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Archives of Pathology & Laboratory... Oct 2002Juvenile xanthogranuloma is a histiocytic inflammatory disorder capable of presenting different histologic patterns. The classic form consists of sheets of foamy...
Juvenile xanthogranuloma is a histiocytic inflammatory disorder capable of presenting different histologic patterns. The classic form consists of sheets of foamy histiocytes and numerous multinucleated Touton-type giant cells containing no to very few mitotic figures. Nonlipidized juvenile xanthogranuloma consists of a diffuse monomorphic histiocytic infiltrate and usually shows a slightly higher mitotic index. Histologic hematoxylin-eosin staining techniques were used after excision of a pink ulcerated nodule in a 2-year-old girl. Histopathologic examination showed a nonencapsulated cellular proliferation mainly occupying dermis, but extending into the subcutaneous tissue as well. Most of the cells were epithelioid histiocytes, but foamy and Touton giant cells were also evident. The most striking feature was the presence of a high number of mitotic figures, as many as 23 per 10 high-power fields. We present an unusual case of classic juvenile xanthogranuloma with areas similar to those found in the nonlipidized type and with a high mitotic index.
Topics: Child, Preschool; Female; Humans; Mitotic Index; Shoulder; Treatment Outcome; Xanthogranuloma, Juvenile
PubMed: 12296763
DOI: 10.5858/2002-126-1219-MAJX -
Taiwan Journal of Ophthalmology 2023We report an unusual presentation of a 10-month-old girl with left eye (LE) redness and watering. Evaluation showed an iris vascular lesion and lens opacity in her LE....
We report an unusual presentation of a 10-month-old girl with left eye (LE) redness and watering. Evaluation showed an iris vascular lesion and lens opacity in her LE. Child underwent USG B-scan and ultrasound biomicroscopy, by which an extensive mass lesion arising from iris and ciliary body with absent calcification was revealed. Following extensive evaluation, child underwent cataract extraction and trans-scleral total excision of the mass lesion. Histopathology proved it as juvenile xanthogranuloma (JXG) with vascular proliferation. JXG is a rare benign self-limiting dermatologic disorder affecting mainly infants and small children. Ocular lesions are the most common extracutaneous manifestation. Cataract in JXG is less frequently reported. This case is reported due to its rarity and as it presented solely as an intraocular lesion with combined diffuse infiltration into ciliary body and cataract which is unusual. Early recognition and systematic approach helped in sight saving and organ salvaging.
PubMed: 37252160
DOI: 10.4103/tjo.tjo_35_21 -
International Journal of Clinical and... 2015Juvenile xanthogranuloma (JXG) is a rare disease that is part of a spectrum of histiocytic dendritic cell disorders. Most patients present with a solitary cutaneous... (Review)
Review
Juvenile xanthogranuloma (JXG) is a rare disease that is part of a spectrum of histiocytic dendritic cell disorders. Most patients present with a solitary cutaneous lesion; however, others present with extracutaneous manifestations or even with systemic involvement. We present the first report of an 11-month-old girl in whom was diagnosed a unifocal extracutaneous JXG involving the tibia. Histological and immunohistochemical staining results are presented. A review of the literature on these unusual lesions is conducted, along with discussion of their differential diagnosis and key aspects of the patient's evaluation, management, and pathological diagnosis.
Topics: Female; Humans; Infant; Tibia; Xanthogranuloma, Juvenile
PubMed: 25755703
DOI: No ID Found -
Orphanet Journal of Rare Diseases Jun 2020Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient...
OBJECTIVE
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.
METHODS
A 7-month-old TSC boy with multiple cutaneous nodules was admitted in our hospital. We collected the clinical data of the patient. We performed biopsy of cutaneous nodules and whole-exome sequencing in both paraffin block tissue and blood samples.
RESULTS
The patient presented with a 2 month history of gradual growth multiple cutaneous nodules. He had cardiac rhabdomyoma, subependymal giant cell astrocytoma (SEGA) and hypomelanotic macules. The pathological finding of cutaneous nodules was consistent with juvenile xanthogranuloma (JXG). After 3 months of sirolimus treatment, the multiple nodules disappeared. The whole-exome sequencing identified TSC1 (c.2356C > T, p.R786*) mutation in both paraffin block tissue and blood samples. We overturned the original pathological diagnosis and finally identified JXG as a new type of skin lesions in TSC.
CONCLUSION
This is the first report on the occurrence of JXG skin lesions in TSC patient. Genetic testing is necessary in JXG. These findings expand the phenotype of skin in patients with TSC and contribute to the elucidation of JXG pathogenesis and treatment.
Topics: Genetic Testing; Humans; Hypopigmentation; Infant; Male; Sirolimus; Tuberous Sclerosis; Xanthogranuloma, Juvenile
PubMed: 32532290
DOI: 10.1186/s13023-020-01396-7 -
Asian Journal of Neurosurgery 2014Juvenile Xanthogranuloma (JXG) is a rare disorder of central nervous system. It rarely produces compressive myelopathy. On reviewing world literature, we could find only...
Juvenile Xanthogranuloma (JXG) is a rare disorder of central nervous system. It rarely produces compressive myelopathy. On reviewing world literature, we could find only nine cases of this disease involving spine and of which only four cases were in adults' i.e., 18 years and above. We are presenting a case of Spinal JXG in an 18-year-old male with thoracic compressive myelopathy presenting as short duration progressive paraparesis. Magnetic Resonance Imaging of Spine showed mass lesion in epidural space compressing cord from behind without any bony involvement at D7 to D10 vertebral segment. It was isointense on T1 and hyperintense on T2 with no contrast enhancement. D7 to D10 Laminectomy with complete excision of firm epidural mass was carried out. The histopathology with tumor markers confirmed the diagnosis of JXG. Post-operative neurological recovery in this patient was good. His power improved to grade 5/5 with decreased spasticity. Follow-up MRI at 3 months showed no residual tumor. This case appears to be the first in the series with entirely extradural component in adult thoracic spine.
PubMed: 25685229
DOI: 10.4103/1793-5482.146640 -
Preliminary evaluation of penile papule dermatoses with reflectance confocal microscopy in children.Skin Research and Technology : Official... Apr 2023Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to...
BACKGROUND
Owing to their similar appearance, lichen striatus (LS), lichen nitidus (LN), juvenile xanthogranuloma (JXG), and molluscum contagiosum (MC) on the penis often lead to misdiagnosis and missed diagnosis, especially in children. In vivo evaluation of penile dermatoses with reflectance confocal microscopy (RCM) is helpful in the diagnosis of these ambiguous lesions in children.
METHODS
We recruited 12 patients with LS, nine with LN, seven with JXG, and nine with MC and evaluated the characteristics and distinguishing features of the four kinds of papule dermatoses on the penis using RCM.
RESULTS
The four dermatoses all had unique RCM features. LS generally showed focally destroyed dermal papillary rings, with numerous mononuclear cell clusters aggregated inside the papillary rings, and highly refractive clumps were observed. For LN, the dermal papillary rings were completely destroyed and arranged in a solitary, enlarged, cavity-like structure, in which round cells, particulate matter structures, and plump cellular structures were aggregated; the adjacent skin was completely normal. In JXG, the dermal papillary rings were significantly dilated, and the superficial dermis was filled with different-sized large bright ring cells; smaller, refractive, roundish structures; and particulate matter. For MC, the normal structures completely disappeared; the lesions were arranged in a crater-shaped structure; and a mass-like substance formed by the aggregation of multiple, uniform, roundish structures was observed within the crater.
CONCLUSION
RCM allows for real-time visualization of major key diagnostic and distinguishing features of four papule dermatoses, LS, LN, JXG, and MC, on the penis in children.
Topics: Male; Humans; Child; Skin Neoplasms; Skin; Keratosis; Pruritus; Microscopy, Confocal
PubMed: 37113081
DOI: 10.1111/srt.13330 -
The Canadian Journal of Plastic Surgery... 2008The present case report describes a juvenile xanthogranuloma in a five-month-old girl. A circumscribed papule was located below the right nasal ala and above the right...
The present case report describes a juvenile xanthogranuloma in a five-month-old girl. A circumscribed papule was located below the right nasal ala and above the right vermilion border. The lesion was histologically diagnosed as a juvenile xanthogranuloma after surgical resection of the mass. Juvenile xanthogranuloma is an uncommon diagnosis, with the head, neck and trunk being the most common sites.
PubMed: 19721800
DOI: 10.1177/229255030801600309 -
International Journal of Surgery Case... Aug 2021Juvenile xanthogranuloma (JXG) rarely presents as multifocal intracranial disease in the paediatric population. Therefore, this case of extensive tumour burden,...
INTRODUCTION AND IMPORTANCE
Juvenile xanthogranuloma (JXG) rarely presents as multifocal intracranial disease in the paediatric population. Therefore, this case of extensive tumour burden, primarily within the lateral ventricles, presented a neurosurgical challenge on numerous fronts.
PRESENTATION OF CASE
This is the case of a 9-year-old male presenting with a 2-year history of visual disturbances. Radiographic imaging demonstrated extensive intracranial masses involving both lateral ventricles, the straight sinus and right cerebellum. A staged tumour resection was planned, targeting the lesions within the right lateral ventricle initially. Complete resection was achieved during surgery. Post-operative morbidity showed a decline in the patient's functional status with respect to mobility and communication, Glasgow outcome scale 3. Extensive immunohistochemical analysis ultimately revealed a diagnosis of JXG. The patient is undergoing chemotherapy, with subsequent surgical resection being dependent on overall recovery.
CLINICAL DISCUSSION
JXG is the most common form of non-Langerhans histiocytosis and typically arises as a cutaneous disorder during early childhood. It is a rare cause of extensive intracranial tumour burden, with limited publications of this kind in the literature. This is even more atypical given the absence of any of the classic cutaneous morphology seen in JXG.
CONCLUSION
JXG involving the central nervous system is a rare encounter. Therefore, a clear algorithm for the management of a case of extensive intracranial tumours resulting from JXG has not been defined. This only amplifies the difficulty in treating these cases.
PubMed: 34388899
DOI: 10.1016/j.ijscr.2021.106265 -
Actas Dermo-sifiliograficas Apr 2013Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis that typically affects children, but several cases have been reported in adults, some in connection with... (Review)
Review
Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis that typically affects children, but several cases have been reported in adults, some in connection with hematologic malignancies. We present the case of a 61-year-old woman with multiple xanthogranulomas who developed a follicular lymphoma after 4 years of follow-up. After 6 months of treatment with chemotherapy and rituximab, the cutaneous lesions disappeared and the patient achieved remission from lymphoma. We highlight this case because xanthogranuloma is a rare disorder that is difficult to diagnose in adults and also because this is the first report of an association between xanthogranuloma and follicular lymphoma. Excellent response was achieved with chemotherapy and rituximab. Finally, given the possible association between xanthogranulomas and hematologic diseases, these lesions may be a cutaneous manifestation of an occult malignancy.
Topics: Antibodies, Monoclonal, Murine-Derived; Antineoplastic Agents; Female; Humans; Lymphoma, Follicular; Middle Aged; Remission Induction; Rituximab; Xanthogranuloma, Juvenile
PubMed: 22681714
DOI: 10.1016/j.ad.2012.02.006 -
Indian Journal of Ophthalmology Nov 2013There is limited literature on the management of cataracts in juvenile xanthogranuloma (JXG). A 2-month-old girl presented to us with hyphema, secondary glaucoma OU and... (Review)
Review
There is limited literature on the management of cataracts in juvenile xanthogranuloma (JXG). A 2-month-old girl presented to us with hyphema, secondary glaucoma OU and skin nodules suggestive of JXG. She developed bilateral cataracts during her follow-up and was treated successfully with cataract surgery and aphakic rehabilitation.
Topics: Biopsy; Cataract; Cataract Extraction; Diagnosis, Differential; Female; Humans; Infant; Skin; Xanthogranuloma, Juvenile
PubMed: 24145561
DOI: 10.4103/0301-4738.119336