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Journal of Medical Case Reports May 2024A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor.
BACKGROUND
A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor.
CASE REPORT
A 15-year-old Caucasian male has been presented to our department. He had radiological changes in the area of the left mandibular angle, with an area of diffuse osteolysis of 3.0 cm by 2.0 cm. Computed tomography reveals an area of diffuse osteolysis that starts from the distal root of the lower second molar and reaches the ascending process. A bone biopsy was performed, which revealed a benign proliferative process composed of histiocytic cells involving and infiltrating trabecular bone in a background of loose fibrous connective tissue devoid of any other significant inflammatory infiltrate. The size of the formation was 2.9 cm by 2.0 cm. Immunohistochemical staining for CD68 was strongly positive and negative for S-100 and CD1a. From routine blood tests, cholesterol, triglycerides, and blood sugar are within normal values, which excludes systemic metabolic disease. Subsequent to the surgical intervention, the patient underwent postoperative assessments at intervals of 14, 30, 60 days, and a year later, revealing the absence of any discernible complications during the aforementioned observation periods.
CONCLUSION
The diagnosis of primary xanthoma of the mandible is rare and can often be confused with other histiocytic lesions. A differential diagnosis should be made with nonossifying fibroma and Langerhans cell histiocytosis, as in our case. In these cases, immunohistochemistry with CD 68, S-100, and CD1a, as well as blood parameters, are crucial for the diagnosis.
Topics: Humans; Male; Adolescent; Xanthomatosis; Mandibular Diseases; Tomography, X-Ray Computed; Mandible; Biopsy
PubMed: 38711147
DOI: 10.1186/s13256-024-04534-y -
Acta Chirurgiae Plasticae 2024Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations....
Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations. Lesions typically emerge during early childhood and often resolve spontaneously, obviating the need for treatment. This paper details the case of a child diagnosed with a solitary JXG on the sole, necessitating surgical excision due to its functional impairment, specifically a delay in walking and weight bearing.
Topics: Humans; Xanthogranuloma, Juvenile; Infant, Newborn; Foot; Male; Female
PubMed: 38704235
DOI: 10.48095/ccachp202427 -
Journal of Neurological Surgery Reports Apr 2024Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ...
Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ involvement. This condition can affect individuals of all ages, but most commonly children, with a peak incidence in toddlers. Symptoms may vary depending on the affected organ or system. A 43-year-old man presented with a left temporal stabbing headache unresponsive to management with therapy and nonsteroidal anti-inflammatory drugs. Initial evaluation revealed a contrast-enhanced left temporal extra-axial lesion with bone and muscle compromise. Differential diagnoses, including multiple myeloma, were explored. Initial laboratory tests and imaging studies showed no other abnormalities, except for splenomegaly and a residual granuloma in the left lung. En bloc resection of the lesion was recommended. The patient underwent surgical intervention, which included resection of the dural lesion and all borders of an infiltrating tumor within the temporalis muscle and the affected portion of the left temporal bone. Posterior pathological examination revealed LCH. Postoperative course was uneventful. Follow-up appointments were scheduled after pathology results confirmed the diagnosis. Patient has continued follow-up for the following 3 months after the surgical procedure. Further evaluations are pending. This case report corresponds to a patient with LCH. These patients are individualized and stratified based on local or systemic involvement to determine the most appropriate type of management. This is a rare case as LCH is rare in older patients and the initial presented lesion initially mimicked a meningioma; however, its atypical behavior and associated lytic compromise led to consideration of possible differential diagnoses. LCH can present with lytic bone lesions, mimicking other conditions, including infiltrative neoplastic lesions. Early diagnosis and appropriate surgical management are essential for optimal patient outcomes. Long-term follow-up is crucial to monitor disease progression and response to treatment.
PubMed: 38690582
DOI: 10.1055/s-0044-1786360 -
Cancer Jul 2024Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder characterized by lesions with CD1a-positive/Langerin (CD207)-positive histiocytes and inflammatory... (Review)
Review
Langerhans cell histiocytosis (LCH) is a myeloid neoplastic disorder characterized by lesions with CD1a-positive/Langerin (CD207)-positive histiocytes and inflammatory infiltrate that can cause local tissue damage and systemic inflammation. Clinical presentations range from single lesions with minimal impact to life-threatening disseminated disease. Therapy for systemic LCH has been established through serial trials empirically testing different chemotherapy agents and durations of therapy. However, fewer than 50% of patients who have disseminated disease are cured with the current standard-of-care vinblastine/prednisone/(mercaptopurine), and treatment failure is associated with long-term morbidity, including the risk of LCH-associated neurodegeneration. Historically, the nature of LCH-whether a reactive condition versus a neoplastic/malignant condition-was uncertain. Over the past 15 years, seminal discoveries have broadly defined LCH pathogenesis; specifically, activating mitogen-activated protein kinase pathway mutations (most frequently, BRAFV600E) in myeloid precursors drive lesion formation. LCH therefore is a clonal neoplastic disorder, although secondary inflammatory features contribute to the disease. These paradigm-changing insights offer a promise of rational cures for patients based on individual mutations, clonal reservoirs, and extent of disease. However, the pace of clinical trial development behind lags the kinetics of translational discovery. In this review, the authors discuss the current understanding of LCH biology, clinical characteristics, therapeutic strategies, and opportunities to improve outcomes for every patient through coordinated agent prioritization and clinical trial efforts.
Topics: Humans; Histiocytosis, Langerhans-Cell
PubMed: 38687639
DOI: 10.1002/cncr.35301 -
Revista Medica de Chile May 2023Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate...
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.
Topics: Humans; Male; Hypopituitarism; Adult; Histiocytosis, Langerhans-Cell; Magnetic Resonance Imaging; Tomography, X-Ray Computed
PubMed: 38687548
DOI: 10.4067/s0034-98872023000500659 -
Head and Neck Pathology Apr 2024Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a...
Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a predilection for the head and neck region. This article illustrates a case of congenital JXG in a 5-month-old boy, characterized by a solitary, well-circumscribed nodule above the left upper lip. Histopathologically, the lesion exhibited histiocytes with eosinophilic cytoplasm and Touton giant cells. Immunohistochemistry revealed histiocytes positive for CD68 and Factor XIIIa, while negative for S-100 protein. Clinicians should become familiar with the broad clinical spectrum of cutaneous JXG, particularly its congenital presentation, in order to ensure timely and accurate management.
Topics: Humans; Xanthogranuloma, Juvenile; Male; Infant
PubMed: 38687428
DOI: 10.1007/s12105-024-01649-y -
Journal of Wound Care May 2024The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and...
OBJECTIVE
The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and treatment options for this pathology. RDD is a rare disorder of histiocytes that typically presents in patients as painless cervical lymphadenopathy. However, this case involves a patient with the central nervous system (CNS) type of RDD who later developed cutaneous lesions.
METHOD
Several differential diagnoses were examined, including hidradenitis suppurativa, pilonidal cyst and pressure ulcers. It is important to be able to exclude these diagnoses based on the presentation, patient demographic and wound location.
RESULTS
Biopsies verified the presence of RDD in the patient's suprasellar hypothalamic mass and skin lesions, confirming the patient had both CNS-RDD and cutaneous-RDD in the absence of lymphadenopathy.
CONCLUSION
Recognising the unique manifestations of rare diseases such as RDD prevents delay of proper intervention and treatment.
Topics: Adult; Female; Humans; Diagnosis, Differential; Histiocytosis, Sinus; Pressure Ulcer
PubMed: 38683815
DOI: 10.12968/jowc.2024.33.Sup5.S10 -
Pediatric Blood & Cancer Jul 2024Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like...
Here, we describe two patients with juvenile xanthogranuloma (JXG) manifesting with Langerhans cell histiocytosis (LCH)-associated neurodegenerative disease (ND)-like radiological findings. One patient showed typical radiological abnormalities at onset, which worsened with progressing central nervous system symptoms 7 years after LCH-oriented chemotherapy. Another showed spontaneous regression of clinical symptoms, with a transient radiological change 1 year after salvage chemotherapy for recurrence of JXG. These data regarding JXG-associated ND will facilitate future investigation of the disease, as well as development of therapeutic interventions.
Topics: Humans; Xanthogranuloma, Juvenile; Neurodegenerative Diseases; Histiocytosis, Langerhans-Cell; Male; Female; Infant; Child, Preschool; Child; Magnetic Resonance Imaging
PubMed: 38679849
DOI: 10.1002/pbc.31043 -
British Journal of Haematology Jun 2024
Topics: Humans; Vemurafenib; Histiocytosis, Langerhans-Cell; Male; Female; Adult; Neurodegenerative Diseases; Proto-Oncogene Proteins B-raf; Child; Middle Aged
PubMed: 38665038
DOI: 10.1111/bjh.19483 -
Journal of Clinical and Experimental... 2024
PubMed: 38660562
DOI: 10.1016/j.jceh.2024.101406