocytosis. Pathologist must be aware of unusual presentations of RDD and further treatment options must be explored for patients with unresectable lesions and/or resistance to the classical management of RDD.
Subject(s)
Histiocytosis, Sinus , Proto-Oncogene Proteins B-raf , Female , GTP Phosphohydrolases/genetics , Histiocytes/pathology , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/genetics , Histiocytosis, Sinus/pathology , Humans , Membrane Proteins , Middle Aged , Mutation , Proto-Oncogene Proteins B-raf/genetics , Proto-Oncogene Proteins p21(ras)/geneticsABSTRACT
Las histiocitosis de células no Langerhans, como la enfermedad de Rosai-Dorfman (ERD) y el xantogranuloma, son trastornos raros que pueden mostrar solapamiento de los hallazgos histopatológicos e inmunohistoquímicos. En el presente estudio describimos un caso clínico de una paciente femenina de 53años con placas eritematoso-violáceas en las mejillas y edema en los pabellones auriculares. Se realizó una biopsia y en el examen histopatológico se observó una proliferación de histiocitos con emperipolesis característica de la ERD junto con un infiltrado linfoplasmocítico. El estudio inmunohistoquímico mostró que la mayoría de los histiocitos fueron positivos para S100 y CD68, y negativos para CD1a, lo que confirmó el diagnóstico de ERD. El análisis molecular no detectó la mutación BRAF-V600, NRAS ni KRAS. Se discute el diagnóstico diferencial entre las histiocitosis no de células de Langerhans con presentación cutánea. El patólogo debe estar al tanto de las presentaciones clínicas o patológicas inusuales de la ERD, y en los pacientes con enfermedad no resecable/escasamente resecable o resistentes al tratamiento clásico de la ERD deberían explorarse otras opciones terapéuticas basadas en los resultados de los estudios moleculares.(AU)
Non-Langerhans cell histiocytosis, including Rosai-Dorfman disease (RDD) and xanthogranuloma are rare disorders with occasional overlapping in the histopathological and immunohistochemical (IHC) findings. We report the case of a 53-year-old woman with erythematous-violaceous plaques on the cheeks and edema in the auricular pavilions. A biopsy was performed and the histopathological examination revealed a histiocytic proliferation with emperipolesis characteristic of RDD and lymphoplasmocitic infiltrate. IHC analysis showed S100 and CD68 positivity in the histiocytes but was negative for CD1a, supporting the diagnosis of RDD. Molecular analysis failed to detect BRAF-V600, NRAS or KRAS mutation. We discuss the differential diagnosis of cutaneous non-Langerhans cell histiocytosis. Pathologist must be aware of unusual presentations of RDD and further treatment options must be explored for patients with unresectable lesions and/or resistance to the classical management of RDD.(AU)
