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AJP Reports Jan 2023Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a...
Juvenile xanthogranuloma (JXG) is a benign proliferative histiocytic disorder of the dendritic cell phenotype. It mostly presents in the pediatric age group as a solitary skin lesion. We describe a rare case of an infant born with disseminated JXG who presented with a blueberry muffin rash at birth. A term infant was noted to have multiple petechiae, purple nodules, and macules (1 mm-2 cm in diameter) and hepatosplenomegaly, at the time of birth. Further investigations revealed thrombocytopenia and direct hyperbilirubinemia and a magnetic resonance imaging showed scattered tiny foci of restricted diffusion in multiple areas of the brain. Patient received multiple platelet transfusions in the first few weeks with gradual improvement in thrombocytopenia. Ultimately, a biopsy of one of the lesions revealed the diagnosis of disseminated JXG with notable atypical features. Somatic mutation analysis showed a novel MYH9-FLT3 fusion, but a bone marrow biopsy was negative. The lesions faded over time, relative to patient's growth and normal neurodevelopment was noted at 18 months of age. JXG should be considered in the differentials of blueberry muffin rash in an infant. Although, JXG is mostly a self-limited condition, congenital disseminated JXG may be associated with significant morbidity and mortality.
PubMed: 36816441
DOI: 10.1055/a-2015-1080 -
Experimental Oncology Dec 2022The work describes a case of rare neonatal systemic juvenile xanthogranuloma with an initial damage of the scalp, limbs, back and abdomen, multiple damages of...
The work describes a case of rare neonatal systemic juvenile xanthogranuloma with an initial damage of the scalp, limbs, back and abdomen, multiple damages of the parenchyma of both lungs, spleen and liver with the development of a severe form of congenital cholestatic hepatitis. The diagnosis was established on the basis of histopathological and immunohistochemical examination of the skin nodules. The child on the background of therapy under the Langerhans cell histiocytosis III program achieved a partial response, which was manifested by a reduction of granulomatous formations on the skin, elimination of liver failure, but retained hepatosplenomegaly, specific lesions of the lung parenchyma, liver, and left kidney. Against the background of cytostatic therapy, the patient developed secondary pancytopenia, perianal ulcerative-necrotic dermatitis with lesions on buttocks, stomatitis, protein-energy deficiency, acute liver failure. coagulopathy, disseminated intravascular coagulation syndrome, acute renal failure, respiratory failure of III degree, cardiovascular insufficiency of III degree, pulmonary edema, cerebral edema, cerebral coma of II-III degree, enterocolitis, intestinal paresis. Despite multicomponent intensive care, the child's condition progressively deteriorated, and the patient died. The aspects of differential diagnosis of neonatal systemic juvenile xanthogranuloma are discussed.
Topics: Infant, Newborn; Child; Humans; Xanthogranuloma, Juvenile; Skin; Diagnosis, Differential; Pancytopenia; Liver
PubMed: 36811532
DOI: 10.32471/exp-oncology.2312-8852.vol-44-no-4.19193 -
The American Journal of Dermatopathology Apr 2023Langerhans cell histiocytosis (LCH) represents a myeloid clonal proliferation that involves the skin and other organs. Occasionally, cases of LCH evolve into juvenile...
BACKGROUND
Langerhans cell histiocytosis (LCH) represents a myeloid clonal proliferation that involves the skin and other organs. Occasionally, cases of LCH evolve into juvenile xanthogranuloma (JXG).
CASE PRESENTATION
A 7-month-old boy presented with an itchy, flaky rash resembling seborrheic dermatitis affecting the scalp and eyebrows. The lesions started at 2 months old. On physical examination, there were reddish/brown lesions on the trunk, denuded areas on the groin and neck, and a large lesion behind his bottom teeth. In addition, there were thick white plaques in his mouth and thick whitish material in both ears. A skin biopsy showed features of LCH. Radiologic examination demonstrated several osteolytic lesions. Chemotherapy produced marked improvement. A few months later, the patient developed lesions with clinical and histologic features of XG.
CONCLUSION
A possible association between LCH and XG is explained by lineage maturation development. Chemotherapy may play a role in modifying the production of cytokines that enhance the transformation or 'maturation' of Langerhans cells into multinucleated macrophages (Touton cells) characteristic of a more favorable proliferative inflammatory condition.
Topics: Male; Humans; Infant; Xanthogranuloma, Juvenile; Histiocytosis, Langerhans-Cell; Langerhans Cells; Skin; Macrophages
PubMed: 36801831
DOI: 10.1097/DAD.0000000000002394 -
Pediatric Blood & Cancer May 2023To perform a systematic review to investigate the available literature regarding systemic juvenile xanthogranuloma (SJXG) and report the population characteristics,... (Review)
Review
OBJECTIVE
To perform a systematic review to investigate the available literature regarding systemic juvenile xanthogranuloma (SJXG) and report the population characteristics, clinical manifestation, therapy, and outcome.
REVIEW METHODS
A search of PubMed, Embase, and Cochrane Library for all articles published between 1981 and 2022 was performed with variations and combinations of the following search terms: extracutaneous, visceral, systemic, and juvenile xanthogranuloma (JXG). Data extracted included demographics, organ involvement, treatment, outcome, and permanent sequelae.
RESULTS
A total of 103 articles encompassing 159 patients met the inclusion criteria. The median onset age was 9 months, with a male predominance (61%). The distribution of major involved organs varied by age, and younger onset age was associated with more organ involvement. The most commonly involved site was the central nervous system (CNS) (40.9%), followed by the liver (31.4%), the lung (18.9%), and the eye (18.2%). At the termination of follow-up, 93 patients (58.5%) were alive with no disease, 56 (35.2%) were alive with disease, and 10 (6.3%) were dead of disease. There was a significant difference in outcome between patients with and without spleen involvement (p = .0003), and patients with spleen involvement suffered a higher risk of death. Permanent sequelae mainly comprised CNS symptoms and ocular manifestations.
CONCLUSIONS
SJXG can involve varying numbers and combinations of extracutaneous sites. There is no standard therapy for SJXG and clinicians should choose individualized therapy modalities.
Topics: Humans; Male; Infant; Female; Xanthogranuloma, Juvenile; Eye; Central Nervous System; Disease Progression; Liver
PubMed: 36779547
DOI: 10.1002/pbc.30232 -
Virchows Archiv : An International... Jul 2023Diagnosis of histiocytosis can be difficult and one of the biggest challenges is to distinguish between reactive and neoplastic histiocytes on histology alone. Recently,...
Diagnosis of histiocytosis can be difficult and one of the biggest challenges is to distinguish between reactive and neoplastic histiocytes on histology alone. Recently, OCT2 nuclear expression was reported in Rosai-Dorfman disease (RDD). Our purpose was to expand the testing of OCT2 on a broader variety of sporadic or H syndrome-related histiocytoses. Cases of histiocytoses were retrieved from the files of Ambroise Paré Pathology Department. All slides and molecular analyses were reviewed, and staining was completed with immunohistochemistry for OCT2. A total of 156 samples from different localizations were tested. Among sporadic cases, 52 patients had RDD, and 10 patients had mixed histiocytosis combining RDD with Erdheim Chester disease (ECD, n = 8), Langerhans cell histiocytosis (LCH, n = 2) or juvenile xanthogranuloma (JXG, n = 1). All these patients were positive for OCT2 in RDD characteristic histiocytes. Twenty-three patients had ECD and all but two (91% - 21/23) were negative for OCT2. By contrast, OCT2 was positive in 11/27 (41%) LCH and 6/16 (38%) JXG. Among the 10 samples of H syndrome-associated histiocytosis, 3 had typical RDD histology, 6 had unclassified histiocytosis, and one had mixed RDD-LCH; all were positive for OCT2. On 16 samples of granulomatous lymphadenitis, OCT2 was negative in epithelioid histiocytes. Our study shows that OCT2 has a sensitivity of 100% for RDD cases and mixed histiocytoses with an RDD component. It is negative in 92% of ECD but expressed in at least 38% of LCH, JXG, and C group histiocytoses. Finally, OCT2 is positive in all H syndrome-related histiocytoses, independent of their histology.
Topics: Humans; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Erdheim-Chester Disease; Histiocytes
PubMed: 36754897
DOI: 10.1007/s00428-023-03508-7 -
Surgical Neurology International 2023Juvenile xanthogranuloma (JXG) is a proliferative disorder of non-Langerhans histiocytes. The lesions typically occur in children as solitary cutaneous lesions, but are...
BACKGROUND
Juvenile xanthogranuloma (JXG) is a proliferative disorder of non-Langerhans histiocytes. The lesions typically occur in children as solitary cutaneous lesions, but are only rarely found in adults in their late twenties to thirties. Approximately 5-10% of JXG are extracutaneous in location, with spinal JXG being only rarely encountered. Here, we described a 28-year-old male with an extradural spinal JXG resulting in severe C6- T1 spinal cord compression and a progressive quadriparesis that warranted a decompressive laminectomy/C6-T2 fusion.
CASE DESCRIPTION
A 28-year-old male presented with a progressive quadriparesis of 12 months' duration that rapidly worsened over the last 3 months. When the MRI revealed severe cord epidural C6-T1 cord compression, the patient successfully underwent a C6-T1 laminectomy for gross total tumor excision followed by a C6-T2 instrumented fusion. The histopathology confirmed the diagnosis of a spinal JXG.
CONCLUSION
Spinal JXGs in adults are only rarely encountered and should be treated with gross total tumor excision with/without fusion to achieve the best long-term outcomes.
PubMed: 36751446
DOI: 10.25259/SNI_1129_2022 -
The American Journal of Dermatopathology Mar 2023
Topics: Humans; Cyclin D1; Skin; Histiocytosis, Non-Langerhans-Cell; Soft Tissue Neoplasms; Xanthomatosis; Xanthogranuloma, Juvenile
PubMed: 36730793
DOI: 10.1097/DAD.0000000000002186 -
Archive of Clinical Cases 2022Juvenile Xanthogranuloma (XG) is a rare disorder that belongs to the heterogeneous group of histiocytic neoplasms, characterized by a clonal expansion of non-Langerhans...
Juvenile Xanthogranuloma (XG) is a rare disorder that belongs to the heterogeneous group of histiocytic neoplasms, characterized by a clonal expansion of non-Langerhans cell histiocytes that share a dermal macrophage phenotype. Although the head and neck region is the most common reported site of involvement by the Juvenile Xanthogranuloma family, laryngeal localization is extremely rare. We report a unique case of Adult Onset Xanthogranuloma with subglottic localization, presenting as a solitary laryngeal mass without other systemic or cutaneous lesions. A review of the previously described cases of laryngeal Xanthogranuloma has been performed, highlighting 7 cases of Juvenile Xanthogranuloma and only 3 cases of Adult Onset Xanthogranuloma. Despite the extreme rarity of laryngeal localization of XG, this histiocytic neoplasm should be considered as a differential diagnosis for laryngeal masses causing airway obstruction, even in the absence of other concomitant manifestations.
PubMed: 36628161
DOI: 10.22551/2022.37.0904.10221 -
American Journal of Ophthalmology Case... Mar 2023To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
PURPOSE
To report a rare case of an eyelid lesion in an adult, with histological features of juvenile xanthogranuloma (JXG).
OBSERVATIONS
Juvenile xanthogranuloma primarily affects the skin of infants and young children. It infrequently can involve the structures of the eye and orbit and rarely occurs in individuals beyond the second decade of life. We present a case of adult onset xanthogranuloma (AXG) involving the eyelid of a 29-year-old female. This lesion required management with multiple treatment modalities.
CONCLUSIONS
This is a rare example of an eyelid xanthogranuloma in an adult. As such, JXG-like lesions should be included as a differential diagnosis for lesions of the eye and orbit in adults. Surgical management may be required if there is no response to intralesional steroids.
PubMed: 36544751
DOI: 10.1016/j.ajoc.2022.101775 -
BMC Oral Health Dec 2022Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-hereditary, self-limiting disease which is usually presented in infancy or early childhood and in males over females.
CASE PRESENTATION
We report a rare case of oral Juvenile Xanthogranuloma with recurrent progressive gingival hyperplasia and concomitant presentation of osteolysis in a 21-year-old adult male with no significant medical history. Patient presented with generalized gingival hyperplasia, osteolysis of the maxilla and mandible, and a round, firm, nodular mass with clear circumference on the left shoulder. Results of gingival tissue biopsy, karyotype, bone marrow biopsy and immunohistochemistry were suggestive of a diagnosis of Juvenile Xanthogranuloma with no association to hematologic malignancy. Unfortunately, patient declined treatment and elected to be transferred back to local hospital for future evaluation.
CONCLUSIONS
Juvenile Xanthogranuloma in adults can have atypical manifestations including generalized gingival hyperplasia and osteolysis of the maxilla and mandible. It should be differentiated between Langerhans cell histiocytosis, Papillon-Lefevre Syndrome, and Pyogenic Granulomas. Despite uncommon incidence, it should be included in differential diagnoses in cases of similar clinical presentations.
Topics: Female; Humans; Adult; Male; Child, Preschool; Young Adult; Xanthogranuloma, Juvenile; Osteolysis; Gingival Hyperplasia; Histiocytosis, Langerhans-Cell; Immunohistochemistry
PubMed: 36529720
DOI: 10.1186/s12903-022-02643-y