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Ocular findings in patients with histiocytosis and association with clinical and molecular features.The British Journal of Ophthalmology May 2024Ocular manifestations of histiocytosis and their genetic underpinnings are poorly characterised. This study characterises ocular sites of histiocytosis, notate genetic...
BACKGROUND/AIMS
Ocular manifestations of histiocytosis and their genetic underpinnings are poorly characterised. This study characterises ocular sites of histiocytosis, notate genetic alterations and correlates to histiocytosis clinical features including subtype and sites of disease.
METHODS
Prospective registry-based study of predominantly adult histiocytosis patients at a single-institution tertiary referral centre. 180 eyes of 90 patients (46 males, 44 females) with histiocytosis (Erdheim-Chester disease 34, Rosai-Dorfman 20, xanthogranuloma 7, mixed histiocytosis 13, Langerhans cell histiocytosis (LCH) 15, ALK-positive histiocytosis 1). Ocular findings were categorised by the structure involved. Histiocytosis subtype, sites of disease and genetic status were correlated to ocular findings.
RESULTS
Ocular disease was present in more than half the histiocytosis patient cohort and occurred with other disease sites. Ocular findings were statistically significantly different across histiocytic subtypes with LCH subtypes having the lowest proportion of ocular findings (7%) and all other subtypes having rates of ocular findings which were five times that of patients with LCH (p=0.0009). Of patients with ocular findings, 41% of patients reported ocular symptoms and were significantly more in the group with ocular disease present versus those patients without ocular involvement. The presence of ocular findings was not statistically different by V600E, or isoform mutational status.
CONCLUSIONS
Ocular disease is a common feature of histiocytosis with significant visual symptomatology and occurrence in tandem with multisystem sites. Ocular findings vary by histiocytic subtype. The mutational profile of the cohort reflects known mutations in this clinical population, with no specific driver mutation associated with ocular disease.
PubMed: 38789131
DOI: 10.1136/bjo-2023-324877 -
Australasian Journal of Ultrasound in... May 2024Sternal pseudotumour is an important but rare entity thought to be an inflammatory, non-neoplastic lesion that can mimic tumours. The purpose of this paper was to...
INTRODUCTION
Sternal pseudotumour is an important but rare entity thought to be an inflammatory, non-neoplastic lesion that can mimic tumours. The purpose of this paper was to illustrate the imaging features of this lesion to avoid unnecessary investigations.
METHODS
The clinical notes and imaging features of four patients with a diagnosis of sternal pseudotumour were reviewed over a period from February 2016 to July 2019.
RESULTS
All patients were afebrile with no history of trauma. The median age at presentation was 12.5 months. The median length of symptoms prior to presentation was 3.5 days. One patient had a mildly elevated C-reactive protein. Chest radiographs showed a pre-sternal soft-tissue mass, with or without osseous destruction of the subjacent sternum. Ultrasound showed a heterogeneous, hypoechoic pre-sternal soft-tissue mass with variable internal vascularity with extension between sternal ossification centres. CT and MRI showed an enhancing dumbbell-shaped lesion with a pre-sternal and retro-sternal soft-tissue component. The median time to complete resolution was 3 months. One patient had a biopsy that showed chronic inflammation and fibrosis.
DISCUSSION
These lesions present in young children typically with a 1- to 2-week history of a focal 2- to 4-cm swelling over the sternum. The aetiology is unknown but may be on the basis of a yet-to-be identified pathogen. Inflammatory markers and cultures are normal or mildly elevated. Important differential considerations include sternal osteomyelitis or neoplastic causes such as Ewing sarcoma, rhabdomyosarcoma, Langerhans cell histiocytosis and infantile fibrosarcoma.
CONCLUSION
Sternal pseudotumor is a rare but important entity to be aware of to avoid unnecessary invasive biopsy or further investigations. Our suggestion is that this is a 'Don't touch' lesion that requires close short-interval follow-up at a surgical outpatient clinic and with ultrasound until resolution.
PubMed: 38784694
DOI: 10.1002/ajum.12376 -
International Journal of Surgery Case... Jun 2024Introduction and importance: Langerhans cell histiocytosis is a rare disorder characterized by the proliferation of Langerhans cells in various tissues. While it...
UNLABELLED
Introduction and importance: Langerhans cell histiocytosis is a rare disorder characterized by the proliferation of Langerhans cells in various tissues. While it commonly affects bones, skin, and other organs, oral manifestations are less frequent but can be diagnostically challenging.
CASE PRESENTATION
we present a clinical case of LCH with an oral manifestation in a 14-year-old adolescent. The patient presented with progressive jaw pain for approximately two months.
CLINICAL
Intraoral examination revealed vestibular swelling at the mandibular angle, with painful vestibular palpation. However, the adjacent teeth to the lesion were not mobile, and the vitality test was positive. Radiographic examination showed an inhomogeneous hypodense osteolytic lesion at the left mandibular angle. Histopathological analysis confirmed the diagnosis of LCH with diffuse infiltration of Langerhans cells in the gingival tissue. The patient was referred to Hospital in Marseille and therapeutic abstention is chosen, clinical and radiological follow-up is established every 6 months for 5 years. At 6 weeks, a significant decrease in the lesion and an osteoperiosteal reconstruction phenomenon are observed. After one year, the lesion has spontaneously resolved. Clinical discussion: The disease activity score allows defining the severity and activity of the disease and determine the treatment. The clinical presentation of Langerhans cell histiocytosis is highly variable. The severe form of the disease occurs before the age of 2 and is characterized by multi-system involvement and neurodegenerative involvement.
CONCLUSION
The lesion resolved spontaneously after the biopsy was performed. Prompt diagnosis and multidisciplinary management are crucial for successful treatment outcomes in such cases. This case highlights the importance of recognizing oral manifestations of LCH in dental practice for early diagnosis and appropriate management.
PubMed: 38776823
DOI: 10.1016/j.ijscr.2024.109605 -
Child's Nervous System : ChNS :... May 2024Langerhans cell histiocytosis (LCH) is a rare condition arising from the monoclonal expansion of myeloid precursor cells, which results in granulomatous lesions that...
PURPOSE
Langerhans cell histiocytosis (LCH) is a rare condition arising from the monoclonal expansion of myeloid precursor cells, which results in granulomatous lesions that characteristically express CD1a/CD207. We report a case of LCH in a 3-year-old male involving the sphenoid bone with extension into the sellar/suprasellar region.
CASE REPORT
A 3-year-old male presented with progressively worsening headaches and associated night sweats, neck stiffness, and fatigue over the previous 4 weeks. Magnetic resonance imaging (MRI) revealed a 2.4-cm lytic lesion within the basisphenoid, exerting mass effect upon the pituitary gland. A biopsy was performed to determine the etiology of the lesion. Postoperatively, the patient developed an intralesional hematoma with visual complications requiring emergent surgical resection via endoscopic endonasal approach. Final pathology confirmed LCH. The patient had improvement in his vision long term.
CONCLUSIONS
LCH extending into the sella is a rare but important diagnosis to consider in pediatric patients presenting with lesions in this region. We presented a case of a pediatric patient presenting with LCH of the sphenoid bone extending into the sella, with subsequent apoplexy and vision loss. Review of the literature showed varying treatment options for these patients, including purely surgical and non-surgical treatments. Early intervention may be necessary to avoid potentially devastating neurologic sequelae.
PubMed: 38775956
DOI: 10.1007/s00381-024-06456-y -
International Journal of Dermatology May 2024
PubMed: 38773781
DOI: 10.1111/ijd.17263 -
Acta Neuropathologica Communications May 2024Neurologic Rosai-Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like...
Neurologic Rosai-Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like meningiomas, have clear boundaries, and can be completely resected. However, a few RDDs are invasive and aggressive, and no effective treatment options are available because the molecular mechanisms involved remain unknown. Here, we report a case of deadly and glucocorticoid-resistant neurologic RDD and explore its possible pathogenic mechanisms via single-cell RNA sequencing. First, we identified two distinct but evolutionarily related histiocyte subpopulations (the C1Q+ and SPP1+ histiocytes) that accumulated in the biopsy sample. The expression of genes in the KRAS signaling pathway was upregulated, indicating gain-of-function of KRAS mutations. The C1Q+ and SPP1+ histiocytes were highly differentiated and arrested in the G1 phase, excluding the idea that RDD is a lympho-histio-proliferative disorder. Second, although C1Q+ histiocytes were the primary RDD cell type, SPP1+ histiocytes highly expressed several severe inflammation-related and invasive factors, such as WNT5A, IL-6, and MMP12, suggesting that SPP1+ histiocytes plays a central role in driving the progression of this disease. Third, oligodendrocytes were found to be the prominent cell type that initiates RDD via MIF and may resist glucocorticoid treatment via the MDK and PTN signaling pathways. In summary, in this case, we report a rare presentation of neurologic RDD and provided new insight into the pathogenic mechanisms of progressive neurologic RDD. This study will also offer evidence for developing precision therapies targeting this complex disease.
Topics: Humans; Male; Histiocytes; Histiocytosis, Sinus; Proto-Oncogene Proteins p21(ras); Single-Cell Analysis; Wnt-5a Protein; Middle Aged
PubMed: 38769536
DOI: 10.1186/s40478-024-01794-z -
International Journal of Surgical... May 2024The association among Langerhans cell histiocytosis, hematolymphoid malignancies, and heavy smoking has been addressed in medical literature to identify a possible...
The association among Langerhans cell histiocytosis, hematolymphoid malignancies, and heavy smoking has been addressed in medical literature to identify a possible potential link. Such occurrence can pose diagnostic challenges, as well as important clinical implications for disease progression and treatment approaches. We present pulmonary Langerhans cell histiocytosis instance in a 35-year-old male patient, with a 34-pack-year smoking history and nodular sclerosing Hodgkin lymphoma stage IIB who developed multiple bilateral lung nodules. The patient completed 6 cycles of doxorubicin (Adriamycin), bleomycin, vinblastine, and dacarbazine chemotherapy and radiotherapy 2 years earlier. CT chest scans revealed numerous micronodules scattered randomly throughout the upper and lower left lung lobes. Subsequent wedge resection exhibited cellular proliferation with grooved nuclei, eosinophilic cytoplasm, and surrounding inflammatory components. Immunohistochemical staining showed positive staining for S100 and CD1a confirming a diagnosis of pulmonary Langerhans cell histiocytosis. The patient responded to a 6-week treatment with vinblastine and prednisolone. A subsequent CT scan of the lungs revealed complete resolution after 3 years. This report underscores the importance of identifying pulmonary Langerhans cell histiocytosis in heavy smokers with Hodgkin lymphoma presenting with multiple nodular pulmonary lesions. For patients with Hodgkin lymphoma and a possible genetic predisposition, smoking may contribute to the overt development of pulmonary Langerhans cell histiocytosis. Therefore, smoking cessation and careful follow-up examinations are required. Further research is recommended to elucidate the underlying mechanisms of this intriguing association.
PubMed: 38767149
DOI: 10.1177/10668969241253216 -
The American Journal of Case Reports May 2024BACKGROUND Langerhans cell histiocytosis (LCH) is a rare and uncontrolled proliferation of dendritic cells of myeloid origin. The incidence of LHC was estimated at 5...
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.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Sphenoid Sinus; Child
PubMed: 38764221
DOI: 10.12659/AJCR.942681 -
British Journal of Haematology May 2024Histiocytic diseases arise from MAPK mutations in myeloid progenitors. Depending on whether the progenitor follows a dendritic cell or macrophage/monocyte lineage the...
Histiocytic diseases arise from MAPK mutations in myeloid progenitors. Depending on whether the progenitor follows a dendritic cell or macrophage/monocyte lineage the final histology results in Langerhans cell histiocytosis, Rosai-Dorfman disease or Erdheim-Chester disease. Commentary on: Friedman et al. Mixed histiocytic neoplasms: A multicentre series revealing diverse somatic mutations and responses to targeted therapy. Br J Haematol 2024 (Online ahead of print). doi: 10.1111/bjh.19462.
PubMed: 38763166
DOI: 10.1111/bjh.19511 -
Dermatology Online Journal Mar 2024Juvenile xanthogranuloma is the most frequent form of non-Langerhans cell histiocytosis in children. Clinically, it presents as well defined, yellowish papules that are...
Juvenile xanthogranuloma is the most frequent form of non-Langerhans cell histiocytosis in children. Clinically, it presents as well defined, yellowish papules that are typically located on the head, neck, upper trunk, and proximal region of the extremities. Although solitary lesions are the most common presentation, few cases of multiple juvenile xanthogranuloma have been described, more frequently associated with extracutaneous involvement. We report a 2-month-old girl with 22 cutaneous papules, clinically and histologically compatible with juvenile xanthogranulomas. Screening of visceral involvement was performed with no evidence of systemic disease. Identifying high-risk factors of systemic disease in patients with multiple juvenile xanthogranuloma is essential to perform an appropriate management of this entity.
Topics: Humans; Xanthogranuloma, Juvenile; Female; Infant
PubMed: 38762861
DOI: 10.5070/D330163291